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Atlas Journal Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Database/Text-Book. TABLE OF CONTENTS Volume 5, Number 1, Jan-Mar 2001 Previous Issue / Next Issue Genes GRAF (GTPase activating protein for Rho associated with FAK) (5q31). Stig Bojesen, Arndt Borkhardt. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 1-4. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/GRAFID291.html HMGIY (High mobility group protein (non histone chromosomal) isoform I and Y) (6p21.3). Gilka J.F. Gattas, Florence Pedeutour. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 5-14. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/HMGIYID221.html PU.1 (11p11-22). Françoise Moreau-Gachelin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 15-19. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/SPI1ID269.html FGFR1 (Fibroblast Growth Factor Receptor 1) (8p12) - updated. Marie-Josèphe Pébusque. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 20-27. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/FGFR1113.html MLL (myeloid/lymphoid or mixed lineage leukemia) (11q23) - updated. Jay L Hess, Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 28-38. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/MLL.html PRDX1 (peroxiredoxin 1) (1p34.1) - updated. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 39-44. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2001; 5 (5) I URL : http://AtlasGeneticsOncology.org/Genes/PAGID266.html PTCH1 (9q22.3) - updated. Erika Lindström, Rune Toftgård. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 45-53. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PTCH100.html TFF2 (TreFoil Factor 2) (21q22.3). Catherine Tomasetto. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 54-58. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/TFF2ID264.html FGFR1OP (FGFR1 oncogene partner) (6q27). Marie-Joséphe Pébusque. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 59-63. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/FOPID140.html MST1R (Macrophage stimulating 1 receptor) (3p21.31). Debora Angeloni, Michael I. Lerman. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 64-73. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/RONID287.html FIM (fused in myeloproliferative disorders) (13q12) - updated. Marie-Joséphe Pébusque. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 74-79. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/ZNF198ID114.html Leukaemias t(1;3)(p36;q21) - updated. Pascale Cornillet-Lefebvre, Sylvie Daliphard, Stéphanie Struski. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 80-83. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0103.html del(17p) in non-Hodgkin's lymphoma (NHL). Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 84-86. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/del17pNHLID2083.html del(20q) in myeloid malignancies. Chrystèle Bilhou-Nabera. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 87-89. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/del20qID1040.html Juvenile Chronic Myelogenous Leukemia (JCML). Jay L. Hess. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 90-93. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2001; 5 (5) II URL : http://AtlasGeneticsOncology.org/Anomalies/JCMLID1099.html t(6;8)(q27;p12). Marie-Josèphe Pébusque. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 94-96. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t68ID1090.html t(8;13)(p12;q12) - updated. Marie-Josèphe Pébusque, and Nick CP Cross. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 97-100. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t813ID1094.html t(9;12)(q34;p13). Nyla A. Heerema. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 101-103. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t912ID1080.html 11q23 rearrangements in leukaemia - updated. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 104-114. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/11q23ID1030.html del(11q) in non-Hodgkin's lymphoma (NHL). Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 115-117. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/del11qNHLID2020.html del(7q) in non-Hodgkin's lymphoma (NHL). Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 118-119. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/del7qNHLID2082.html t(1;14)(p22;q32) in non Hodgkin's lymphoma (NHL). Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 120-121. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t114ID2044.html t(5;10)(q33;q21)E. Cristina Mecucci. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 122-123. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t510ID1166.html +3 or trisomy 3 in non Hodgkin's lymphoma (NHL). Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 124-126. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/tri3NHLID2008.html Atlas Genet Cytogenet Oncol Haematol 2001; 5 (5) III Y loss in leukemia. Daniel L. Van Dyke. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 127-130. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/YlossID1089.html Solid Tumours Nervous system: Astrocytic tumors. Anne Marie Capodano. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 131-138. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/AstrocytID5007.html Cancer Prone Diseases Beckwith-Wiedemann syndrome. Marcel Mannens. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 139-144. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/BeckwithWiedemannID10037.html Hereditary breast cancer. Kaija Holli. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 146-151. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/HeredBreastCanID10062.html Variegated aneuploidy related to premature centromere division (PCD). Alberto Plaja. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 152-156. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/VariegAneuplPCDID10069.html Hereditary Pancreatic Cancer. Ralph H. Hruban, Scott E. Kern. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 157-164. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/HeredPancrCanID10068.html Li-Fraumeni Syndrome. Jenny M Varley. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (1): 165-168. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/LiFraumeniID10011.html Deep Insights Case Reports Educational Items © Atlas of Genetics and Cytogenetics in Oncology and Haematology Atlas Genet Cytogenet Oncol Haematol 2001; 5 (5) IV X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (5) V Atlas of Genetics and Cytogenetics in Oncology and Haematology GRAF (GTPase activating protein for Rho associated with FAK) Identity Other KIAA0621 names OPHN1L Location 5q31 just centromeric of GRL DNA/RNA Description at least 24 exons Transcription two isoforms of 2277 bp (leukocytes) and 2442 bp (brain); transcripts of 4,4 and 9,5 kb Protein Description isoform A: 759 amino acids, 86 kDa; isoform B: 814 amino acids. 92 kDa Expression highly expressed in epithelial tissues i.e. pancreas islet beta-cells, testicles, prostate, mammary gland, GI glands, squamous layer of skin epithelium; highly expressed in nervous tissues including enteric ganglia; expressed in cardiomyocytes, erythropoiesis cells and liver Atlas Genet Cytogenet Oncol Haematol 2001; 1 -1- Localisation mainly cytoplasmatic Function interacts with FAK and RhoA both in vivo and in vitro; acts as GTPase activating protein (GAP) for the active GTP-bound RhoA.; negative regulator of RhoA Homology Oligophrenin-1, Beta-chimerin, BCR Mutations Germinal not known Somatic deletion of four bases (251-254, A in ATG=nt1) Insert 1158 GRAF-base 1144, 5' 1 TA GAG ACA GGA TTT CAT CAT GTT GGC CAG GTT GGT TTT GAA 42 TTC CTG ACC TCA AGT GAT CCA CCT GCC TCG GCC TCC CAA AGT 84 GGT GGG ATT TTG G 3' ......GRAF-base 1145 Insert 1299 GRAF-base 1285, 5' 1 TC ATC GTT GTC ATA TAA ATC GGC GAG GTA ATA TTC CAT CAG 42 GTA GAC ATA CG 3' ...GRAF-base 1286.Predicted STOP codon underlined. Insert 2002 GRAF-base 1988 5' 1 G GTT CAT GCG AGT TCA GCA AGC AGT TAC CAT GTC TAC GGC 41 ATG CCA GGA TAC TGT TGG GAA GGT AGT ATT CCG T 3' ...GRAF-base 1989 Implicated in Entity t(5;11)(q31;q23) / acute non lymphocytic leukemia --> MLL - GRAF Disease acute non lymphocytic leukemia and myelodysplastic syndrome with del(5q) Prognosis unknown; only a few cases unknown Cytogenetics del(5q) Hybrid/Mutated 5' MLL 3' GRAF Gene Abnormal MLL-GRAF Protein Oncogenesis basically unknown; a bi-allelic loss of GRAF has been documented in three cases of ANLL External links Nomenclature GDB ARHGAP26 Entrez_Gene ARHGAP26 23092 Rho
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