Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SORBS1 (sorbin and SH3 domain containing 1)

Identity

Alias_namesSH3D5
SH3-domain protein 5 (ponsin)
Alias_symbol (synonym)FLJ12406
CAP
sh3p12
ponsin
KIAA1296
Other aliasFLAF2
R85FL
SH3P12
SORB1
HGNC (Hugo) SORBS1
LocusID (NCBI) 10580
Atlas_Id 74071
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 95311773 and ends at 95441180 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AKIRIN1 (1p34.3) / SORBS1 (10q24.1)GNG4 (1q42.3) / SORBS1 (10q24.1)LLGL2 (17q25.1) / SORBS1 (10q24.1)
MKI67 (10q26.2) / SORBS1 (10q24.1)MSC (8q13.3) / SORBS1 (10q24.1)PDLIM1 (10q23.33) / SORBS1 (10q24.1)
PRICKLE1 (12q12) / SORBS1 (10q24.1)SORBS1 (10q24.1) / IMMP2L (7q31.1)SORBS1 (10q24.1) / MIAT (22q12.1)
SORBS1 (10q24.1) / SORBS1 (10q24.1)SORBS1 (10q24.1) / SPOP (17q21.33)

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)SORBS1   14565
Cards
Entrez_Gene (NCBI)SORBS1  10580  sorbin and SH3 domain containing 1
AliasesCAP; FLAF2; R85FL; SH3D5; 
SH3P12; SORB1
GeneCards (Weizmann)SORBS1
Ensembl hg19 (Hinxton)ENSG00000095637 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000095637 [Gene_View]  chr10:95311773-95441180 [Contig_View]  SORBS1 [Vega]
ICGC DataPortalENSG00000095637
TCGA cBioPortalSORBS1
AceView (NCBI)SORBS1
Genatlas (Paris)SORBS1
WikiGenes10580
SOURCE (Princeton)SORBS1
Genetics Home Reference (NIH)SORBS1
Genomic and cartography
GoldenPath hg38 (UCSC)SORBS1  -     chr10:95311773-95441180 -  10q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SORBS1  -     10q24.1   [Description]    (hg19-Feb_2009)
EnsemblSORBS1 - 10q24.1 [CytoView hg19]  SORBS1 - 10q24.1 [CytoView hg38]
Mapping of homologs : NCBISORBS1 [Mapview hg19]  SORBS1 [Mapview hg38]
OMIM605264   
Gene and transcription
Genbank (Entrez)AB037717 AF136380 AF136381 AF330623 AF330624
RefSeq transcript (Entrez)NM_001034954 NM_001034955 NM_001034956 NM_001034957 NM_001290294 NM_001290295 NM_001290296 NM_001290297 NM_001290298 NM_006434 NM_015385 NM_024991
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SORBS1
Cluster EST : UnigeneHs.38621 [ NCBI ]
CGAP (NCI)Hs.38621
Alternative Splicing GalleryENSG00000095637
Gene ExpressionSORBS1 [ NCBI-GEO ]   SORBS1 [ EBI - ARRAY_EXPRESS ]   SORBS1 [ SEEK ]   SORBS1 [ MEM ]
Gene Expression Viewer (FireBrowse)SORBS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10580
GTEX Portal (Tissue expression)SORBS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BX66   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BX66  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BX66
Splice isoforms : SwissVarQ9BX66
PhosPhoSitePlusQ9BX66
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)    SOHO (PS50831)   
Domains : Interpro (EBI)CAP/ponsin    SH3_2    SH3_domain    SoHo_dom   
Domain families : Pfam (Sanger)SH3_1 (PF00018)    SH3_2 (PF07653)    SH3_9 (PF14604)    Sorb (PF02208)   
Domain families : Pfam (NCBI)pfam00018    pfam07653    pfam14604    pfam02208   
Domain families : Smart (EMBL)SH3 (SM00326)  Sorb (SM00459)  
Conserved Domain (NCBI)SORBS1
DMDM Disease mutations10580
Blocks (Seattle)SORBS1
PDB (SRS)2DL3    2ECZ    2LJ0    2LJ1    2MOX    2O2W    2O31    2O9S    2O9V    4LN2    4LNP   
PDB (PDBSum)2DL3    2ECZ    2LJ0    2LJ1    2MOX    2O2W    2O31    2O9S    2O9V    4LN2    4LNP   
PDB (IMB)2DL3    2ECZ    2LJ0    2LJ1    2MOX    2O2W    2O31    2O9S    2O9V    4LN2    4LNP   
PDB (RSDB)2DL3    2ECZ    2LJ0    2LJ1    2MOX    2O2W    2O31    2O9S    2O9V    4LN2    4LNP   
Structural Biology KnowledgeBase2DL3    2ECZ    2LJ0    2LJ1    2MOX    2O2W    2O31    2O9S    2O9V    4LN2    4LNP   
SCOP (Structural Classification of Proteins)2DL3    2ECZ    2LJ0    2LJ1    2MOX    2O2W    2O31    2O9S    2O9V    4LN2    4LNP   
CATH (Classification of proteins structures)2DL3    2ECZ    2LJ0    2LJ1    2MOX    2O2W    2O31    2O9S    2O9V    4LN2    4LNP   
SuperfamilyQ9BX66
Human Protein AtlasENSG00000095637
Peptide AtlasQ9BX66
HPRD05587
