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SH3BP5L (SH3 binding domain protein 5 like)

Identity

Alias_symbol (synonym)KIAA1720
Other alias-
HGNC (Hugo) SH3BP5L
LocusID (NCBI) 80851
Atlas_Id 73204
Location 1q44  [Link to chromosome band 1q44]
Location_base_pair Starts at 248810446 and ends at 248825366 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KAT6B (10q22.2) / SH3BP5L (1q44)

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)SH3BP5L   29360
Cards
Entrez_Gene (NCBI)SH3BP5L  80851  SH3 binding domain protein 5 like
Aliases
GeneCards (Weizmann)SH3BP5L
Ensembl hg19 (Hinxton)ENSG00000175137 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175137 [Gene_View]  chr1:248810446-248825366 [Contig_View]  SH3BP5L [Vega]
ICGC DataPortalENSG00000175137
TCGA cBioPortalSH3BP5L
AceView (NCBI)SH3BP5L
Genatlas (Paris)SH3BP5L
WikiGenes80851
SOURCE (Princeton)SH3BP5L
Genetics Home Reference (NIH)SH3BP5L
Genomic and cartography
GoldenPath hg38 (UCSC)SH3BP5L  -     chr1:248810446-248825366 -  1q44   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3BP5L  -     1q44   [Description]    (hg19-Feb_2009)
EnsemblSH3BP5L - 1q44 [CytoView hg19]  SH3BP5L - 1q44 [CytoView hg38]
Mapping of homologs : NCBISH3BP5L [Mapview hg19]  SH3BP5L [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB051507 AK056345 AK056382 AK091164 AK125138
RefSeq transcript (Entrez)NM_001322462 NM_001322463 NM_001322464 NM_030645
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH3BP5L
Cluster EST : UnigeneHs.298573 [ NCBI ]
CGAP (NCI)Hs.298573
Alternative Splicing GalleryENSG00000175137
Gene ExpressionSH3BP5L [ NCBI-GEO ]   SH3BP5L [ EBI - ARRAY_EXPRESS ]   SH3BP5L [ SEEK ]   SH3BP5L [ MEM ]
Gene Expression Viewer (FireBrowse)SH3BP5L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80851
GTEX Portal (Tissue expression)SH3BP5L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L8J4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L8J4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L8J4
Splice isoforms : SwissVarQ7L8J4
PhosPhoSitePlusQ7L8J4
Domains : Interpro (EBI)SH3BP5   
Domain families : Pfam (Sanger)SH3BP5 (PF05276)   
Domain families : Pfam (NCBI)pfam05276   
Conserved Domain (NCBI)SH3BP5L
DMDM Disease mutations80851
Blocks (Seattle)SH3BP5L
SuperfamilyQ7L8J4
Human Protein AtlasENSG00000175137
Peptide AtlasQ7L8J4
HPRD13887
IPIIPI00028359   IPI00926081   
Protein Interaction databases
DIP (DOE-UCLA)Q7L8J4
IntAct (EBI)Q7L8J4
FunCoupENSG00000175137
BioGRIDSH3BP5L
STRING (EMBL)SH3BP5L
ZODIACSH3BP5L
Ontologies - Pathways
QuickGOQ7L8J4
Ontology : AmiGOprotein kinase inhibitor activity  cytoplasm  SH3 domain binding  intracellular signal transduction  negative regulation of protein tyrosine kinase activity  
Ontology : EGO-EBIprotein kinase inhibitor activity  cytoplasm  SH3 domain binding  intracellular signal transduction  negative regulation of protein tyrosine kinase activity  
NDEx NetworkSH3BP5L
Atlas of Cancer Signalling NetworkSH3BP5L
Wikipedia pathwaysSH3BP5L
Orthology - Evolution
OrthoDB80851
GeneTree (enSembl)ENSG00000175137
Phylogenetic Trees/Animal Genes : TreeFamSH3BP5L
HOVERGENQ7L8J4
HOGENOMQ7L8J4
Homologs : HomoloGeneSH3BP5L
Homology/Alignments : Family Browser (UCSC)SH3BP5L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3BP5L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3BP5L
dbVarSH3BP5L
ClinVarSH3BP5L
1000_GenomesSH3BP5L 
Exome Variant ServerSH3BP5L
ExAC (Exome Aggregation Consortium)SH3BP5L (select the gene name)
Genetic variants : HAPMAP80851
Genomic Variants (DGV)SH3BP5L [DGVbeta]
DECIPHERSH3BP5L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH3BP5L 
Mutations
ICGC Data PortalSH3BP5L 
TCGA Data PortalSH3BP5L 
Broad Tumor PortalSH3BP5L
OASIS PortalSH3BP5L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3BP5L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3BP5L
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 SH3BP5L
DgiDB (Drug Gene Interaction Database)SH3BP5L
DoCM (Curated mutations)SH3BP5L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3BP5L (select a term)
intoGenSH3BP5L
Cancer3DSH3BP5L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenSH3BP5L
Genetic Testing Registry SH3BP5L
NextProtQ7L8J4 [Medical]
TSGene80851
GENETestsSH3BP5L
Target ValidationSH3BP5L
Huge Navigator SH3BP5L [HugePedia]
snp3D : Map Gene to Disease80851
BioCentury BCIQSH3BP5L
ClinGenSH3BP5L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80851
Chemical/Pharm GKB GenePA142670923
Clinical trialSH3BP5L
Miscellaneous
canSAR (ICR)SH3BP5L (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3BP5L
EVEXSH3BP5L
GoPubMedSH3BP5L
iHOPSH3BP5L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:37:44 CEST 2017

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