Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

Item Type Article

Authors AlMuhaizea, Mohammed; AlMass, Rawan; AlHargan, Aljouhra; AlBader, Anoud; Medico Salsench, Eva; Howaidi, Jude; Ihinger, Jacie; Karachunski, Peter; Begtrup, Amber; Segura Castell, Monica; Bauer, Peter; Bertoli-Avella, Aida; Kaya, Ibrahim H; AlSufayan, Jumanah; AlQuait, Laila; Chedrawi, Aziza; Arold, Stefan T.; Colak, Dilek; Barakat, Tahsin Stefan; Kaya, Namik

Citation AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Medico Salsench, E., Howaidi, J., … Kaya, N. (2020). Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathologica. doi:10.1007/ s00401-020-02128-8

Eprint version Post-print

DOI 10.1007/s00401-020-02128-8

Publisher Springer Nature

Journal Acta neuropathologica

Rights Archived with thanks to Acta neuropathologica

Download date 06/10/2021 17:47:21

Link to Item http://hdl.handle.net/10754/661480 SUPPLEMENTARY MATERIALS AND METHODS

Human Subjects

The study was approved by institutional review boards (RAC# 2120022) at King Faisal Specialist Hospital and Research Centre and written informed consents were taken from the participants.

Nucleic Acid Extraction, PCR, and Sanger Sequencing

Peripheral blood samples were used for DNA extraction using Gentra’s Puregene Blood Kit, and QIAamp

Venlo, Netherlands. Nucleic acid quality and quantity were determined using NanoDrop ND-1000

(ThermoFisher Scientific, Inc., Waltham, MA, US) and 2100 Bioanalyzer (Agilent Technologies, Inc., Santa

Clara, CA, US) equipment. Primers were designed using Primer 3 and tested on human control DNA. PCRs were performed according to standard protocols and successfully amplified PCR products were directly used for Sanger sequencing using one of the PCR primers tagged with M13 universal site.

Autozygosity Mapping

DNA was also used for genome-wide SNP interrogation using GeneChip axiom arrays. SNP calls were extracted using Affymetrix’s Genotyping Console and transferred to AutoSNPa software for autozygome analysis. Runs of homozygosity (ROH) across the autozygome of the affected individuals were determined as previously described [1, 2, 8].

Whole Exome Sequencing (WES), Variant Calls and Filtering

Case 1-4:

TruSeq Exome Enrichment kit (Illumina, San Diego, CA, USA) was used to capture exomic sequences for library preparation and enrichment. The established libraries were run and sequenced on Illumina HiSeq

2000 Sequencer. WES data analysis and filtering were performed as previously published [1, 2, 4, 8].

Case 5:

Whole exome sequencing was performed at CENTOGENE AG, as previously described [12].

Case 6:

Using genomic DNA from the proband and parents, the exonic regions and flanking splice junctions of the genome were captured using the Clinical Research Exome kit (Agilent Technologies, Santa Clara, CA).

Massively parallel (NextGen) sequencing was done on an Illumina system with 100bp or greater paired-end reads. Reads were aligned to human genome build GRCh37/UCSC hg19, and analyzed for sequence variants using a custom-developed analysis tool. Additional sequencing technology and variant interpretation protocol has been previously described [9]. The general assertion criteria for variant classification are publicly available on the GeneDx ClinVar submission page.

(http://www.ncbi.nlm.nih.gov/clinvar/submitters/26957/)"

Age of Mutation Calculation

The border of ROH among the affected individuals (Supplementary Figure 1A) was determined using

AutoSNPa software (Chr19:35,473,940-39,941,310) using the UCSC Genome Browser on Human Feb. 2009

(GRCh37/hg19) Assembly. Sex-average recombination rates (RR) were taken from DECODE. The sum of the

RR in the region is 5.35 centiMorgan. Age of the mutation is therefore approximately 37 generations, corresponding to 925 years (assuming one generation is 25 years) [1].

Pathway and Gene Network Analysis of YIF1B-Co-expressed genes

It has been reported that co-expressed genes are likely to be functionally related and may provide important information on gene function and its possible regulation [10, 15]. We used publicly available datasets with over 46,000 human RNAseq to identity genes that are co-expressed with YIF1B [2]. We selected the most strongly associated genes with YIF1B with Pearson correlation (r) > 0.9 (171 genes). We then performed gene ontology enrichment and interaction network analyses using Ingenuity Pathways Analysis (IPA) 6.4

(Ingenuity Systems, Mountain View, CA).

Computational structural analysis

RaptorX [7] was used to predict protein structural disorder and secondary structure. iTasser [16] was used to build an initial model for the structured region of the protein (residues 69-314), whereas RaptorX was used to build a model for the flexible N-terminal 65 residues. SWISS-MODEL [3] was used combined both models.

Models were manually inspected, and mutations evaluated, using the PyMOL program (pymol.org).

SUPLEMENTARY FIGURE LEGENDS

Supplementary Figure 1. A. Extended large ROH (black region) shared among the index cases (F1, F2, and

F3) is framed with red lines. Blue line points location of YIF1B on chromosome 19 and red arrows show beginning and end of the run. Right panel presents selected non-affected individuals from the same families. Based on the shared ROH regions, the age of this founder mutation can be estimated to be 925 years. B.

Multiple sequence alignment of all three YIF1B variants indicating high conservation of the amino acids in the regions among various species.

Supplementary Figure 2. Protein and mRNA expressions of YIF1B, from the Protein Atlas

(http://www.proteinatlas.org) and FANTOM5 [5, 6, 11, 13, 14]. According to FANTOM5 mRNA expression levels of the gene are the highest in different brain regions in comparison to other organs except for lymph node and liver.

Supplementary Figure 3. Immunocytochemistry in three different cells lines (HPA039328: U-251 MG;

HPA039328: U-2 OS; HPA039328: A549) revealed location of YIF1B mainly in vesicles and localized to the

Golgi apparatus. Green labeled molecules are YIF1B. Data is taken from The Human Protein Atlas [11, 13, 14].

Supplementary Figure 4. Immunohistochemistry on normal brain tissue using two different primary antibodies targeting YIF1B. A. IHH results from cerebral cortex of a male brain. B. IHH results were obtained using a different antibody in the same region of another male at different age. Data is taken from The Human

Protein Atlas.[11, 13, 14]

Supplementary Figure 5. Gene interaction network analysis of YIF1B co-expressed genes. Genes in the network are co-expressed with YIF1B in over 46,000 human RNASeq data (with Pearson correlation > 0.9).

Nodes represent genes with their shape representing the functional class of the gene product, and edges indicate biological relationship between the nodes. YIF1B co-expressed genes are significantly associated with neurological disease and developmental disorders (p <0.01) (indicated in purple).

Supplementary Figure 6. A) Secondary structure prediction for wild type (left) and mutant YIF1B (right). B)

Protein structural disorder prediction for wild type (left) and mutant YIF1B (right). C) Sequences from YIF1B wild-type and both mutants are compared. Color-coding corresponds to Figure 1, with the amino acid sequence resulting from the frame-shifts shown in bold (these residues are not shown in Figure 1).

SUPPLEMENTARY FIGURE 6

A

B

C SUPLEMENTARY TABLES

Supplementary Table 1. Clinical descriptions of the patients from the families.

FAMILY II:2; Family 1 II:3; Family 1 II:2; Family 2 II:2; Family 3 II:3; family 4 II:6; Family 5 GENDER F F F F M F AGE AT PRESENTATION 6-MONTH BIRTH 8-MONTH 6-MONTH NA 6-MONTH AGE AT FIRST EVALUATION 7 YEARS 17-MONTH 4 YEARS 2 YEARS NA 23 MONTH AGE AT LAST EVALUATION 9 YEARS 4 YEARS 11 YEARS 11 YEARS NA 7 YEARS OUTCOME (ALIVE OR DEAD) ALIVE ALIVE ALIVE ALIVE NA ALIVE ETHNICITY ARAB ARAB ARAB ARAB NA SOMALI PRENATAL AND BIRTH NA PRENATAL COMPLIACTIONS (E.G. IUGR) NO NO NO possible IUGR NA NO GESTATIONAL AGE TERM TERM TERM FULL TERM NA FULL TERM BIRTH WEIGHT (SGA) NORMAL NORMAL NORMAL 2.16 KG NA UNKNOWN BIRTH LENGTH NORMAL NORMAL NORMAL 50 CM NA UNKNOWN BIRTH HEAD CIRCUMFERENCE NORMAL NORMAL NORMAL 32 CM NA UNKNOWN (MICROCEPHALY) GROWTH NA FTT (CURRENT WEIGHT) YES YES YES 10% PERCENTILE NA NO SHORT STATURE (CURRENT HEIGHT) YES YES YES 10% NA NO MICROCEPHALY YES YES YES YES NA NO DEVELOPMENT AND BEHAVIOR NA GLOBAL DEVELOPMENTAL DELAY YES YES YES - PROFOUND YES NA YES HYPOTONIA AXIAL HYPOTONIA AXIAL HYPOTONIA AXIAL HYPOTONIA AXIAL HYPOTONIA NA YES BEST GROSS MOTOR MILESTONE 1/2 ROLL ROLL OVER NOT ROLLING NOT ROLLING NA NOT ROLLING BEST FINE MOTOR MILESTONE REACH AND HOLD HOLD -IMMATURE HOLD -IMMATURE HOLD OBJECT NA REACH FOR OBJECTS OBJECT BEST LANGUAGE MILESTONE CHOOING LIKE SOUNDS BABBLES SOUNDS SOUNDS NA VOCALISATION SOCIAL DEVELOPMENT SOCIAL SMILE SOCIAL SMILE SMILE SOCIAL SMILE NA SOCIAL SMILE IRRITABILITY YES, INTERMITTENT YES, MORE WITH STRESS YES MORE ON OCCASIONAL NA YES AND TRAVEL LEVETIRACETAM

VISUAL ABNORMALITY NO NO NO NO NA CORTICAL BLINDNESS, HYPERMETROPIA, ASTIGMATISM HEARING IMPAIRMENT NO NO NO NO NA NO AURISTIC FEATURES NO NO NO NO NA ? N/A MOVEMENT DISORDER NA DYSTONIA UPPER AND LOWER LIMB DYSTONIA LIMB DYSTONIA LIMB UPPER MORE NA NO DYSTONIA LIMBS THAN LOWER

SPASTICITY LIMB LIMB SEVERE LIMB SPASTICITY MILD LIMB SPASTICITY NA SPASTIC QAUDRIPLEGIA DYSKINESIA LIMB AND FACE CHOREA WITH DYSTONIA LIMB FACE AND DISTAL NA ND LIMBS RESPONSE TO LEVODOPA/CARBIDOPA NO NO N/D NO RESPONSE NA ND

RESPONSE TO BACLOFEN PARTIAL NOT USED NOT USED NA ND RESPONSE TO TRIHEXPHENYDIL PARTIAL PARTIAL IMPROVEMENT ND PARTIAL NA ND IMPROVEMENT SEIZURES NO NO YES NO NA YES EEG ABNORMAL 1: EXCESSIVE NORMAL/AWAKE ABNORMAL III (AWAKE ND NA DIFFUSE HIGH FAST ACTIVITY AND SLEEP). AMPLITUDE SLOWING BACKGROUND SLOW WITH SUPERIMPOSED ACTIVITY. SLOW SPIKE FREQUENT AND WAVE COMPLEX, GENERALIZED AND GENERALIZED. SPIKES, MULTIFOCAL MULTIREGIONAL. PAROXYSMAL INTERMITTENT SLOW EPILEPTIFORM ACTIVITY, GENERALIZED. DISCHARGES

