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SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1)

Identity

Alias_symbol (synonym)KIAA1304
ARHGAP13
Other aliasNMTC2
HGNC (Hugo) SRGAP1
LocusID (NCBI) 57522
Atlas_Id 43502
Location 12q14.2  [Link to chromosome band 12q14]
Location_base_pair Starts at 63844753 and ends at 64147863 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PPM1H (12q14.1) / SRGAP1 (12q14.2)SRGAP1 (12q14.2) / DOPEY1 (6q14.1)SRGAP1 (12q14.2) / GAB2 (11q14.1)
SRGAP1 (12q14.2) / LEFTY2 (1q42.12)SRGAP1 (12q14.2) / PPM1H (12q14.1)SRGAP1 (12q14.2) / PWP1 (12q23.3)
SRGAP1 (12q14.2) / TMEM5 (12q14.2)PPM1H 12q14.1 / SRGAP1 12q14.2SRGAP1 12q14.2 / GAB2 11q14.1
SRGAP1 12q14.2 / PWP1 12q23.3SRGAP1 12q14.2 / TMEM5 12q14.2

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

 


External links

Nomenclature
HGNC (Hugo)SRGAP1   17382
Cards
Entrez_Gene (NCBI)SRGAP1  57522  SLIT-ROBO Rho GTPase activating protein 1
AliasesARHGAP13; NMTC2
GeneCards (Weizmann)SRGAP1
Ensembl hg19 (Hinxton)ENSG00000196935 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196935 [Gene_View]  chr12:63844753-64147863 [Contig_View]  SRGAP1 [Vega]
ICGC DataPortalENSG00000196935
TCGA cBioPortalSRGAP1
AceView (NCBI)SRGAP1
Genatlas (Paris)SRGAP1
WikiGenes57522
SOURCE (Princeton)SRGAP1
Genetics Home Reference (NIH)SRGAP1
Genomic and cartography
GoldenPath hg38 (UCSC)SRGAP1  -     chr12:63844753-64147863 +  12q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SRGAP1  -     12q14.2   [Description]    (hg19-Feb_2009)
EnsemblSRGAP1 - 12q14.2 [CytoView hg19]  SRGAP1 - 12q14.2 [CytoView hg38]
Mapping of homologs : NCBISRGAP1 [Mapview hg19]  SRGAP1 [Mapview hg38]
OMIM188470   606523   
Gene and transcription
Genbank (Entrez)AB037725 AI216583 AK023899 AK025819 AK123684
RefSeq transcript (Entrez)NM_001346201 NM_020762
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SRGAP1
Cluster EST : UnigeneHs.593803 [ NCBI ]
CGAP (NCI)Hs.593803
Alternative Splicing GalleryENSG00000196935
Gene ExpressionSRGAP1 [ NCBI-GEO ]   SRGAP1 [ EBI - ARRAY_EXPRESS ]   SRGAP1 [ SEEK ]   SRGAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)SRGAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57522
GTEX Portal (Tissue expression)SRGAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6B7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6B7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6B7
Splice isoforms : SwissVarQ7Z6B7
PhosPhoSitePlusQ7Z6B7
Domaine pattern : Prosite (Expaxy)F_BAR (PS51741)    RHOGAP (PS50238)    SH3 (PS50002)   
Domains : Interpro (EBI)F_BAR    FCH_dom    Rho_GTPase_activation_prot    RhoGAP_dom    SH3_domain   
Domain families : Pfam (Sanger)FCH (PF00611)    RhoGAP (PF00620)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00611    pfam00620    pfam00018   
Domain families : Smart (EMBL)FCH (SM00055)  RhoGAP (SM00324)  SH3 (SM00326)  
Conserved Domain (NCBI)SRGAP1
DMDM Disease mutations57522
Blocks (Seattle)SRGAP1
SuperfamilyQ7Z6B7
Human Protein AtlasENSG00000196935
Peptide AtlasQ7Z6B7
HPRD09406
IPIIPI00376259   IPI00414827   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6B7
IntAct (EBI)Q7Z6B7
FunCoupENSG00000196935
BioGRIDSRGAP1
STRING (EMBL)SRGAP1
ZODIACSRGAP1
Ontologies - Pathways
QuickGOQ7Z6B7
Ontology : AmiGOGTPase activator activity  GTPase activator activity  protein binding  cytoplasm  cytosol  signal transduction  negative regulation of cell migration  positive regulation of GTPase activity  Rac GTPase binding  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  protein binding  cytoplasm  cytosol  signal transduction  negative regulation of cell migration  positive regulation of GTPase activity  Rac GTPase binding  regulation of small GTPase mediated signal transduction  
Pathways : KEGGAxon guidance   
NDEx NetworkSRGAP1
Atlas of Cancer Signalling NetworkSRGAP1
Wikipedia pathwaysSRGAP1
Orthology - Evolution
OrthoDB57522
GeneTree (enSembl)ENSG00000196935
Phylogenetic Trees/Animal Genes : TreeFamSRGAP1
HOVERGENQ7Z6B7
HOGENOMQ7Z6B7
Homologs : HomoloGeneSRGAP1
Homology/Alignments : Family Browser (UCSC)SRGAP1
Gene fusions - Rearrangements
Fusion : MitelmanPPM1H/SRGAP1 [12q14.1/12q14.2]  [t(12;12)(q14;q14)]  
Fusion : MitelmanSRGAP1/GAB2 [12q14.2/11q14.1]  [t(11;12)(q14;q14)]  
Fusion : MitelmanSRGAP1/PWP1 [12q14.2/12q23.3]  [t(12;12)(q14;q23)]  
Fusion : MitelmanSRGAP1/TMEM5 [12q14.2/12q14.2]  [t(12;12)(q14;q14)]  
Fusion: TCGAPPM1H 12q14.1 SRGAP1 12q14.2 BRCA
Fusion: TCGASRGAP1 12q14.2 GAB2 11q14.1 BRCA
Fusion: TCGASRGAP1 12q14.2 PWP1 12q23.3 LUAD
Fusion: TCGASRGAP1 12q14.2 TMEM5 12q14.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSRGAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SRGAP1
dbVarSRGAP1
ClinVarSRGAP1
1000_GenomesSRGAP1 
Exome Variant ServerSRGAP1
ExAC (Exome Aggregation Consortium)SRGAP1 (select the gene name)
Genetic variants : HAPMAP57522
Genomic Variants (DGV)SRGAP1 [DGVbeta]
DECIPHERSRGAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSRGAP1 
Mutations
ICGC Data PortalSRGAP1 
TCGA Data PortalSRGAP1 
Broad Tumor PortalSRGAP1
OASIS PortalSRGAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSRGAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSRGAP1
intOGen PortalSRGAP1
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
BioMutasearch SRGAP1
DgiDB (Drug Gene Interaction Database)SRGAP1
DoCM (Curated mutations)SRGAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SRGAP1 (select a term)
intoGenSRGAP1
Cancer3DSRGAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM188470    606523   
Orphanet
MedgenSRGAP1
Genetic Testing Registry SRGAP1
NextProtQ7Z6B7 [Medical]
TSGene57522
GENETestsSRGAP1
Target ValidationSRGAP1
Huge Navigator SRGAP1 [HugePedia]
snp3D : Map Gene to Disease57522
BioCentury BCIQSRGAP1
ClinGenSRGAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57522
Chemical/Pharm GKB GenePA134887956
Clinical trialSRGAP1
Miscellaneous
canSAR (ICR)SRGAP1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSRGAP1
EVEXSRGAP1
GoPubMedSRGAP1
iHOPSRGAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:57:23 CEST 2017

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