Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SH3D19 (SH3 domain containing 19)

Identity

Alias_symbol (synonym)DKFZp434D0215
EVE1
EBP
Kryn
SH3P19
Other aliasEve-1
HGNC (Hugo) SH3D19
LocusID (NCBI) 152503
Atlas_Id 53045
Location 4q31.3  [Link to chromosome band 4q31]
Location_base_pair Starts at 151120281 and ends at 151228030 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)
ACVRL1 (12q13.13) / SH3D19 (4q31.3)LRBA (4q31.3) / SH3D19 (4q31.3)RUNX1 (21q22.12) / SH3D19 (4q31.3)
SH3D19 (4q31.3) / ACSL4 (Xq23)SH3D19 (4q31.3) / KIAA1217 (10p12.2)LRBA 4q31.3 / SH3D19 4q31.3

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(4;21)(q31;q22) RUNX1/SH3D19
t(4;4)(q31;q31) LRBA/SH3D19

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  LRBA/SH3D19 (4q31)

External links

Nomenclature
HGNC (Hugo)SH3D19   30418
Cards
Entrez_Gene (NCBI)SH3D19  152503  SH3 domain containing 19
AliasesEBP; EVE1; Eve-1; Kryn; 
SH3P19
GeneCards (Weizmann)SH3D19
Ensembl hg19 (Hinxton)ENSG00000109686 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109686 [Gene_View]  ENSG00000109686 [Sequence]  chr4:151120281-151228030 [Contig_View]  SH3D19 [Vega]
ICGC DataPortalENSG00000109686
TCGA cBioPortalSH3D19
AceView (NCBI)SH3D19
Genatlas (Paris)SH3D19
WikiGenes152503
SOURCE (Princeton)SH3D19
Genetics Home Reference (NIH)SH3D19
Genomic and cartography
GoldenPath hg38 (UCSC)SH3D19  -     chr4:151120281-151228030 -  4q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3D19  -     4q31.3   [Description]    (hg19-Feb_2009)
EnsemblSH3D19 - 4q31.3 [CytoView hg19]  SH3D19 - 4q31.3 [CytoView hg38]
Mapping of homologs : NCBISH3D19 [Mapview hg19]  SH3D19 [Mapview hg38]
OMIM608674   
Gene and transcription
Genbank (Entrez)AK092528 AK128493 AK291025 AK294476 AL133047
RefSeq transcript (Entrez)NM_001009555 NM_001128923 NM_001128924 NM_001243349
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH3D19
Cluster EST : UnigeneHs.744983 [ NCBI ]
CGAP (NCI)Hs.744983
Alternative Splicing GalleryENSG00000109686
Gene ExpressionSH3D19 [ NCBI-GEO ]   SH3D19 [ EBI - ARRAY_EXPRESS ]   SH3D19 [ SEEK ]   SH3D19 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3D19 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)152503
GTEX Portal (Tissue expression)SH3D19
Human Protein AtlasENSG00000109686-SH3D19 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5HYK7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5HYK7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5HYK7
Splice isoforms : SwissVarQ5HYK7
PhosPhoSitePlusQ5HYK7
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)Eve1_SH3_1    Eve1_SH3_3    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)SH3_1 (PF00018)    SH3_2 (PF07653)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00018    pfam07653    pfam14604   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)SH3D19
DMDM Disease mutations152503
Blocks (Seattle)SH3D19
SuperfamilyQ5HYK7
Human Protein Atlas [tissue]ENSG00000109686-SH3D19 [tissue]
Peptide AtlasQ5HYK7
HPRD16364
IPIIPI00885020   IPI00885212   IPI00884903   IPI00884923   IPI00472155   
Protein Interaction databases
DIP (DOE-UCLA)Q5HYK7
IntAct (EBI)Q5HYK7
FunCoupENSG00000109686
BioGRIDSH3D19
STRING (EMBL)SH3D19
ZODIACSH3D19
Ontologies - Pathways
QuickGOQ5HYK7
Ontology : AmiGOprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  cytoskeleton organization  regulation of cell morphogenesis  positive regulation of membrane protein ectodomain proteolysis  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  cytoskeleton organization  regulation of cell morphogenesis  positive regulation of membrane protein ectodomain proteolysis  
NDEx NetworkSH3D19
Atlas of Cancer Signalling NetworkSH3D19
Wikipedia pathwaysSH3D19
Orthology - Evolution
OrthoDB152503
GeneTree (enSembl)ENSG00000109686
Phylogenetic Trees/Animal Genes : TreeFamSH3D19
HOVERGENQ5HYK7
HOGENOMQ5HYK7
Homologs : HomoloGeneSH3D19
Homology/Alignments : Family Browser (UCSC)SH3D19
Gene fusions - Rearrangements
Fusion : MitelmanLRBA/SH3D19 [4q31.3/4q31.3]  [t(4;4)(q31;q31)]  
Fusion : MitelmanRUNX1/SH3D19 [21q22.12/4q31.3]  [t(4;21)(q31;q22)]  
Fusion PortalLRBA 4q31.3 SH3D19 4q31.3 BLCA HNSC LUSC
Fusion : QuiverSH3D19
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3D19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3D19
dbVarSH3D19
ClinVarSH3D19
1000_GenomesSH3D19 
Exome Variant ServerSH3D19
ExAC (Exome Aggregation Consortium)ENSG00000109686
GNOMAD BrowserENSG00000109686
Varsome BrowserSH3D19
Genetic variants : HAPMAP152503
Genomic Variants (DGV)SH3D19 [DGVbeta]
DECIPHERSH3D19 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH3D19 
Mutations
ICGC Data PortalSH3D19 
TCGA Data PortalSH3D19 
Broad Tumor PortalSH3D19
OASIS PortalSH3D19 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3D19  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3D19
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 SH3D19
DgiDB (Drug Gene Interaction Database)SH3D19
DoCM (Curated mutations)SH3D19 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3D19 (select a term)
intoGenSH3D19
Cancer3DSH3D19(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608674   
Orphanet
DisGeNETSH3D19
MedgenSH3D19
Genetic Testing Registry SH3D19
NextProtQ5HYK7 [Medical]
TSGene152503
GENETestsSH3D19
Target ValidationSH3D19
Huge Navigator SH3D19 [HugePedia]
snp3D : Map Gene to Disease152503
BioCentury BCIQSH3D19
ClinGenSH3D19
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD152503
Chemical/Pharm GKB GenePA162403244
Clinical trialSH3D19
Miscellaneous
canSAR (ICR)SH3D19 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3D19
EVEXSH3D19
GoPubMedSH3D19
iHOPSH3D19
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 : Tue Nov 6 11:38:52 CET 2018
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