AGE AT LAST EEG 7 YEARS 4 YEARS 9 YEARS ND NA 5 YEARS RESPONSE TO ANTIEPILEPTIC DRUGS N/A ON CARBAMAZEPINE, CONTROLLED ON NA NA MULTIPHARMACY TREATMENT BASED ON TOPIRAMATE USING LEVETERACITAM, ABNORMAL EEG IN OTHER OXCARBAZEPINE, HOSPITAL BENZODIAZEPINS, VIMPAT, TOPIRAMATE, RUFINAMIDE, PHENOBARBITAL BRAIN MRI/MRS UNREMARKABLE UNREMARKABLE MILD ABNORMALITY MILD NA CEREBRAL AND HYPOMYELINATION CEREBELLAR ATROPHIES AND GENERAL WITH NORMAL THINNING OF THE MYELINATION CORPUS CALLOSUM AGE at MRI 7 YEARS 4 YEARS 3.5 YEARS 6.5 YEARS NA 23 MONTH, 3 YEARS (NO INTERVAL CHANGE) WHITE MATTER ABNORMALITIES NO NO NO MILD NA NO HYPOMYELINATION CEREBRAL ATROPHY NO NO NO NO NA YES AND CEREBELLAR ATROPHY (SEVERE VERMIAL ATROHY AND MODERATE HEMISPHERIC)

BASAL GANGLIA ABNORMALTIES NO NO NO NO NA NO PERI/PARAVENTRICUALR CYSTS NO NO NO NO NA NO THIN CORPUS CALLOSUM NO NO THIN BODY AND MILD THINNING NA YES SPLENIUM CEREBELLAR HYPOPLASIA NO NO NO NO NA YES ARACHNOID CYST NO NO NO NO NA NO BRAIN STEM ATROPHY NO NO NO NO NA NO MRS NORMAL NORMAL NORMAL NORMAL NA NORMAL HYDROCEPHALUS OR DILATED VENTRICLES NO NO NO NO NA NO OTHERS NO NO NO NO NA NO CARDIAC DISORDER NO SYMPTOMS NO SYMPTOMS NO SYMPTOMS NO SYMPTOMS NA NO CARDIOMYOPATHY NO NO NO NO NA NO ARRYTHMIA NO NO NO NO NA NO CONGENITAL HEART DISEASE NO NO NO NO NA NO PULMONARY HYPERTENSION NO NO NO NO NA NO OTHERS NO NO NO NO NA NO OPHTHALMOLOGY NEGATIVE EXAM NORMAL NORMAL NORMAL NA CORTICAL BLINDNESS CATARACT NEGATIVE EXAM NORMAL NOT REPORTED NOT REPORTED NA NO NYSTAGMUS NEGATIVE EXAM NORMAL NOT REPORTED NOT REPORTED NA NO STRABISMUS NEGATIVE EXAM NORMAL YES NOT REPORTED NA YES OPTIC ATROPHY NEGATIVE EXAM NORMAL NOT REPORTED NOT REPORTED NA NO RETINAL ABNORMALITY NEGATIVE EXAM NO NO NOT REPORTED NA NO HEARING IMPAIRMENT NO NO NO NOT REPORTED NA NO GI PROBLEMS NOT REPORTED NOT REPORTED NOT REPORTED NOT REPORTED NA NO FEEDING DIFFICULTIES YES YES YES YES- ON PEG TUBE NA YES, FEEDING GASTROINTESTINAL TUBE FEEDING CHOCKING YES YES YES YES NA YES CONSTIPATION MILD NO NO NOT REPORTED NA NO GENITOURINARY NOT REPORTED NOT REPORTED NOT REPORTED NOT REPORTED NA NO HYPOSPADIAS NA NA NA NA NA NA UNDESCENDED TESTIS NA NA NA NA NA NA RENAL DYSFUNCTION NO NO NO NO NA NO OTHERS NO NO NO NO NA NO ROUTINE BLOOD TESTING NA

CBC NORMAL NORMAL NORMAL NORMAL NA NORMAL RENAL PROFILE NORMAL NORMAL NORMAL NORMAL NA NORMAL HEPATIC PROFILE NORMAL NORMAL NORMAL NORMAL NA NORMAL METABOLIC NA SERUM LACTIC ACID NORMAL NORMAL NORMAL NORMAL NA NORMAL URINE GC/MS NORMAL N/D NORMAL NORMAL NA NORMAL ACYLCARNITINE PROFILE NORMAL N/D NORMAL NORMAL NA NORMAL SEUM AMMONIA NORMAL N/D NORMAL NORMAL NA NORMAL CSF NEUROTRANSMITTERS NORMAL N/D N/D NORMAL NA NORMAL CREATINE DISORDERS PANEL- URINE NORMAL N/D NORMAL NORMAL NA NORMAL TRANSFERRIN ISOELECTRIC FOCUSSING NORMAL N/D NORMAL NORMAL NA NORMAL CERULOPLASMIN N/D NORMAL NORMAL NORMAL NA NORMAL COPPER N/D NORMAL NORMAL NORMAL NA NORMAL LIPID PROFILE N/D NORMAL NORMAL ND NA NORMAL VLCFA ND ND NORMAL NORMAL NA NORMAL DYSMORPHIC FEATURES NO DYSMORPHISM NO OBVIOUS NO DYSMORPHISM NO DYSMORPHISM NA NO DYSMORPHISM DYSMORPHISM PTOSIS NO NO NO NO NA NO OTHERS NO NO NO NO NA NO OTHER MANIFESTATIONS FEET CONTRACTURE HIP DISLOCATION AT NA HIP DYSPLASIA S/P 8YR CORRECTIVE SURGERY SCOLIOSIS YES NO NO MILD AT AGE 10YR NA GENETIC TESTING NA NGS NEUROTRANSMITTER DIS (MNG LAB NEGATIVE ND ND ND NA ND 127 GENES) MECP2 GENE N/D N/D NEGATIVE NEGATIVE NA ND SNP CYTOGENOMIC ARRAY NORMAL ND NORMAL ND NA MOSAIC COPY NUMBER GAIN IN 15Q24.1- 15Q26.3 (29.0 MB) CLINICAL SIGNIFICANCE IS UNCLEAR. MICROCEPHALY NGS PANEL ND ND ND NEGATIVE NA ND ENDOCRINE TESTING NA FT4/TSH NORMAL N/D ND NORMAL NA ND PTH NORMAL N/D ND NOT REPORTED NA ND 25 OH VIT D NORMAL N/D ND NOT REPORTED NA ND PERIPHERAL BLOOD FILM MORPHOLOGY UNREMARKABLE N/D MILD LEUKOPENIA NA ND ANISOPOIKILOCYTOSIS PREDOMINANTLY WITH OCCASIONAL MODERATE POLYCHROMASIA. THERE NEUTROPENIA AND IS RARE ACANTHOCYTES LYMPHOCYTOPENIA SEEN. OVALOCYTES, WITH SOME REACTIVE TARGET CELLS AND FORMS. NORMOCYTIC FRAGMENTS ARE NORMOCHROMIC INFREQUENT. FEW RBCS. ADEQUATE REACTIVE LOOKING PLATELETS WITH SOME LYMPHOCYTES ARE SEEN. LARGE FORMS PLATELETS MORPHOLOGY IS UNREMARKABLE. CSF ROUTINE ANALYSIS NORMAL N/D ND NORMAL NA NORMAL CK NORMAL ND NORMAL NORMAL NA NORMAL URIC ACID ND ND NORMAL ND NA NORMAL TRACHEOSTOMY NO NO NO NO NA YES VENT SUPPORT NO NO NO NO NA YES MUSCLE BIOPSY NO NO NO NO NA FIBER 2 B ATROPHY SERUM AND CSF AMINO ACIDS NO NO NO NO NA NORMAL NCS/EMG NO NO NO NO NA NORMAL GALACTOCEREBROSIDASE NO NO NO NO NA NORMAL OLIGOSACCHARIDES URINE NO NO NO NO NA NORMAL ECHO/HOLTER NO NO NO NO NA NORMAL

FAMILY HISTORY NA 1 SIBLING DIED AT 2 MO OF AGE - CAUSE UNKNOWN; 2 ND SIBLING DIED AT THE AGE OF 6 MONTHS FROM PNEUMONIA BUT HAD HYPOTONIA. Zygosity Homozygous Homozygous Homozygous Homozygous Homozygous Homozygous Mutation (NM_001039672.2) c.186dupT:p.Ala64fs c.186dupT:p.Ala64fs c.186dupT:p.Ala64fs c.186dupT:p.Ala64fs c.360_361ins c.598G>T:p.Glu200* ACAT:p.Gly1 21fs Abbreviations: NA:Not available

Supplementary Table 2. List of YIF1B co-expressed genes with Pearson correlation (r) > 0.9 in over 46,000 human RNAseq.

