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AF1Q ALL1-Fused Gene from Chromosome 1Q PPP2CB Protein

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AF1Q ALL1-fused gene from chromosome 1q PPP2CB protein phosphatase 2 formerly 2A, catalytic subunit, beta isoform TLK1 tousled-like kinase 1 WFDC2 WAP four-disulfide core domain 2 FVT1 follicular lymphoma variant translocation 1 MYL5 myosin, light polypeptide 5, regulatory FECH ferrochelatase protoporphyria BECN1 beclin 1 coiled-coil, myosin-like BCL2 interacting protein AQP3 aquaporin 3 ATP5G1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c subunit 9, isoform 1 BMP4 bone morphogenetic protein 4 ANK3 ankyrin 3, node of Ranvier ankyrin G EIF4G3 eukaryotic translation initiation factor 4 gamma, 3 HSF2 heat shock transcription factor 2 FLT1 fms-related tyrosine kinase 1 vascular endothelial growth factor/vascular permeability factor receptor BIRC1 baculoviral IAP repeat-containing 1 BST2 bone marrow stromal cell antigen 2 CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 non-specific cross reacting antigen MAP2K4 mitogen-activated protein kinase kinase 4 BLVRA biliverdin reductase A MSX2 msh homeo box homolog 2 Drosophila ACADSB acyl-Coenzyme A dehydrogenase, short/branched chain QDPR quinoid dihydropteridine reductase LRBA LPS-responsive vesicle trafficking, beach and anchor containing BF B-factor, properdin RAB2L RAB2, member RAS oncogene family-like APBB2 amyloid beta A4 precursor protein-binding, family B, member 2 Fe65-like TFF1 trefoil factor 1 breast cancer, estrogen-inducible sequence expressed in TFF3 trefoil factor 3 intestinal FOXA1 forkhead box A1 XBP1 X-box binding protein 1 GATA3 GATA binding protein 3 COX6C cytochrome c oxidase subunit VIc ESR1 estrogen receptor 1 LIV-1 LIV-1 protein, estrogen regulated LU Lutheran blood group Auberger b antigen included TCEAL1 transcription elongation factor A SII-like 1 SCNN1A sodium channel, nonvoltage-gated 1 alpha GPX4 glutathione peroxidase 4 phospholipid hydroperoxidase DXS1283E GS2 gene MUC1 mucin 1, transmembrane SEMA3C sema domain, immunoglobulin domain Ig, short basic domain, secreted, semaphorin 3C STHM sialyltransferase DUSP4 dual specificity phosphatase 4 PTP4A2 protein tyrosine phosphatase type IVA, member 2 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 FLNB filamin B, beta actin binding protein 278 RNASE4 ribonuclease, RNase A family, 4 AGTR1 angiotensin II receptor, type 1 GRIA2 glutamate receptor, ionotropic, AMPA 2 PRKACB protein kinase, cAMP-dependent, catalytic, beta NDP Norrie disease pseudoglioma CYP2A6 cytochrome P450, subfamily IIA phenobarbital-inducible, polypeptide 6 MGST2 microsomal glutathione S-transferase 2 IRS1 insulin receptor substrate 1 EPOR erythropoietin receptor LIG3 ligase III, DNA, ATP-dependent DDB1 damage-specific DNA binding protein 1, 127kDa KIAA0182 KIAA0182 protein CYB5 cytochrome b-5 EPHX2 epoxide hydrolase 2, cytoplasmic PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 SSFA2 sperm specific antigen 2 CHGB chromogranin B secretogranin 1 PIR Pirin ZFX zinc finger protein, X-linked PBP prostatic binding protein CYFIP2 cytoplasmic FMR1 interacting protein 2 FMO5 flavin containing monooxygenase 5 PLXNB1 plexin B1 MT1L metallothionein 1L ARFRP1 ADP-ribosylation factor related protein 1 RAB31 RAB31, member RAS oncogene family S100P S100 calcium binding protein P GRLF1 glucocorticoid receptor DNA binding factor 1 CANX calnexin ZIM2 zinc finger, imprinted 2 TLE3 transducin-like enhancer of split 3 Esp1 homolog, Drosophila FMOD fibromodulin TFPI2 tissue factor pathway inhibitor 2 APOD apolipoprotein D HMGCS2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 