IPIIPI00186452   IPI00807389   IPI01018230   IPI00010555   IPI00010554   IPI00454950   IPI00454951   IPI00334908   IPI00383430   IPI00064591   IPI00002491   IPI00654848   IPI00426075   IPI00306791   IPI00979864   
Protein Interaction databases
DIP (DOE-UCLA)Q9BX66
IntAct (EBI)Q9BX66
FunCoupENSG00000095637
BioGRIDSORBS1
STRING (EMBL)SORBS1
ZODIACSORBS1
Ontologies - Pathways
QuickGOQ9BX66
Ontology : AmiGOstress fiber  actin binding  SH3/SH2 adaptor activity  SH3/SH2 adaptor activity  insulin receptor binding  protein binding  nucleus  centrosome  cytosol  cytosol  plasma membrane  insulin receptor complex  cell-cell adherens junction  zonula adherens  cell-substrate adherens junction  focal adhesion  muscle contraction  cell-matrix adhesion  cytoskeletal protein binding  insulin receptor signaling pathway  positive regulation of signal transduction  glucose transport  nuclear matrix  cellular response to insulin stimulus  stress fiber assembly  membrane raft  positive regulation of glycogen biosynthetic process  positive regulation of glucose import  positive regulation of lipid biosynthetic process  focal adhesion assembly  positive regulation of establishment of protein localization to plasma membrane  
Ontology : EGO-EBIstress fiber  actin binding  SH3/SH2 adaptor activity  SH3/SH2 adaptor activity  insulin receptor binding  protein binding  nucleus  centrosome  cytosol  cytosol  plasma membrane  insulin receptor complex  cell-cell adherens junction  zonula adherens  cell-substrate adherens junction  focal adhesion  muscle contraction  cell-matrix adhesion  cytoskeletal protein binding  insulin receptor signaling pathway  positive regulation of signal transduction  glucose transport  nuclear matrix  cellular response to insulin stimulus  stress fiber assembly  membrane raft  positive regulation of glycogen biosynthetic process  positive regulation of glucose import  positive regulation of lipid biosynthetic process  focal adhesion assembly  positive regulation of establishment of protein localization to plasma membrane  
Pathways : KEGGPPAR signaling pathway    Adherens junction    Insulin signaling pathway   
NDEx NetworkSORBS1
Atlas of Cancer Signalling NetworkSORBS1
Wikipedia pathwaysSORBS1
Orthology - Evolution
OrthoDB10580
GeneTree (enSembl)ENSG00000095637
Phylogenetic Trees/Animal Genes : TreeFamSORBS1
HOVERGENQ9BX66
HOGENOMQ9BX66
Homologs : HomoloGeneSORBS1
Homology/Alignments : Family Browser (UCSC)SORBS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSORBS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SORBS1
dbVarSORBS1
ClinVarSORBS1
1000_GenomesSORBS1 
Exome Variant ServerSORBS1
ExAC (Exome Aggregation Consortium)SORBS1 (select the gene name)
Genetic variants : HAPMAP10580
Genomic Variants (DGV)SORBS1 [DGVbeta]
DECIPHERSORBS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSORBS1 
Mutations
ICGC Data PortalSORBS1 
TCGA Data PortalSORBS1 
Broad Tumor PortalSORBS1
OASIS PortalSORBS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSORBS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSORBS1
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 SORBS1
DgiDB (Drug Gene Interaction Database)SORBS1
DoCM (Curated mutations)SORBS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SORBS1 (select a term)
intoGenSORBS1
Cancer3DSORBS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605264   
Orphanet
MedgenSORBS1
Genetic Testing Registry SORBS1
NextProtQ9BX66 [Medical]
TSGene10580
GENETestsSORBS1
Target ValidationSORBS1
Huge Navigator SORBS1 [HugePedia]
snp3D : Map Gene to Disease10580
BioCentury BCIQSORBS1
ClinGenSORBS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10580
Chemical/Pharm GKB GenePA37899
Clinical trialSORBS1
Miscellaneous
canSAR (ICR)SORBS1 (select the gene name)
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSORBS1
EVEXSORBS1
GoPubMedSORBS1
iHOPSORBS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:40:06 CEST 2017

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