Ensembl Gene ID Gene Mutual Pearson Biotype Annotation Chromosome Gene Gene end (bp) Symbol Rank Correlation name start (bp) value ENSG00000167645 YIF1B 1 1 protein_coding Yip1 interacting factor homolog B, membrane trafficking 19 38303558 38317273 protein [Source:HGNC Symbol;Acc:HGNC:30511] ENSG00000099817 POLR2E 15.6205 0.937437 protein_coding RNA polymerase II subunit E [Source:HGNC 19 1086574 1095380 Symbol;Acc:HGNC:9192] ENSG00000169727 GPS1 24.91987 0.930217 protein_coding G protein pathway suppressor 1 [Source:HGNC 17 82050691 82057470 Symbol;Acc:HGNC:4549] ENSG00000267059 AC005943.1 27.12932 0.928445 protein_coding novel transcript, readthrough between UQCR11 and 19 1578339 1605445 MBD3 ENSG00000174903 RAB1B 36.81032 0.928323 protein_coding RAB1B, member RAS oncogene family [Source:HGNC 11 66268590 66277492 Symbol;Acc:HGNC:18370] ENSG00000105669 COPE 55.74944 0.927297 protein_coding coatomer protein complex subunit epsilon 19 18899514 18919387 [Source:HGNC Symbol;Acc:HGNC:2234] ENSG00000126254 RBM42 59.10161 0.926428 protein_coding RNA binding motif protein 42 [Source:HGNC 19 35629030 35637686 Symbol;Acc:HGNC:28117] ENSG00000042753 AP2S1 13.2665 0.926191 protein_coding adaptor related protein complex 2 subunit sigma 1 19 46838136 46850992 [Source:HGNC Symbol;Acc:HGNC:565] ENSG00000254452 AP001107.2 40.13726 0.926106 lncRNA novel transcript 11 66276779 66277492 ENSG00000104805 NUCB1 20.73644 0.92452 protein_coding nucleobindin 1 [Source:HGNC Symbol;Acc:HGNC:8043] 19 48900312 48923372 ENSG00000161999 JMJD8 79.04429 0.923397 protein_coding jumonji domain containing 8 [Source:HGNC 16 681670 684528 Symbol;Acc:HGNC:14148] ENSG00000159069 FBXW5 53.66563 0.923102 protein_coding F-box and WD repeat domain containing 5 9 1.37E+08 1.37E+08 [Source:HGNC Symbol;Acc:HGNC:13613] ENSG00000099795 NDUFB7 32.44996 0.922956 protein_coding NADH:ubiquinone oxidoreductase subunit B7 19 14566078 14572066 [Source:HGNC Symbol;Acc:HGNC:7702] ENSG00000007080 CCDC124 45.51923 0.922763 protein_coding coiled-coil domain containing 124 [Source:HGNC 19 17933015 17943991 Symbol;Acc:HGNC:25171] ENSG00000228024 CYP1D1P 77.16865 0.922372 unprocessed_pseudogene cytochrome P450 family 1 subfamily D member 1, 9 73042745 73056528 pseudogene [Source:HGNC Symbol;Acc:HGNC:39968] ENSG00000169627 BOLA2B 53.21654 0.921898 protein_coding bolA family member 2B [Source:HGNC 16 30192932 30194306 Symbol;Acc:HGNC:32479] ENSG00000267740 AC024592.3 74.33034 0.921785 protein_coding novel protein 19 5866171 5903787 ENSG00000125656 CLPP 89.6995 0.921636 protein_coding caseinolytic mitochondrial matrix peptidase proteolytic 19 6361531 6370242 subunit [Source:HGNC Symbol;Acc:HGNC:2084] ENSG00000007520 TSR3 79.30322 0.921609 protein_coding TSR3 ribosome maturation factor [Source:HGNC 16 1349240 1351878 Symbol;Acc:HGNC:14175] ENSG00000226465 AL390198.1 94.23375 0.921222 lncRNA novel transcript 20 25697003 25752776 ENSG00000228300 FAM174C 76.26926 0.920949 protein_coding family with sequence similarity 174 member C 19 1275530 1279244 [Source:HGNC Symbol;Acc:HGNC:26073] ENSG00000174886 NDUFA11 85.8487 0.920788 protein_coding NADH:ubiquinone oxidoreductase subunit A11 19 5891276 5904006 [Source:HGNC Symbol;Acc:HGNC:20371] ENSG00000011009 LYPLA2 94.71008 0.920217 protein_coding lysophospholipase 2 [Source:HGNC 1 23791145 23795539 Symbol;Acc:HGNC:6738] ENSG00000175756 AURKAIP1 51.14685 0.920019 protein_coding aurora kinase A interacting protein 1 [Source:HGNC 1 1373730 1375495 Symbol;Acc:HGNC:24114] ENSG00000171148 TADA3 26.92582 0.919883 protein_coding transcriptional adaptor 3 [Source:HGNC 3 9779860 9793011 Symbol;Acc:HGNC:19422] ENSG00000106244 PDAP1 129.7998 0.919585 protein_coding PDGFA associated protein 1 [Source:HGNC 7 99392048 99408597 Symbol;Acc:HGNC:14634] ENSG00000166337 TAF10 52.99057 0.919423 protein_coding TATA-box binding protein associated factor 10 11 6606294 6612539 [Source:HGNC Symbol;Acc:HGNC:11543] ENSG00000116685 KIAA2013 76.31514 0.919293 protein_coding KIAA2013 [Source:HGNC Symbol;Acc:HGNC:28513] 1 11919591 11926428 ENSG00000108515 ENO3 73.04793 0.919206 protein_coding enolase 3 [Source:HGNC Symbol;Acc:HGNC:3354] 17 4948092 4957131 ENSG00000147123 NDUFB11 112.9159 0.918974 protein_coding NADH:ubiquinone oxidoreductase subunit B11 X 47142216 47145504 [Source:HGNC Symbol;Acc:HGNC:20372] ENSG00000086504 MRPL28 67.04476 0.918516 protein_coding mitochondrial ribosomal protein L28 [Source:HGNC 16 366969 371289 Symbol;Acc:HGNC:14484] ENSG00000235191 NUCB1-AS1 46.64762 0.918512 lncRNA NUCB1 antisense RNA 1 [Source:HGNC 19 48910930 48918891 Symbol;Acc:HGNC:40419] ENSG00000227698 AP001619.1 81.64558 0.91776 lncRNA novel transcript 21 41874756 41877613 ENSG00000245156 AP001107.1 145.1895 0.91774 lncRNA novel transcript 11 66269832 66278525 ENSG00000071655 MBD3 122.6784 0.917662 protein_coding methyl-CpG binding domain protein 3 [Source:HGNC 19 1573596 1592865 Symbol;Acc:HGNC:6918] ENSG00000268983 AC005253.2 191.8124 0.917419 lncRNA novel transcript, antisense to KXD1 19 18568506 18569375 ENSG00000074071 MRPS34 81.38182 0.917219 protein_coding mitochondrial ribosomal protein S34 [Source:HGNC 16 1771890 1773155 Symbol;Acc:HGNC:16618] ENSG00000129925 TMEM8A 71.8888 0.91636 protein_coding transmembrane protein 8A [Source:HGNC 16 370788 387113 Symbol;Acc:HGNC:17205] ENSG00000107223 EDF1 192.0781 0.915608 protein_coding endothelial differentiation related factor 1 9 1.37E+08 1.37E+08 [Source:HGNC Symbol;Acc:HGNC:3164] ENSG00000115241 PPM1G 153.1013 0.915408 protein_coding protein phosphatase, Mg2+/Mn2+ dependent 1G 2 27381195 27409591 [Source:HGNC Symbol;Acc:HGNC:9278] ENSG00000227109 CRIP1P3 172.7657 0.915214 processed_pseudogene cysteine rich protein 1 pseudogene 3 [Source:HGNC 1 2.02E+08 2.02E+08 Symbol;Acc:HGNC:44518] ENSG00000167118 URM1 251.8333 0.915131 protein_coding ubiquitin related modifier 1 [Source:HGNC 9 1.28E+08 1.28E+08 Symbol;Acc:HGNC:28378] ENSG00000124172 ATP5F1E 89.43154 0.915073 protein_coding ATP synthase F1 subunit epsilon [Source:HGNC 20 59025475 59032345 Symbol;Acc:HGNC:838] ENSG00000162144 CYB561A3 121.7703 0.914812 protein_coding cytochrome b561 family member A3 [Source:HGNC 11 61348745 61362299 Symbol;Acc:HGNC:23014] ENSG00000103266 STUB1 160.4369 0.914676 protein_coding STIP1 homology and U-box containing protein 1 16 680224 682870 [Source:HGNC Symbol;Acc:HGNC:11427] ENSG00000110108 TMEM109 59.89992 0.914563 protein_coding transmembrane protein 109 [Source:HGNC 11 60914158 60923443 Symbol;Acc:HGNC:28771] ENSG00000166595 CIAO2B 103.5181 0.914392 protein_coding cytosolic iron-sulfur assembly component 2B 16 66932065 66934423 [Source:HGNC Symbol;Acc:HGNC:24261] ENSG00000149476 TKFC 195.2229 0.914342 protein_coding triokinase and FMN cyclase [Source:HGNC 11 61333210 61353295 Symbol;Acc:HGNC:24552] ENSG00000163902 RPN1 93.91486 0.914268 protein_coding ribophorin I [Source:HGNC Symbol;Acc:HGNC:10381] 3 1.29E+08 1.29E+08 ENSG00000161618 ALDH16A1 55.22681 0.914179 protein_coding aldehyde dehydrogenase 16 family member A1 19 49453225 49471050 [Source:HGNC Symbol;Acc:HGNC:28114] ENSG00000144591 GMPPA 112.4633 0.913843 protein_coding GDP-mannose pyrophosphorylase A [Source:HGNC 2 2.19E+08 2.2E+08 Symbol;Acc:HGNC:22923] ENSG00000140990 NDUFB10 144.2221 0.913807 protein_coding NADH:ubiquinone oxidoreductase subunit B10 16 1959538 1961975 [Source:HGNC Symbol;Acc:HGNC:7696] ENSG00000256100 AP000721.1 76.00658 0.91363 protein_coding novel transcript 11 63974620 63988346 ENSG00000279009 AC005943.2 111.6871 0.913492 TEC TEC 19 1576939 1577086 ENSG00000064490 RFXANK 221.3707 0.913441 protein_coding regulatory factor X associated ankyrin containing protein 19 19192229 19201869 [Source:HGNC Symbol;Acc:HGNC:9987] ENSG00000143543 JTB 287.0122 0.913312 protein_coding jumping translocation breakpoint [Source:HGNC 1 1.54E+08 1.54E+08 Symbol;Acc:HGNC:6201] ENSG00000116898 MRPS15 146.2019 0.913249 protein_coding mitochondrial ribosomal protein S15 [Source:HGNC 1 36455718 36464384 Symbol;Acc:HGNC:14504] ENSG00000072506 HSD17B10 100.4589 0.913069 protein_coding hydroxysteroid 17-beta dehydrogenase 10 X 53431258 53434373 [Source:HGNC Symbol;Acc:HGNC:4800] ENSG00000104979 C19orf53 153.2384 0.912964 protein_coding chromosome 19 open reading frame 53 [Source:HGNC 19 13774456 13778773 Symbol;Acc:HGNC:24991] ENSG00000068120 COASY 196.8756 0.91268 protein_coding Coenzyme A synthase [Source:HGNC 17 42561467 42566277 Symbol;Acc:HGNC:29932] ENSG00000108518 PFN1 137.5136 0.912439 protein_coding profilin 1 [Source:HGNC Symbol;Acc:HGNC:8881] 17 4945652 4949061 ENSG00000159352 PSMD4 184.9973 0.912423 protein_coding proteasome 26S subunit, non-ATPase 4 [Source:HGNC 1 1.51E+08 1.51E+08 Symbol;Acc:HGNC:9561] ENSG00000226967 HAUS4P1 186.4832 0.912298 processed_pseudogene HAUS augmin like complex subunit 4 pseudogene 1 1 1.7E+08 1.7E+08 [Source:HGNC Symbol;Acc:HGNC:43763] ENSG00000227545 AC006455.2 157.9873 0.912226 processed_pseudogene solute carrier family 25 (mitochondrial carrier; citrate 7 63349154 63350059 transporter), member 1 (SLC25A1) pseudogene ENSG00000126768 TIMM17B 114.0175 0.912157 protein_coding translocase of inner mitochondrial membrane 17B X 48893447 48898143 [Source:HGNC Symbol;Acc:HGNC:17310] ENSG00000101182 PSMA7 236.1567 0.912014 protein_coding proteasome subunit alpha 7 [Source:HGNC 20 62136733 62143440 Symbol;Acc:HGNC:9536] ENSG00000224839 RPL12P17 41.73727 0.911917 processed_pseudogene ribosomal protein L12 pseudogene 17 [Source:HGNC 2 2.08E+08 2.08E+08 Symbol;Acc:HGNC:36263] ENSG00000105700 KXD1 345.3578 0.911664 protein_coding KxDL motif containing 1 [Source:HGNC 19 18557762 18569387 Symbol;Acc:HGNC:28420] ENSG00000227000 HSPD1P14 44.73254 0.911608 processed_pseudogene heat shock protein family D (Hsp60) member 1 1 33838523 33840140 pseudogene 14 [Source:HGNC Symbol;Acc:HGNC:35143] ENSG00000227908 AC016596.1 226.8259 0.911386 lncRNA novel transcript, antisense to IL6ST 5 55995167 56003649 ENSG00000233328 PFN1P1 128.3433 0.911199 processed_pseudogene profilin 1 pseudogene 1 [Source:HGNC 1 1.72E+08 1.72E+08 Symbol;Acc:HGNC:42989] ENSG00000226440 AL365214.2 152.2629 0.910921 lncRNA novel transcript 6 1.12E+08 1.12E+08 ENSG00000258674 AC011448.1 168.2974 0.910891 protein_coding novel protein 19 19516227 19536076 ENSG00000104872 PIH1D1 189.6418 0.910882 protein_coding PIH1 domain containing 1 [Source:HGNC 19 49446298 49453497 Symbol;Acc:HGNC:26075] ENSG00000228057 SEC63P1 256.9047 0.910192 processed_pseudogene SEC63 homolog, protein translocation regulator 1 97545701 97546958 pseudogene 1 [Source:HGNC Symbol;Acc:HGNC:41953] ENSG00000102030 NAA10 257.4335 0.909945 protein_coding N(alpha)-acetyltransferase 10, NatA catalytic subunit X 1.54E+08 1.54E+08 [Source:HGNC Symbol;Acc:HGNC:18704] ENSG00000227515 C1DP4 104.1969 0.909878 processed_pseudogene C1D nuclear receptor corepressor pseudogene 4 10 80040621 80041044 [Source:HGNC Symbol;Acc:HGNC:38028] ENSG00000116521 SCAMP3 174.6368 0.90982 protein_coding secretory carrier membrane protein 3 [Source:HGNC 1 1.55E+08 1.55E+08 Symbol;Acc:HGNC:10565] ENSG00000172757 CFL1 246.4772 0.909766 protein_coding cofilin 1 [Source:HGNC Symbol;Acc:HGNC:1874] 11 65823022 65862026 ENSG00000273003 ARL2- 139.4274 0.909722 protein_coding ARL2-SNX15 readthrough (NMD candidate) 11 65014182 65040570 SNX15 [Source:HGNC Symbol;Acc:HGNC:49197] ENSG00000119777 TMEM214 152.2038 0.909501 protein_coding transmembrane protein 214 [Source:HGNC 2 27032910 27041694 Symbol;Acc:HGNC:25983] ENSG00000131653 TRAF7 207.6824 0.90941 protein_coding TNF receptor associated factor 7 [Source:HGNC 16 2155698 2178129 Symbol;Acc:HGNC:20456] ENSG00000105393 BABAM1 232.45 0.909404 protein_coding BRISC and BRCA1 A complex member 1 [Source:HGNC 19 17267376 17281249 Symbol;Acc:HGNC:25008] ENSG00000167674 HDGFL2 254.3226 0.909284 protein_coding HDGF like 2 [Source:HGNC Symbol;Acc:HGNC:14680] 19 4472297 4502208 ENSG00000226450 CYP2D8P 59.03389 0.908852 unprocessed_pseudogene ccytochrome P450 