Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GAB1 (GRB2 associated binding protein 1)

Identity

Alias_namesDFNB26
deafness, autosomal recessive 26
Other alias
HGNC (Hugo) GAB1
LocusID (NCBI) 2549
Atlas_Id 40663
Location 4q31.21  [Link to chromosome band 4q31]
Location_base_pair Starts at 143336876 and ends at 143474565 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DDR2 (1q23.3) / GAB1 (4q31.21)MAPRE2 (18q12.1) / GAB1 (4q31.21)PTPRU (1p35.3) / GAB1 (4q31.21)
SYN1 (Xp11.23) / GAB1 (4q31.21)DDR2 1q23.3 / GAB1 4q31.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;4)(q23;q31) DDR2/GAB1
t(4;9)(q31;q34) GAB1/ABL1

External links

Nomenclature
HGNC (Hugo)GAB1   4066
Cards
Entrez_Gene (NCBI)GAB1  2549  GRB2 associated binding protein 1
AliasesDFNB26
GeneCards (Weizmann)GAB1
Ensembl hg19 (Hinxton)ENSG00000109458 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109458 [Gene_View]  ENSG00000109458 [Sequence]  chr4:143336876-143474565 [Contig_View]  GAB1 [Vega]
ICGC DataPortalENSG00000109458
TCGA cBioPortalGAB1
AceView (NCBI)GAB1
Genatlas (Paris)GAB1
WikiGenes2549
SOURCE (Princeton)GAB1
Genetics Home Reference (NIH)GAB1
Genomic and cartography
GoldenPath hg38 (UCSC)GAB1  -     chr4:143336876-143474565 +  4q31.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GAB1  -     4q31.21   [Description]    (hg19-Feb_2009)
GoldenPathGAB1 - 4q31.21 [CytoView hg19]  GAB1 - 4q31.21 [CytoView hg38]
Genome Data Viewer NCBIGAB1 [Mapview hg19]  
OMIM604439   605428   
Gene and transcription
Genbank (Entrez)AK022142 AK074381 AK289767 AK295684 AK314635
RefSeq transcript (Entrez)NM_002039 NM_207123
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GAB1
Alternative Splicing GalleryENSG00000109458
Gene ExpressionGAB1 [ NCBI-GEO ]   GAB1 [ EBI - ARRAY_EXPRESS ]   GAB1 [ SEEK ]   GAB1 [ MEM ]
Gene Expression Viewer (FireBrowse)GAB1 [ Firebrowse - Broad ]
GenevisibleExpression of GAB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2549
GTEX Portal (Tissue expression)GAB1
Human Protein AtlasENSG00000109458-GAB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13480   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13480  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13480
Splice isoforms : SwissVarQ13480
PhosPhoSitePlusQ13480
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)GAB1
DMDM Disease mutations2549
PDB (RSDB)4QSY   
PDB Europe4QSY   
PDB (PDBSum)4QSY   
PDB (IMB)4QSY   
Structural Biology KnowledgeBase4QSY   
SCOP (Structural Classification of Proteins)4QSY   
CATH (Classification of proteins structures)4QSY   
SuperfamilyQ13480
Human Protein Atlas [tissue]ENSG00000109458-GAB1 [tissue]
Peptide AtlasQ13480
HPRD05116
IPIIPI00031068   IPI00410383   IPI00152669   IPI00964952   IPI00964045   IPI00964645   IPI00967362   IPI00965527   IPI00964336   
Protein Interaction databases
DIP (DOE-UCLA)Q13480
IntAct (EBI)Q13480
FunCoupENSG00000109458
BioGRIDGAB1
STRING (EMBL)GAB1
ZODIACGAB1
Ontologies - Pathways
QuickGOQ13480
Ontology : AmiGOangiogenesis  protein binding  cytosol  cell-cell junction  epidermal growth factor receptor signaling pathway  axon guidance  insulin receptor signaling pathway  positive regulation of phosphatidylinositol 3-kinase signaling  actin cytoskeleton reorganization  response to hepatocyte growth factor  vascular endothelial growth factor signaling pathway  positive regulation of cell migration by vascular endothelial growth factor signaling pathway  ERBB2 signaling pathway  positive regulation of angiogenesis  positive regulation of protein kinase B signaling  endothelial cell chemotaxis to vascular endothelial growth factor  
Ontology : EGO-EBIangiogenesis  protein binding  cytosol  cell-cell junction  epidermal growth factor receptor signaling pathway  axon guidance  insulin receptor signaling pathway  positive regulation of phosphatidylinositol 3-kinase signaling  actin cytoskeleton reorganization  response to hepatocyte growth factor  vascular endothelial growth factor signaling pathway  positive regulation of cell migration by vascular endothelial growth factor signaling pathway  ERBB2 signaling pathway  positive regulation of angiogenesis  positive regulation of protein kinase B signaling  endothelial cell chemotaxis to vascular endothelial growth factor  
Pathways : KEGGErbB signaling pathway    Ras signaling pathway    Neurotrophin signaling pathway    Bacterial invasion of epithelial cells    Proteoglycans in cancer    Renal cell carcinoma   
NDEx NetworkGAB1
Atlas of Cancer Signalling NetworkGAB1
Wikipedia pathwaysGAB1
Orthology - Evolution
OrthoDB2549
GeneTree (enSembl)ENSG00000109458
Phylogenetic Trees/Animal Genes : TreeFamGAB1
HOGENOMQ13480
Homologs : HomoloGeneGAB1
Homology/Alignments : Family Browser (UCSC)GAB1
Gene fusions - Rearrangements
Fusion : MitelmanDDR2/GAB1 [1q23.3/4q31.21]  
Fusion PortalDDR2 1q23.3 GAB1 4q31.21 BRCA
Fusion : QuiverGAB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGAB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAB1
dbVarGAB1
ClinVarGAB1
1000_GenomesGAB1 
Exome Variant ServerGAB1
GNOMAD BrowserENSG00000109458
Varsome BrowserGAB1
Genetic variants : HAPMAP2549
Genomic Variants (DGV)GAB1 [DGVbeta]
DECIPHERGAB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGAB1 
Mutations
ICGC Data PortalGAB1 
TCGA Data PortalGAB1 
Broad Tumor PortalGAB1
OASIS PortalGAB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGAB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGAB1
Mutations and Diseases : HGMDGAB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutaselect GAB1
DgiDB (Drug Gene Interaction Database)GAB1
DoCM (Curated mutations)GAB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAB1 (select a term)
intoGenGAB1
Cancer3DGAB1 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604439    605428   
Orphanet
DisGeNETGAB1
MedgenGAB1
Genetic Testing Registry GAB1
NextProtQ13480 [Medical]
TSGene2549
GENETestsGAB1
Open Targets GeneticsENSG00000109458  [validation]
snp3D : Map Gene to Disease2549
BioCentury BCIQGAB1
ClinGenGAB1
Clinical trials, drugs, therapy
Protein Interactions : CTD2549
Pharm GKB GenePA28477
Clinical trialGAB1
Miscellaneous
canSAR (ICR)GAB1 (select the gene name)
HarmonizomeGAB1
DataMed IndexGAB1
Probes
Litterature
PubMed180 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAB1
EVEXGAB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 11 19:49:44 CEST 2020
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