mitochondrial LTF lactotransferrin CA2 carbonic anhydrase II IGFBP5 insulin-like growth factor binding protein 5 TCN1 transcobalamin I vitamin B12 binding protein, R binder family GSTM3 glutathione S-transferase M3 brain LGALS9 lectin, galactoside-binding, soluble, 9 galectin 9 PPIF peptidylprolyl isomerase F cyclophilin F PDK3 pyruvate dehydrogenase kinase, isoenzyme 3 CDH1 cadherin 1, type 1, E-cadherin epithelial CTSH cathepsin H ADRM1 adhesion regulating molecule 1 FLOT2 flotillin 2 ZNF220 zinc finger protein 220 FGFR4 fibroblast growth factor receptor 4 IFRD1 interferon-related developmental regulator 1 CUL1 cullin 1 TMSNB thymosin, beta, identified in neuroblastoma cells ACAA2 acetyl-Coenzyme A acyltransferase 2 mitochondrial 3-oxoacyl-Coenzyme A thiolase MADH4 MAD, mothers against decapentaplegic homolog 4 Drosophila UBE1 ubiquitin-activating enzyme E1 A1S9T and BN75 temperature sensitivity complementing GNB2L1 guanine nucleotide binding protein G protein, beta polypeptide 2-like 1 RPL27A ribosomal protein L27a RPS23 ribosomal protein S23 RPL32 ribosomal protein L32 SLC11A2 solute carrier family 11 proton-coupled divalent metal ion transporters, member 2 TMSB10 thymosin, beta 10 BTN3A2 butyrophilin, subfamily 3, member A2 VCL vinculin NSEP1 nuclease sensitive element binding protein 1 GARS glycyl-tRNA synthetase MFGE8 milk fat globule-EGF factor 8 protein PDGFRA platelet-derived growth factor receptor, alpha polypeptide ADSL adenylosuccinate lyase FLJ13291 hypothetical protein FLJ13291 FLJ12442 hypothetical protein FLJ12442 SOX9 SRY sex determining region Y-box 9 campomelic dysplasia, autosomal sex-reversal MCM3 MCM3 minichromosome maintenance deficient 3 S. cerevisiae PLOD procollagen-lysine, 2-oxoglutarate 5-dioxygenase lysine hydroxylase, Ehlers-Danlos syndrome type VI ANXA8 annexin A8 CBR1 carbonyl reductase 1 S100A1 S100 calcium binding protein A1 BTG3 BTG family, member 3 TP53BP2 tumor protein p53 binding protein, 2 CHI3L2 chitinase 3-like 2 CRABP1 cellular retinoic acid binding protein 1 PTPRK protein tyrosine phosphatase, receptor type, K CDH3 cadherin 3, type 1, P-cadherin placental TRIM29 tripartite motif-containing 29 CX3CL1 chemokine C-X3-C motif ligand 1 LAD1 ladinin 1 S100A11 S100 calcium binding protein A11 calgizzarin GGH gamma-glutamyl hydrolase conjugase, folylpolygammaglutamyl hydrolase CSDA cold shock domain protein A CTPS CTP synthase KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog SLPI secretory leukocyte protease inhibitor antileukoproteinase KRT5 keratin 5 epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 GalNAc-T3 CP ceruloplasmin ferroxidase ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein PRAME preferentially expressed antigen in melanoma TAP1 transporter 1, ATP-binding cassette, sub-family B MDR/TAP ICAP-1A integrin cytoplasmic domain-associated protein 1 TGFBR3 transforming growth factor, beta receptor III betaglycan, 300kDa PPP6C protein phosphatase 6, catalytic subunit IGBP1 immunoglobulin CD79A binding protein 1 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 Renal tubular acidosis with deafness RPL10 ribosomal protein L10 CRAT carnitine acetyltransferase CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 TCF12 transcription factor 12 HTF4, helix-loop-helix transcription factors 4 KIAA0205 KIAA0205 gene product PXMP3 peroxisomal membrane protein 3, 35kDa Zellweger syndrome MX1 myxovirus influenza virus resistance 1, interferon-inducible protein p78 mouse FADD Fas TNFRSF6-associated via death domain EBNA1BP2 EBNA1 binding protein 2 RPL5 ribosomal protein L5 MYH9 myosin, heavy polypeptide 9, non-muscle TFAP2C transcription factor AP-2 