family 2 subfamily D member 8, 22 42149886 42155001 pseudogene [Source:HGNC Symbol;Acc:HGNC:2628] ENSG00000106153 CHCHD2 274.1605 0.908717 protein_coding coiled-coil-helix-coiled-coil-helix domain containing 2 7 56101573 56106476 [Source:HGNC Symbol;Acc:HGNC:21645] ENSG00000172531 PPP1CA 273.0549 0.908665 protein_coding protein phosphatase 1 catalytic subunit alpha 11 67398183 67421183 [Source:HGNC Symbol;Acc:HGNC:9281] ENSG00000111481 COPZ1 326.5823 0.908398 protein_coding coatomer protein complex subunit zeta 1 [Source:HGNC 12 54301202 54351846 Symbol;Acc:HGNC:2243] ENSG00000002822 MAD1L1 108.798 0.908324 protein_coding mitotic arrest deficient 1 like 1 [Source:HGNC 7 1815793 2233243 Symbol;Acc:HGNC:6762] ENSG00000161203 AP2M1 231.7973 0.908083 protein_coding adaptor related protein complex 2 subunit mu 1 3 1.84E+08 1.84E+08 [Source:HGNC Symbol;Acc:HGNC:564] ENSG00000140264 SERF2 241.8946 0.908049 protein_coding small EDRK-rich factor 2 [Source:HGNC 15 43777087 43802589 Symbol;Acc:HGNC:10757] ENSG00000100243 CYB5R3 142.2674 0.907948 protein_coding cytochrome b5 reductase 3 [Source:HGNC 22 42617840 42649392 Symbol;Acc:HGNC:2873] ENSG00000115234 SNX17 266.9045 0.907398 protein_coding sorting nexin 17 [Source:HGNC 2 27370496 27377535 Symbol;Acc:HGNC:14979] ENSG00000254692 AL136295.1 298.5163 0.907354 protein_coding novel protein 14 24189157 24213473 ENSG00000134882 UBAC2 220.5448 0.907292 protein_coding UBA domain containing 2 [Source:HGNC 13 99200774 99386504 Symbol;Acc:HGNC:20486] ENSG00000160446 ZDHHC12 127.7498 0.907143 protein_coding zinc finger DHHC-type containing 12 [Source:HGNC 9 1.29E+08 1.29E+08 Symbol;Acc:HGNC:19159] ENSG00000140365 COMMD4 119.4111 0.906897 protein_coding COMM domain containing 4 [Source:HGNC 15 75336020 75343224 Symbol;Acc:HGNC:26027] ENSG00000269307 AC010463.1 221.138 0.906862 protein_coding novel transcript 19 17267418 17282966 ENSG00000167863 ATP5PD 155.422 0.90685 protein_coding ATP synthase peripheral stalk subunit d [Source:HGNC 17 75038863 75046985 Symbol;Acc:HGNC:845] ENSG00000114867 EIF4G1 316.0696 0.906696 protein_coding eukaryotic translation initiation factor 4 gamma 1 3 1.84E+08 1.84E+08 [Source:HGNC Symbol;Acc:HGNC:3296] ENSG00000104886 PLEKHJ1 243.2817 0.90664 protein_coding pleckstrin homology domain containing J1 19 2230084 2237704 [Source:HGNC Symbol;Acc:HGNC:18211] ENSG00000144785 AC073896.1 390.8913 0.906178 protein_coding novel protein 12 56285916 56316059 ENSG00000169718 DUS1L 433.7983 0.906132 protein_coding dihydrouridine synthase 1 like [Source:HGNC 17 82057506 82065887 Symbol;Acc:HGNC:30086] ENSG00000269335 IKBKG 308.6487 0.906106 protein_coding inhibitor of nuclear factor kappa B kinase regulatory X 1.55E+08 1.55E+08 subunit gamma [Source:HGNC Symbol;Acc:HGNC:5961] ENSG00000148834 GSTO1 130.4224 0.905968 protein_coding glutathione S-transferase omega 1 [Source:HGNC 10 1.04E+08 1.04E+08 Symbol;Acc:HGNC:13312] ENSG00000255949 RPS6KB2- 237.6931 0.905856 lncRNA RPS6KB2 antisense RNA 1 [Source:HGNC 11 67431367 67435399 AS1 Symbol;Acc:HGNC:53744] ENSG00000126453 BCL2L12 335.8244 0.905813 protein_coding BCL2 like 12 [Source:HGNC Symbol;Acc:HGNC:13787] 19 49665142 49673916 ENSG00000254999 BRK1 357.4409 0.90577 protein_coding BRICK1 subunit of SCAR/WAVE actin nucleating complex 3 10115675 10127190 [Source:HGNC Symbol;Acc:HGNC:23057] ENSG00000132394 EEFSEC 146.1643 0.905747 protein_coding eukaryotic elongation factor, selenocysteine-tRNA 3 1.28E+08 1.28E+08 specific [Source:HGNC Symbol;Acc:HGNC:24614] ENSG00000226718 SNRPGP8 409.1699 0.905676 processed_pseudogene small nuclear ribonucleoprotein polypeptide G 2 2.28E+08 2.28E+08 pseudogene 8 [Source:HGNC Symbol;Acc:HGNC:39327] ENSG00000095906 NUBP2 204.2939 0.905664 protein_coding nucleotide binding protein 2 [Source:HGNC 16 1782932 1789186 Symbol;Acc:HGNC:8042] ENSG00000141959 PFKL 334.9985 0.905433 protein_coding phosphofructokinase, liver type [Source:HGNC 21 44300051 44327376 Symbol;Acc:HGNC:8876] ENSG00000131652 THOC6 279.2311 0.905368 protein_coding THO complex 6 [Source:HGNC Symbol;Acc:HGNC:28369] 16 3024027 3027755 ENSG00000143612 C1orf43 296.4692 0.905112 protein_coding chromosome 1 open reading frame 43 [Source:HGNC 1 1.54E+08 1.54E+08 Symbol;Acc:HGNC:29876] ENSG00000170043 TRAPPC1 292.5064 0.904856 protein_coding trafficking protein particle complex 1 [Source:HGNC 17 7930345 7932123 Symbol;Acc:HGNC:19894] ENSG00000275882 IKBKGP1 255.3272 0.904737 unprocessed_pseudogene inhibitor of nuclear factor kappa B kinase subunit X 1.55E+08 1.55E+08 gamma pseudogene 1 [Source:HGNC Symbol;Acc:HGNC:24455] ENSG00000108344 PSMD3 417.9486 0.904702 protein_coding proteasome 26S subunit, non-ATPase 3 [Source:HGNC 17 39980807 39997959 Symbol;Acc:HGNC:9560] ENSG00000226115 AP001476.2 129.9 0.904676 lncRNA novel transcript 21 46056516 46057567 ENSG00000004142 POLDIP2 357 0.904655 protein_coding DNA polymerase delta interacting protein 2 17 28346633 28357527 [Source:HGNC Symbol;Acc:HGNC:23781] ENSG00000099341 PSMD8 298.7976 0.904524 protein_coding proteasome 26S subunit, non-ATPase 8 [Source:HGNC 19 38374536 38383824 Symbol;Acc:HGNC:9566] ENSG00000149761 NUDT22 365.9877 0.904437 protein_coding nudix hydrolase 22 [Source:HGNC 11 64225941 64230686 Symbol;Acc:HGNC:28189] ENSG00000132207 SLX1A 192.8989 0.904311 protein_coding SLX1 homolog A, structure-specific endonuclease 16 30193887 30197561 subunit [Source:HGNC Symbol;Acc:HGNC:20922] ENSG00000130520 LSM4 256.285 0.904219 protein_coding LSM4 homolog, U6 small nuclear RNA and mRNA 19 18306230 18323274 degradation associated [Source:HGNC Symbol;Acc:HGNC:17259] ENSG00000280607 AC009133.5 281.048 0.904076 lncRNA novel transcript 16 29808679 29812227 ENSG00000169223 LMAN2 137.8405 0.904046 protein_coding lectin, mannose binding 2 [Source:HGNC 5 1.77E+08 1.77E+08 Symbol;Acc:HGNC:16986] ENSG00000267426 AC087289.3 431.5414 0.903968 protein_coding novel protein 17 75898645 75930129 ENSG00000227330 AF130417.1 248.6946 0.903843 lncRNA novel transcript 21 18022370 18114904 ENSG00000115307 AUP1 546.3479 0.903525 protein_coding AUP1 lipid droplet regulating VLDL assembly factor 2 74526645 74529760 [Source:HGNC Symbol;Acc:HGNC:891] ENSG00000238045 AC009133.1 421.0059 0.903453 lncRNA novel transcript, antisense to C16orf53 and MVP 16 29808636 29821252 ENSG00000103495 MAZ 417.217 0.903366 protein_coding MYC associated zinc finger protein [Source:HGNC 16 29806106 29811164 Symbol;Acc:HGNC:6914] ENSG00000104976 SNAPC2 223.9933 0.903289 protein_coding small nuclear RNA activating complex polypeptide 2 19 7920338 7923250 [Source:HGNC Symbol;Acc:HGNC:11135] ENSG00000226441 PLCL2-AS1 385.0143 0.90327 lncRNA PLCL2 antisense RNA 1 [Source:HGNC 3 17042742 17044192 Symbol;Acc:HGNC:40449] ENSG00000122705 CLTA 335.437 0.903175 protein_coding clathrin light chain A [Source:HGNC 9 36190856 36304781 Symbol;Acc:HGNC:2090] ENSG00000130725 UBE2M 319.1238 0.902981 protein_coding ubiquitin conjugating enzyme E2 M [Source:HGNC 19 58555712 58558954 Symbol;Acc:HGNC:12491] ENSG00000126247 CAPNS1 297.3634 0.902878 protein_coding calpain small subunit 1 [Source:HGNC 19 36139953 36150353 Symbol;Acc:HGNC:1481] ENSG00000072958 AP1M1 364.3295 0.902842 protein_coding adaptor related protein complex 1 subunit mu 1 19 16197578 16245907 [Source:HGNC Symbol;Acc:HGNC:13667] ENSG00000249142 AC074134.1 360.5732 0.902824 processed_pseudogene transmembrane protein 183A (TMEM183A) pseudogene 5 32522758 32523865 ENSG00000100348 TXN2 165.2997 0.902791 protein_coding thioredoxin 2 [Source:HGNC Symbol;Acc:HGNC:17772] 22 36467046 36481640 ENSG00000226320 LINC01811 392.7977 0.902768 lncRNA long intergenic non-protein coding RNA 1811 3 33956972 34677247 [Source:HGNC Symbol;Acc:HGNC:52615] ENSG00000227356 LINC00866 104.4988 0.902663 lncRNA long intergenic non-protein coding RNA 866 10 97828478 97849798 [Source:HGNC Symbol;Acc:HGNC:45232] ENSG00000135940 COX5B 229.024 0.902626 protein_coding cytochrome c oxidase subunit 5B [Source:HGNC 2 97646062 97648383 Symbol;Acc:HGNC:2269] ENSG00000273088 AL713999.1 388.883 0.902385 protein_coding novel protein 1 1.55E+08 1.55E+08 ENSG00000256116 AP001453.1 374.9253 0.902374 lncRNA novel transcript 11 64229214 64234352 ENSG00000254986 DPP3 441.2346 0.902338 protein_coding dipeptidyl peptidase 3 [Source:HGNC 11 66480013 66509657 Symbol;Acc:HGNC:3008] ENSG00000105671 DDX49 484.9639 0.902151 protein_coding DEAD-box helicase 49 [Source:HGNC 19 18919705 18929189 Symbol;Acc:HGNC:18684] ENSG00000125912 NCLN 359.0515 0.901997 protein_coding nicalin [Source:HGNC Symbol;Acc:HGNC:26923] 19 3185563 3209575 ENSG00000175166 PSMD2 381.4839 0.901814 protein_coding proteasome 26S subunit, non-ATPase 2 [Source:HGNC 3 1.84E+08 1.84E+08 Symbol;Acc:HGNC:9559] ENSG00000227498 AC018359.1 380.6468 0.901801 lncRNA novel transcript 3 34524818 34543880 ENSG00000227421 LINC01724 412.3215 0.901754 lncRNA long intergenic non-protein coding RNA 1724 1 1.96E+08 1.96E+08 [Source:HGNC Symbol;Acc:HGNC:52512] ENSG00000273734 AC005258.1 314.8809 0.90158 protein_coding novel protein, readthrough between OAZ1 and SPPL2B 19 2269525 2341172 ENSG00000067829 IDH3G 456.9825 0.901535 protein_coding isocitrate dehydrogenase (NAD(+)) 3 gamma X 1.54E+08 1.54E+08 [Source:HGNC Symbol;Acc:HGNC:5386] ENSG00000269469 AC010619.1 207.403 0.901481 protein_coding novel protein 19 49462752 49486231 ENSG00000105726 ATP13A1 472.6309 0.901468 protein_coding ATPase 13A1 [Source:HGNC Symbol;Acc:HGNC:24215] 19 19645198 19663676 ENSG00000279246 AP003108.3 303.9737 0.901373 TEC novel transcript 11 61352244 61354477 ENSG00000225951 ODF2-AS1 269.0446 0.901366 lncRNA ODF2 antisense RNA 1 [Source:HGNC 9 1.28E+08 1.28E+08 Symbol;Acc:HGNC:49461] ENSG00000227417 AC114402.2 350.8333 0.901364 processed_pseudogene SNF7 domain containing 2 (SNF7DC20) pseudogene 1 2.04E+08 2.04E+08 ENSG00000065268 WDR18 202.4278 0.901202 protein_coding WD repeat domain 18 [Source:HGNC 19 984271 998438 Symbol;Acc:HGNC:17956] ENSG00000171570 RAB4B- 351.5053 0.901175 protein_coding RAB4B-EGLN2 readthrough (NMD candidate) 19 40778242 40808418 EGLN2 [Source:HGNC Symbol;Acc:HGNC:44465] ENSG00000227505 AC016925.1 537.2011 0.900867 processed_pseudogene SRA stem-loop interacting RNA binding protein, X 1.48E+08 1.48E+08 pseudogene ENSG00000174547 MRPL11 344.093 0.900746 protein_coding mitochondrial ribosomal protein L11 [Source:HGNC 11 66435075 66466738 Symbol;Acc:HGNC:14042] ENSG00000241468 ATP5MF 233.2767 0.900728 protein_coding ATP synthase membrane subunit f [Source:HGNC 7 99448475 99466331 Symbol;Acc:HGNC:848] ENSG00000130985 UBA1 504.9634 0.9007 protein_coding ubiquitin like modifier activating enzyme 1 X 47190861 47215128 [Source:HGNC Symbol;Acc:HGNC:12469] ENSG00000104823 ECH1 304.5439 0.900693 protein_coding enoyl-CoA hydratase 1 [Source:HGNC 19 38815422 38831841 Symbol;Acc:HGNC:3149] ENSG00000227033 AC019130.1 530.3395 0.900515 lncRNA novel transcript 2 2.32E+08 2.32E+08 ENSG00000108639 SYNGR2 318.5514 0.900365 protein_coding synaptogyrin 2 [Source:HGNC Symbol;Acc:HGNC:11499] 17 78168558 78173527 ENSG00000172803 SNX32 445.2011 0.900238 protein_coding sorting nexin 32 [Source:HGNC 11 65833834 65856896 Symbol;Acc:HGNC:26423] ENSG00000128973 CLN6 247.2286 0.900157 protein_coding CLN6 transmembrane ER protein [Source:HGNC 15 68206992 68257211 Symbol;Acc:HGNC:2077] ENSG00000007376 RPUSD1 321.4343 0.90011 protein_coding RNA pseudouridine synthase domain containing 1 16 784974 788397 [Source:HGNC Symbol;Acc:HGNC:14173] ENSG00000124593 AL365205.1 416.8117 0.900075 protein_coding novel protein 6 41780349 41790141 ENSG00000228285 LYPLA2P1 252.824 0.900067 processed_pseudogene LYPLA2 pseudogene 1 [Source:HGNC 6 33365548 33366243 Symbol;Acc:HGNC:21069] ENSG00000227667 AL392003.1 434.6895 0.900046 processed_pseudogene cytochrome c oxidase subunit VIIb (COX7B) pseudogene 1 1.63E+08 1.63E+08 ENSG00000148290 SURF1 423.3486 0.900026 protein_coding SURF1 cytochrome c oxidase assembly factor 9 1.33E+08 1.33E+08 [Source:HGNC Symbol;Acc:HGNC:11474]

Supplementary Table 3. Functional analyses of YIF1B-associated genes using IPA.

Ensembl Gene ID Gene Mutual Pearson Biotype Annotation Chromosome Gene Gene end Symbol Rank Correlation name start (bp) (bp) value ENSG00000167645 YIF1B 1 1 protein_coding Yip1 interacting factor homolog B, membrane trafficking 19 38303558 38317273 protein [Source:HGNC Symbol;Acc:HGNC:30511] ENSG00000099817 POLR2E 15.6205 0.937437 protein_coding RNA polymerase II subunit E [Source:HGNC 19 1086574 1095380 Symbol;Acc:HGNC:9192] ENSG00000169727 GPS1 24.91987 0.930217 protein_coding G protein pathway suppressor 1 [Source:HGNC 17 82050691 82057470 Symbol;Acc:HGNC:4549] ENSG00000267059 AC005943.1 27.12932 0.928445 protein_coding novel transcript, readthrough between UQCR11 and MBD3 19 1578339 1605445 ENSG00000174903 RAB1B 36.81032 0.928323 protein_coding RAB1B, member RAS oncogene family [Source:HGNC 11 66268590 66277492 Symbol;Acc:HGNC:18370] ENSG00000105669 COPE 55.74944 0.927297 protein_coding coatomer protein complex subunit epsilon [Source:HGNC 19 18899514 18919387 Symbol;Acc:HGNC:2234] ENSG00000126254 RBM42 59.10161 0.926428 protein_coding RNA binding motif protein 42 [Source:HGNC 19 35629030 35637686 Symbol;Acc:HGNC:28117] ENSG00000042753 AP2S1 13.2665 0.926191 protein_coding adaptor related protein complex 2 subunit sigma 1 19 46838136 46850992 [Source:HGNC Symbol;Acc:HGNC:565] ENSG00000254452 AP001107.2 40.13726 0.926106 lncRNA novel transcript 11 66276779 66277492 ENSG00000104805 NUCB1 20.73644 0.92452 protein_coding nucleobindin 1 [Source:HGNC Symbol;Acc:HGNC:8043] 19 48900312 48923372 ENSG00000161999 JMJD8 79.04429 0.923397 protein_coding jumonji domain containing 8 [Source:HGNC 16 681670 684528 Symbol;Acc:HGNC:14148] ENSG00000159069 FBXW5 53.66563 0.923102 protein_coding F-box and WD repeat domain containing 5 [Source:HGNC 9 1.37E+08 1.37E+08 Symbol;Acc:HGNC:13613] ENSG00000099795 NDUFB7 32.44996 0.922956 protein_coding NADH:ubiquinone oxidoreductase subunit B7 19 14566078 14572066 [Source:HGNC Symbol;Acc:HGNC:7702] ENSG00000007080 CCDC124 45.51923 0.922763 protein_coding coiled-coil domain containing 124 [Source:HGNC 19 17933015 17943991 Symbol;Acc:HGNC:25171] ENSG00000228024 CYP1D1P 77.16865 0.922372 unprocessed_pseudogene cytochrome P450 family 1 subfamily D member 1, 9 73042745 73056528 pseudogene [Source:HGNC Symbol;Acc:HGNC:39968] ENSG00000169627 BOLA2B 53.21654 0.921898 protein_coding bolA family member 2B [Source:HGNC 16 30192932 30194306 Symbol;Acc:HGNC:32479] ENSG00000267740 AC024592.3 74.33034 0.921785 protein_coding novel protein 19 5866171 5903787 ENSG00000125656 CLPP 89.6995 0.921636 protein_coding caseinolytic mitochondrial matrix peptidase proteolytic 19 6361531 6370242 subunit [Source:HGNC Symbol;Acc:HGNC:2084] ENSG00000007520 TSR3 79.30322 0.921609 protein_coding TSR3 ribosome maturation factor [Source:HGNC 16 1349240 1351878 Symbol;Acc:HGNC:14175] ENSG00000226465 AL390198.1 94.23375 0.921222 lncRNA novel transcript 20 25697003 25752776 ENSG00000228300 FAM174C 76.26926 0.920949 protein_coding family with sequence similarity 174 member C 19 1275530 1279244 [Source:HGNC Symbol;Acc:HGNC:26073] ENSG00000174886 NDUFA11 85.8487 0.920788 protein_coding NADH:ubiquinone oxidoreductase subunit A11 19 5891276 5904006 [Source:HGNC Symbol;Acc:HGNC:20371] ENSG00000011009 LYPLA2 94.71008 0.920217 protein_coding lysophospholipase 2 [Source:HGNC 1 23791145 23795539 Symbol;Acc:HGNC:6738] ENSG00000175756 AURKAIP1 51.14685 0.920019 protein_coding aurora kinase A interacting protein 1 [Source:HGNC 1 1373730 1375495 Symbol;Acc:HGNC:24114] ENSG00000171148 TADA3 26.92582 0.919883 protein_coding transcriptional adaptor 3 [Source:HGNC 3 9779860 9793011 Symbol;Acc:HGNC:19422] ENSG00000106244 PDAP1 129.7998 0.919585 protein_coding PDGFA associated protein 1 [Source:HGNC 7 99392048 99408597 Symbol;Acc:HGNC:14634] ENSG00000166337 TAF10 52.99057 0.919423 protein_coding TATA-box binding protein associated factor 10 11 6606294 6612539 [Source:HGNC Symbol;Acc:HGNC:11543] ENSG00000116685 KIAA2013 76.31514 0.919293 protein_coding KIAA2013 [Source:HGNC Symbol;Acc:HGNC:28513] 1 11919591 11926428 ENSG00000108515 ENO3 73.04793 0.919206 protein_coding enolase 3 [Source:HGNC Symbol;Acc:HGNC:3354] 17 4948092 4957131 ENSG00000147123 NDUFB11 112.9159 0.918974 protein_coding NADH:ubiquinone oxidoreductase subunit B11 X 47142216 47145504 [Source:HGNC Symbol;Acc:HGNC:20372] ENSG00000086504 MRPL28 67.04476 0.918516 protein_coding mitochondrial ribosomal protein L28 [Source:HGNC 16 366969 371289 Symbol;Acc:HGNC:14484] ENSG00000235191 NUCB1-AS1 46.64762 0.918512 lncRNA NUCB1 antisense RNA 1 [Source:HGNC 19 48910930 48918891 Symbol;Acc:HGNC:40419] ENSG00000227698 AP001619.1 81.64558 0.91776 lncRNA novel transcript 21 41874756 41877613 ENSG00000245156 AP001107.1 145.1895 0.91774 lncRNA novel transcript 11 66269832 66278525 ENSG00000071655 MBD3 122.6784 0.917662 protein_coding methyl-CpG binding domain protein 3 [Source:HGNC 19 1573596 1592865 Symbol;Acc:HGNC:6918] ENSG00000268983 AC005253.2 191.8124 0.917419 lncRNA novel transcript, antisense to KXD1 19 18568506 18569375 ENSG00000074071 MRPS34 81.38182 0.917219 protein_coding mitochondrial ribosomal protein S34 [Source:HGNC 16 1771890 1773155 Symbol;Acc:HGNC:16618] ENSG00000129925 TMEM8A 71.8888 0.91636 protein_coding transmembrane protein 8A [Source:HGNC 16 370788 387113 Symbol;Acc:HGNC:17205] ENSG00000107223 EDF1 192.0781 0.915608 protein_coding endothelial differentiation related factor 1 [Source:HGNC 9 1.37E+08 1.37E+08 Symbol;Acc:HGNC:3164] ENSG00000115241 PPM1G 153.1013 0.915408 protein_coding protein phosphatase, Mg2+/Mn2+ dependent 1G 2 27381195 27409591 [Source:HGNC Symbol;Acc:HGNC:9278] ENSG00000227109 CRIP1P3 172.7657 0.915214 processed_pseudogene cysteine rich protein 1 pseudogene 3 [Source:HGNC 1 2.02E+08 2.02E+08 Symbol;Acc:HGNC:44518] ENSG00000167118 URM1 251.8333 0.915131 protein_coding ubiquitin related modifier 1 [Source:HGNC 9 1.28E+08 1.28E+08 Symbol;Acc:HGNC:28378] ENSG00000124172 ATP5F1E 89.43154 0.915073 protein_coding ATP synthase F1 subunit epsilon [Source:HGNC 20 59025475 59032345 Symbol;Acc:HGNC:838] ENSG00000162144 CYB561A3 121.7703 0.914812 protein_coding cytochrome b561 family member A3 [Source:HGNC 11 61348745 61362299 Symbol;Acc:HGNC:23014] ENSG00000103266 STUB1 160.4369 0.914676 protein_coding STIP1 homology and U-box containing protein 1 16 680224 682870 [Source:HGNC Symbol;Acc:HGNC:11427] ENSG00000110108 TMEM109 59.89992 0.914563 protein_coding transmembrane protein 109 [Source:HGNC 11 60914158 60923443 Symbol;Acc:HGNC:28771] ENSG00000166595 CIAO2B 103.5181 0.914392 protein_coding cytosolic iron-sulfur assembly component 2B 16 66932065 66934423 [Source:HGNC Symbol;Acc:HGNC:24261] ENSG00000149476 TKFC 195.2229 0.914342 protein_coding triokinase and FMN cyclase [Source:HGNC 11 61333210 61353295 Symbol;Acc:HGNC:24552] ENSG00000163902 RPN1 93.91486 0.914268 protein_coding ribophorin I [Source:HGNC Symbol;Acc:HGNC:10381] 3 1.29E+08 1.29E+08 ENSG00000161618 ALDH16A1 55.22681 0.914179 protein_coding aldehyde dehydrogenase 16 family member A1 19 49453225 49471050 [Source:HGNC Symbol;Acc:HGNC:28114] ENSG00000144591 GMPPA 112.4633 0.913843 protein_coding GDP-mannose pyrophosphorylase A [Source:HGNC 2 2.19E+08 2.2E+08 Symbol;Acc:HGNC:22923] ENSG00000140990 NDUFB10 144.2221 0.913807 protein_coding NADH:ubiquinone oxidoreductase subunit B10 16 1959538 1961975 [Source:HGNC Symbol;Acc:HGNC:7696] ENSG00000256100 AP000721.1 76.00658 0.91363 protein_coding novel transcript 11 63974620 63988346 ENSG00000279009 AC005943.2 111.6871 0.913492 TEC TEC 19 1576939 1577086 ENSG00000064490 RFXANK 221.3707 0.913441 protein_coding regulatory factor X associated ankyrin containing protein 19 19192229 19201869 [Source:HGNC Symbol;Acc:HGNC:9987] ENSG00000143543 JTB 287.0122 0.913312 protein_coding jumping translocation breakpoint [Source:HGNC 1 1.54E+08 1.54E+08 Symbol;Acc:HGNC:6201] ENSG00000116898 MRPS15 146.2019 0.913249 protein_coding mitochondrial