gamma activating enhancer binding protein 2 gamma STK38 serine/threonine kinase 38 RB1CC1 RB1-inducible coiled-coil 1 GNG10 guanine nucleotide binding protein 10 CNN3 calponin 3, acidic EXT2 exostoses multiple 2 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ANXA7 annexin A7 PTK9 protein tyrosine kinase 9 SLC20A1 solute carrier family 20 phosphate transporter, member 1 GLUD1 glutamate dehydrogenase 1 BMI1 B lymphoma Mo-MLV insertion region mouse TM9SF2 transmembrane 9 superfamily member 2 KIAA0193 KIAA0193 gene product SLC20A2 solute carrier family 20 phosphate transporter, member 2 ABLIM1 actin binding LIM protein 1 KCNK1 potassium channel, subfamily K, member 1 HK1 hexokinase 1 FXYD3 FXYD domain containing ion transport regulator 3 ALCAM activated leukocyte cell adhesion molecule RAB9A RAB9A, member RAS oncogene family KIAA0233 KIAA0233 gene product PTMS parathymosin NQO1 NADPH dehydrogenase, quinone 1 ASAH1 N-acylsphingosine amidohydrolase acid ceramidase 1 SELENBP1 selenium binding protein 1 SQLE squalene epoxidase AP2S1 adaptor-related protein complex 2, sigma 1 subunit ATOX1 ATX1 antioxidant protein 1 homolog yeast ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c’’ NME4 non-metastatic cells 4, protein expressed in DP1 likely ortholog of mouse deleted in polyposis 1 GPI glucose phosphate isomerase NUDT5 nudix nucleoside diphosphate linked moiety X-type motif 5 ACO2 aconitase 2, mitochondrial SPTAN1 spectrin, alpha, non-erythrocytic 1 alpha-fodrin AMFR autocrine motility factor receptor PRDX4 peroxiredoxin 4 PREP prolyl endopeptidase SERPINH2 serine or cysteine proteinase inhibitor, clade H heat shock protein 47, member 2 ZFP36L2 zinc finger protein 36, C3H type-like 2 ECE1 endothelin converting enzyme 1 S100A10 S100 calcium binding protein A10 annexin II ligand, calpactin I, light polypeptide p11 OS-9 amplified in osteosarcoma GRB7 growth factor receptor-bound protein 7 TRAP100 thyroid hormone receptor-associated protein 100 kDa ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog avian
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  • Genes Investigated

    Genes Investigated

    BabyNEXTTM EXTENDED Investigated genes and associated diseases Gene Disease OMIM OMIM Condition RUSP gene Disease ABCC8 Familial hyperinsulinism 600509 256450 Metabolic disorder - ABCC8-related Inborn error of amino acid metabolism ABCD1 Adrenoleukodystrophy 300371 300100 Miscellaneous RUSP multisystem (C) * diseases ABCD4 Methylmalonic aciduria and 603214 614857 Metabolic disorder - homocystinuria, cblJ type Inborn error of amino acid metabolism ACAD8 Isobutyryl-CoA 604773 611283 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of (S) ** organic acid metabolism ACAD9 acyl-CoA dehydrogenase-9 611103 611126 Metabolic Disorder - (ACAD9) deficiency Inborn error of fatty acid metabolism ACADM Acyl-CoA dehydrogenase, 607008 201450 Metabolic Disorder - RUSP medium chain, deficiency of Inborn error of fatty (C) acid metabolism ACADS Acyl-CoA dehydrogenase, 606885 201470 Metabolic Disorder - RUSP short-chain, deficiency of Inborn error of fatty (S) acid metabolism ACADSB 2-methylbutyrylglycinuria 600301 610006 Metabolic Disorder - RUSP Inborn error of (S) organic acid metabolism ACADVL very long-chain acyl-CoA 609575 201475 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of fatty (C) acid metabolism ACAT1 Alpha-methylacetoacetic 607809 203750 Metabolic Disorder - RUSP aciduria Inborn error of (C) organic acid metabolism ACSF3 Combined malonic and 614245 614265 Metabolic Disorder - methylmalonic aciduria Inborn error of organic acid metabolism 1 ADA Severe combined 608958 102700 Primary RUSP immunodeficiency due