ribosomal protein S15 [Source:HGNC 1 36455718 36464384 Symbol;Acc:HGNC:14504] ENSG00000072506 HSD17B10 100.4589 0.913069 protein_coding hydroxysteroid 17-beta dehydrogenase 10 [Source:HGNC X 53431258 53434373 Symbol;Acc:HGNC:4800] ENSG00000104979 C19orf53 153.2384 0.912964 protein_coding chromosome 19 open reading frame 53 [Source:HGNC 19 13774456 13778773 Symbol;Acc:HGNC:24991] ENSG00000068120 COASY 196.8756 0.91268 protein_coding Coenzyme A synthase [Source:HGNC 17 42561467 42566277 Symbol;Acc:HGNC:29932] ENSG00000108518 PFN1 137.5136 0.912439 protein_coding profilin 1 [Source:HGNC Symbol;Acc:HGNC:8881] 17 4945652 4949061 ENSG00000159352 PSMD4 184.9973 0.912423 protein_coding proteasome 26S subunit, non-ATPase 4 [Source:HGNC 1 1.51E+08 1.51E+08 Symbol;Acc:HGNC:9561] ENSG00000226967 HAUS4P1 186.4832 0.912298 processed_pseudogene HAUS augmin like complex subunit 4 pseudogene 1 1 1.7E+08 1.7E+08 [Source:HGNC Symbol;Acc:HGNC:43763] ENSG00000227545 AC006455.2 157.9873 0.912226 processed_pseudogene solute carrier family 25 (mitochondrial carrier; citrate 7 63349154 63350059 transporter), member 1 (SLC25A1) pseudogene ENSG00000126768 TIMM17B 114.0175 0.912157 protein_coding translocase of inner mitochondrial membrane 17B X 48893447 48898143 [Source:HGNC Symbol;Acc:HGNC:17310] ENSG00000101182 PSMA7 236.1567 0.912014 protein_coding proteasome subunit alpha 7 [Source:HGNC 20 62136733 62143440 Symbol;Acc:HGNC:9536] ENSG00000224839 RPL12P17 41.73727 0.911917 processed_pseudogene ribosomal protein L12 pseudogene 17 [Source:HGNC 2 2.08E+08 2.08E+08 Symbol;Acc:HGNC:36263] ENSG00000105700 KXD1 345.3578 0.911664 protein_coding KxDL motif containing 1 [Source:HGNC 19 18557762 18569387 Symbol;Acc:HGNC:28420] ENSG00000227000 HSPD1P14 44.73254 0.911608 processed_pseudogene heat shock protein family D (Hsp60) member 1 1 33838523 33840140 pseudogene 14 [Source:HGNC Symbol;Acc:HGNC:35143] ENSG00000227908 AC016596.1 226.8259 0.911386 lncRNA novel transcript, antisense to IL6ST 5 55995167 56003649 ENSG00000233328 PFN1P1 128.3433 0.911199 processed_pseudogene profilin 1 pseudogene 1 [Source:HGNC 1 1.72E+08 1.72E+08 Symbol;Acc:HGNC:42989] ENSG00000226440 AL365214.2 152.2629 0.910921 lncRNA novel transcript 6 1.12E+08 1.12E+08 ENSG00000258674 AC011448.1 168.2974 0.910891 protein_coding novel protein 19 19516227 19536076 ENSG00000104872 PIH1D1 189.6418 0.910882 protein_coding PIH1 domain containing 1 [Source:HGNC 19 49446298 49453497 Symbol;Acc:HGNC:26075] ENSG00000228057 SEC63P1 256.9047 0.910192 processed_pseudogene SEC63 homolog, protein translocation regulator 1 97545701 97546958 pseudogene 1 [Source:HGNC Symbol;Acc:HGNC:41953] ENSG00000102030 NAA10 257.4335 0.909945 protein_coding N(alpha)-acetyltransferase 10, NatA catalytic subunit X 1.54E+08 1.54E+08 [Source:HGNC Symbol;Acc:HGNC:18704] ENSG00000227515 C1DP4 104.1969 0.909878 processed_pseudogene C1D nuclear receptor corepressor pseudogene 4 10 80040621 80041044 [Source:HGNC Symbol;Acc:HGNC:38028] ENSG00000116521 SCAMP3 174.6368 0.90982 protein_coding secretory carrier membrane protein 3 [Source:HGNC 1 1.55E+08 1.55E+08 Symbol;Acc:HGNC:10565] ENSG00000172757 CFL1 246.4772 0.909766 protein_coding cofilin 1 [Source:HGNC Symbol;Acc:HGNC:1874] 11 65823022 65862026 ENSG00000273003 ARL2- 139.4274 0.909722 protein_coding ARL2-SNX15 readthrough (NMD candidate) [Source:HGNC 11 65014182 65040570 SNX15 Symbol;Acc:HGNC:49197] ENSG00000119777 TMEM214 152.2038 0.909501 protein_coding transmembrane protein 214 [Source:HGNC 2 27032910 27041694 Symbol;Acc:HGNC:25983] ENSG00000131653 TRAF7 207.6824 0.90941 protein_coding TNF receptor associated factor 7 [Source:HGNC 16 2155698 2178129 Symbol;Acc:HGNC:20456] ENSG00000105393 BABAM1 232.45 0.909404 protein_coding BRISC and BRCA1 A complex member 1 [Source:HGNC 19 17267376 17281249 Symbol;Acc:HGNC:25008] ENSG00000167674 HDGFL2 254.3226 0.909284 protein_coding HDGF like 2 [Source:HGNC Symbol;Acc:HGNC:14680] 19 4472297 4502208 ENSG00000226450 CYP2D8P 59.03389 0.908852 unprocessed_pseudogene ccytochrome P450 family 2 subfamily D member 8, 22 42149886 42155001 pseudogene [Source:HGNC Symbol;Acc:HGNC:2628] ENSG00000106153 CHCHD2 274.1605 0.908717 protein_coding coiled-coil-helix-coiled-coil-helix domain containing 2 7 56101573 56106476 [Source:HGNC Symbol;Acc:HGNC:21645] ENSG00000172531 PPP1CA 273.0549 0.908665 protein_coding protein phosphatase 1 catalytic subunit alpha 11 67398183 67421183 [Source:HGNC Symbol;Acc:HGNC:9281] ENSG00000111481 COPZ1 326.5823 0.908398 protein_coding coatomer protein complex subunit zeta 1 [Source:HGNC 12 54301202 54351846 Symbol;Acc:HGNC:2243] ENSG00000002822 MAD1L1 108.798 0.908324 protein_coding mitotic arrest deficient 1 like 1 [Source:HGNC 7 1815793 2233243 Symbol;Acc:HGNC:6762] ENSG00000161203 AP2M1 231.7973 0.908083 protein_coding adaptor related protein complex 2 subunit mu 1 3 1.84E+08 1.84E+08 [Source:HGNC Symbol;Acc:HGNC:564] ENSG00000140264 SERF2 241.8946 0.908049 protein_coding small EDRK-rich factor 2 [Source:HGNC 15 43777087 43802589 Symbol;Acc:HGNC:10757] ENSG00000100243 CYB5R3 142.2674 0.907948 protein_coding cytochrome b5 reductase 3 [Source:HGNC 22 42617840 42649392 Symbol;Acc:HGNC:2873] ENSG00000115234 SNX17 266.9045 0.907398 protein_coding sorting nexin 17 [Source:HGNC Symbol;Acc:HGNC:14979] 2 27370496 27377535 ENSG00000254692 AL136295.1 298.5163 0.907354 protein_coding novel protein 14 24189157 24213473 ENSG00000134882 UBAC2 220.5448 0.907292 protein_coding UBA domain containing 2 [Source:HGNC 13 99200774 99386504 Symbol;Acc:HGNC:20486] ENSG00000160446 ZDHHC12 127.7498 0.907143 protein_coding zinc finger DHHC-type containing 12 [Source:HGNC 9 1.29E+08 1.29E+08 Symbol;Acc:HGNC:19159] ENSG00000140365 COMMD4 119.4111 0.906897 protein_coding COMM domain containing 4 [Source:HGNC 15 75336020 75343224 Symbol;Acc:HGNC:26027] ENSG00000269307 AC010463.1 221.138 0.906862 protein_coding novel transcript 19 17267418 17282966 ENSG00000167863 ATP5PD 155.422 0.90685 protein_coding ATP synthase peripheral stalk subunit d [Source:HGNC 17 75038863 75046985 Symbol;Acc:HGNC:845] ENSG00000114867 EIF4G1 316.0696 0.906696 protein_coding eukaryotic translation initiation factor 4 gamma 1 3 1.84E+08 1.84E+08 [Source:HGNC Symbol;Acc:HGNC:3296] ENSG00000104886 PLEKHJ1 243.2817 0.90664 protein_coding pleckstrin homology domain containing J1 [Source:HGNC 19 2230084 2237704 Symbol;Acc:HGNC:18211] ENSG00000144785 AC073896.1 390.8913 0.906178 protein_coding novel protein 12 56285916 56316059 ENSG00000169718 DUS1L 433.7983 0.906132 protein_coding dihydrouridine synthase 1 like [Source:HGNC 17 82057506 82065887 Symbol;Acc:HGNC:30086] ENSG00000269335 IKBKG 308.6487 0.906106 protein_coding inhibitor of nuclear factor kappa B kinase regulatory X 1.55E+08 1.55E+08 subunit gamma [Source:HGNC Symbol;Acc:HGNC:5961] ENSG00000148834 GSTO1 130.4224 0.905968 protein_coding glutathione S-transferase omega 1 [Source:HGNC 10 1.04E+08 1.04E+08 Symbol;Acc:HGNC:13312] ENSG00000255949 RPS6KB2- 237.6931 0.905856 lncRNA RPS6KB2 antisense RNA 1 [Source:HGNC 11 67431367 67435399 AS1 Symbol;Acc:HGNC:53744] ENSG00000126453 BCL2L12 335.8244 0.905813 protein_coding BCL2 like 12 [Source:HGNC Symbol;Acc:HGNC:13787] 19 49665142 49673916 ENSG00000254999 BRK1 357.4409 0.90577 protein_coding BRICK1 subunit of SCAR/WAVE actin nucleating complex 3 10115675 10127190 [Source:HGNC Symbol;Acc:HGNC:23057] ENSG00000132394 EEFSEC 146.1643 0.905747 protein_coding eukaryotic elongation factor, selenocysteine-tRNA specific 3 1.28E+08 1.28E+08 [Source:HGNC Symbol;Acc:HGNC:24614] ENSG00000226718 SNRPGP8 409.1699 0.905676 processed_pseudogene small nuclear ribonucleoprotein polypeptide G pseudogene 2 2.28E+08 2.28E+08 8 [Source:HGNC Symbol;Acc:HGNC:39327] ENSG00000095906 NUBP2 204.2939 0.905664 protein_coding nucleotide binding protein 2 [Source:HGNC 16 1782932 1789186 Symbol;Acc:HGNC:8042] ENSG00000141959 PFKL 334.9985 0.905433 protein_coding phosphofructokinase, liver type [Source:HGNC 21 44300051 44327376 Symbol;Acc:HGNC:8876] ENSG00000131652 THOC6 279.2311 0.905368 protein_coding THO complex 6 [Source:HGNC Symbol;Acc:HGNC:28369] 16 3024027 3027755 ENSG00000143612 C1orf43 296.4692 0.905112 protein_coding chromosome 1 open reading frame 43 [Source:HGNC 1 1.54E+08 1.54E+08 Symbol;Acc:HGNC:29876] ENSG00000170043 TRAPPC1 292.5064 0.904856 protein_coding trafficking protein particle complex 1 [Source:HGNC 17 7930345 7932123 Symbol;Acc:HGNC:19894] ENSG00000275882 IKBKGP1 255.3272 0.904737 unprocessed_pseudogene inhibitor of nuclear factor kappa B kinase subunit gamma X 1.55E+08 1.55E+08 pseudogene 1 [Source:HGNC Symbol;Acc:HGNC:24455] ENSG00000108344 PSMD3 417.9486 0.904702 protein_coding proteasome 26S subunit, non-ATPase 3 [Source:HGNC 17 39980807 39997959 Symbol;Acc:HGNC:9560] ENSG00000226115 AP001476.2 129.9 0.904676 lncRNA novel transcript 21 46056516 46057567 ENSG00000004142 POLDIP2 357 0.904655 protein_coding DNA polymerase delta interacting protein 2 [Source:HGNC 17 28346633 28357527 Symbol;Acc:HGNC:23781] ENSG00000099341 PSMD8 298.7976 0.904524 protein_coding proteasome 26S subunit, non-ATPase 8 [Source:HGNC 19 38374536 38383824 Symbol;Acc:HGNC:9566] ENSG00000149761 NUDT22 365.9877 0.904437 protein_coding nudix hydrolase 22 [Source:HGNC 11 64225941 64230686 Symbol;Acc:HGNC:28189] ENSG00000132207 SLX1A 192.8989 0.904311 protein_coding SLX1 homolog A, structure-specific endonuclease subunit 16 30193887 30197561 [Source:HGNC Symbol;Acc:HGNC:20922] ENSG00000130520 LSM4 256.285 0.904219 protein_coding LSM4 homolog, U6 small nuclear RNA and mRNA 19 18306230 18323274 degradation associated [Source:HGNC Symbol;Acc:HGNC:17259] ENSG00000280607 AC009133.5 281.048 0.904076 lncRNA novel transcript 16 29808679 29812227 ENSG00000169223 LMAN2 137.8405 0.904046 protein_coding lectin, mannose binding 2 [Source:HGNC 5 1.77E+08 1.77E+08 Symbol;Acc:HGNC:16986] ENSG00000267426 AC087289.3 431.5414 0.903968 protein_coding novel protein 17 75898645 75930129 ENSG00000227330 AF130417.1 248.6946 0.903843 lncRNA novel transcript 21 18022370 18114904 ENSG00000115307 AUP1 546.3479 0.903525 protein_coding AUP1 lipid droplet regulating VLDL assembly factor 2 74526645 74529760 [Source:HGNC Symbol;Acc:HGNC:891] ENSG00000238045 AC009133.1 421.0059 0.903453 lncRNA novel transcript, antisense to C16orf53 and MVP 16 29808636 29821252 ENSG00000103495 MAZ 417.217 0.903366 protein_coding MYC associated zinc finger protein [Source:HGNC 16 29806106 29811164 Symbol;Acc:HGNC:6914] ENSG00000104976 SNAPC2 223.9933 0.903289 protein_coding small nuclear RNA activating complex polypeptide 2 19 7920338 7923250 [Source:HGNC Symbol;Acc:HGNC:11135] ENSG00000226441 PLCL2-AS1 385.0143 0.90327 lncRNA PLCL2 antisense RNA 1 [Source:HGNC 3 17042742 17044192 Symbol;Acc:HGNC:40449] ENSG00000122705 CLTA 335.437 0.903175 protein_coding clathrin light chain A [Source:HGNC 9 36190856 36304781 Symbol;Acc:HGNC:2090] ENSG00000130725 UBE2M 319.1238 0.902981 protein_coding ubiquitin conjugating enzyme E2 M [Source:HGNC 19 58555712 58558954 Symbol;Acc:HGNC:12491] ENSG00000126247 CAPNS1 297.3634 0.902878 protein_coding calpain small subunit 1 [Source:HGNC 19 36139953 36150353 Symbol;Acc:HGNC:1481] ENSG00000072958 AP1M1 364.3295 0.902842 protein_coding adaptor related protein complex 1 subunit mu 1 19 16197578 16245907 [Source:HGNC Symbol;Acc:HGNC:13667] ENSG00000249142 AC074134.1 360.5732 0.902824 processed_pseudogene transmembrane protein 183A (TMEM183A) pseudogene 5 32522758 32523865 ENSG00000100348 TXN2 165.2997 0.902791 protein_coding thioredoxin 2 [Source:HGNC Symbol;Acc:HGNC:17772] 22 36467046 36481640 ENSG00000226320 LINC01811 392.7977 0.902768 lncRNA long intergenic non-protein coding RNA 1811 3 33956972 34677247 [Source:HGNC Symbol;Acc:HGNC:52615] ENSG00000227356 LINC00866 104.4988 0.902663 lncRNA long intergenic non-protein coding RNA 866 [Source:HGNC 10 97828478 97849798 Symbol;Acc:HGNC:45232] ENSG00000135940 COX5B 229.024 0.902626 protein_coding cytochrome c oxidase subunit 5B [Source:HGNC 2 97646062 97648383 Symbol;Acc:HGNC:2269] ENSG00000273088 AL713999.1 388.883 0.902385 protein_coding novel protein 1 1.55E+08 1.55E+08 ENSG00000256116 AP001453.1 374.9253 0.902374 lncRNA novel transcript 11 64229214 64234352 ENSG00000254986 DPP3 441.2346 0.902338 protein_coding dipeptidyl peptidase 3 [Source:HGNC 11 66480013 66509657 Symbol;Acc:HGNC:3008] ENSG00000105671 DDX49 484.9639 0.902151 protein_coding DEAD-box helicase 49 [Source:HGNC 19 18919705 18929189 Symbol;Acc:HGNC:18684] ENSG00000125912 NCLN 359.0515 0.901997 protein_coding nicalin [Source:HGNC Symbol;Acc:HGNC:26923] 19 3185563 3209575 ENSG00000175166 PSMD2 381.4839 0.901814 protein_coding proteasome 26S subunit, non-ATPase 2 [Source:HGNC 3 1.84E+08 1.84E+08 Symbol;Acc:HGNC:9559] ENSG00000227498 AC018359.1 380.6468 0.901801 lncRNA novel transcript 3 34524818 34543880 ENSG00000227421 LINC01724 412.3215 0.901754 lncRNA long intergenic non-protein coding RNA 1724 1 1.96E+08 1.96E+08 [Source:HGNC Symbol;Acc:HGNC:52512] ENSG00000273734 AC005258.1 314.8809 0.90158 protein_coding novel protein, readthrough between OAZ1 and SPPL2B 19 2269525 2341172 ENSG00000067829 IDH3G 456.9825 0.901535 protein_coding isocitrate dehydrogenase (NAD(+)) 3 gamma [Source:HGNC X 1.54E+08 1.54E+08 Symbol;Acc:HGNC:5386] ENSG00000269469 AC010619.1 207.403 0.901481 protein_coding novel protein 19 49462752 49486231 ENSG00000105726 ATP13A1 472.6309 0.901468 protein_coding ATPase 13A1 [Source:HGNC Symbol;Acc:HGNC:24215] 19 19645198 19663676 ENSG00000279246 AP003108.3 303.9737 0.901373 TEC novel transcript 11 61352244 61354477 ENSG00000225951 ODF2-AS1 269.0446 0.901366 lncRNA ODF2 antisense RNA 1 [Source:HGNC 9 1.28E+08 1.28E+08 Symbol;Acc:HGNC:49461] ENSG00000227417 AC114402.2 350.8333 0.901364 processed_pseudogene SNF7 domain containing 2 (SNF7DC20) pseudogene 1 2.04E+08 2.04E+08 ENSG00000065268 WDR18 202.4278 0.901202 protein_coding WD repeat domain 18 [Source:HGNC 19 984271 998438 Symbol;Acc:HGNC:17956] ENSG00000171570 RAB4B- 351.5053 0.901175 protein_coding RAB4B-EGLN2 readthrough (NMD candidate) 19 40778242 40808418 EGLN2 [Source:HGNC Symbol;Acc:HGNC:44465] ENSG00000227505 AC016925.1 537.2011 0.900867 processed_pseudogene SRA stem-loop interacting RNA binding protein, X 1.48E+08 1.48E+08 pseudogene ENSG00000174547 MRPL11 344.093 0.900746 protein_coding mitochondrial ribosomal protein L11 [Source:HGNC 11 66435075 66466738 Symbol;Acc:HGNC:14042] ENSG00000241468 ATP5MF 233.2767 0.900728 protein_coding ATP synthase membrane subunit f [Source:HGNC 7 99448475 99466331 Symbol;Acc:HGNC:848] ENSG00000130985 UBA1 504.9634 0.9007 protein_coding ubiquitin like modifier activating enzyme 1 [Source:HGNC X 47190861 47215128 Symbol;Acc:HGNC:12469] ENSG00000104823 ECH1 304.5439 0.900693 protein_coding enoyl-CoA hydratase 1 [Source:HGNC 19 38815422 38831841 Symbol;Acc:HGNC:3149] ENSG00000227033 AC019130.1 530.3395 0.900515 lncRNA novel transcript 2 2.32E+08 2.32E+08 ENSG00000108639 SYNGR2 318.5514 0.900365 protein_coding synaptogyrin 2 [Source:HGNC Symbol;Acc:HGNC:11499] 17 78168558 78173527 ENSG00000172803 SNX32 445.2011 0.900238 protein_coding sorting nexin 32 [Source:HGNC Symbol;Acc:HGNC:26423] 11 65833834 65856896 ENSG00000128973 CLN6 247.2286 0.900157 protein_coding CLN6 transmembrane ER protein [Source:HGNC 15 68206992 68257211 Symbol;Acc:HGNC:2077] ENSG00000007376 RPUSD1 321.4343 0.90011 protein_coding RNA pseudouridine synthase domain containing 1 16 784974 788397 [Source:HGNC Symbol;Acc:HGNC:14173] ENSG00000124593 AL365205.1 416.8117 0.900075 protein_coding novel protein 6 41780349 41790141 ENSG00000228285 LYPLA2P1 252.824 0.900067 processed_pseudogene LYPLA2 pseudogene 1 [Source:HGNC 6 33365548 33366243 Symbol;Acc:HGNC:21069] ENSG00000227667 AL392003.1 434.6895 0.900046 processed_pseudogene cytochrome c oxidase subunit VIIb (COX7B) pseudogene 1 1.63E+08 1.63E+08 ENSG00000148290 SURF1 423.3486 0.900026 protein_coding SURF1 cytochrome c oxidase assembly factor 9 1.33E+08 1.33E+08 [Source:HGNC Symbol;Acc:HGNC:11474]

SUPPLEMENTARY REFERENCES

1 Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al- Harazi OS, Al-Hindi H, Malibari OIet al (2015) ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet 52: 186-194 Doi 10.1136/jmedgenet-2014-102592 2 Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza Met al (2013) Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. Am J Hum Genet 93: 721-726 Doi 10.1016/j.ajhg.2013.08.001 3 Arnold K, Bordoli L, Kopp J, Schwede T (2006) The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22: 195-201 4 Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Zet al (2019) Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. Eur J Neurol: Doi 10.1111/ene.14082 5 Consortium GT (2013) The Genotype-Tissue Expression (GTEx) project. Nat Genet 45: 580- 585 6 de Rie D, Abugessaisa I, Alam T, Arner E, Arner P, Ashoor H, Astrom G, Babina M, Bertin N, Burroughs AMet al (2017) An integrated expression atlas of miRNAs and their promoters in human and mouse. Nat Biotechnol 35: 872-878 Doi 10.1038/nbt.3947 7 Kallberg M, Margaryan G, Wang S, Ma J, Xu J (2014) RaptorX server: a resource for template-based protein structure modeling. Methods Mol Biol 1137: 17-27 Doi 10.1007/978-1-4939-0366-5_2 8 Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies Det al (2016) KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. J Med Genet 53: 786-792 Doi 10.1136/jmedgenet-2015-103637 9 Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KGet al (2016) Clinical application of whole-exome sequencing across clinical indications. Genet Med 18: 696-704 10 Stuart JM, Segal E, Koller D, Kim SK (2003) A gene-coexpression network for global discovery of conserved genetic modules. Science 302: 249-255 Doi 10.1126/science.1087447 11 Thul PJ, Akesson L, Wiking M, Mahdessian D, Geladaki A, Ait Blal H, Alm T, Asplund A, Bjork L, Breckels LMet al (2017) A subcellular map of the human proteome. Science 356: Doi 10.1126/science.aal3321 12 Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Koster J, Marais A, Paknia O, Schroder R, Garcia-Aznar JM, Werber Met al (2017) Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet 25: 176-182 13 Uhlen M, Fagerberg L, Hallstrom BM, Lindskog C, Oksvold P, Mardinoglu A, Sivertsson A, Kampf C, Sjostedt E, Asplund Aet al (2015) Proteomics. Tissue-based map of the human proteome. Science 347: 1260419 Doi 10.1126/science.1260419 14 Uhlen M, Zhang C, Lee S, Sjostedt E, Fagerberg L, Bidkhori G, Benfeitas R, Arif M, Liu Z, Edfors Fet al (2017) A pathology atlas of the human cancer transcriptome. Science 357: Doi 10.1126/science.aan2507 15 van Dam S, Craig T, de Magalhaes JP (2015) GeneFriends: a human RNA-seq-based gene and transcript co-expression database. Nucleic Acids Res 43: D1124-1132 Doi 10.1093/nar/gku1042 16 Yang J, Yan R, Roy A, Xu D, Poisson J, Zhang Y (2015) The I-TASSER Suite: protein structure and function prediction. Nat Methods 12: 7-8 Doi 10.1038/nmeth.3213