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SH3D19 (SH3 domain containing 19)

Identity

Alias (NCBI)EBP
EVE1
Eve-1
Kryn
SH3P19
HGNC (Hugo) SH3D19
HGNC Alias symbDKFZp434D0215
EVE1
EBP
Kryn
SH3P19
Eve-1
HGNC Alias nameEEN binding protein
LocusID (NCBI) 152503
Atlas_Id 53045
Location 4q31.3  [Link to chromosome band 4q31]
Location_base_pair Starts at 151120281 and ends at 151227909 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

External links

 

Nomenclature
HGNC (Hugo)SH3D19   30418
Cards
Entrez_Gene (NCBI)SH3D19    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]  chr4:151120281-151227909 [Contig_View]  SH3D19 [Vega]
ICGC DataPortalENSG00000109686
TCGA cBioPortalSH3D19
AceView (NCBI)SH3D19
Genatlas (Paris)SH3D19
SOURCE (Princeton)SH3D19
Genetics Home Reference (NIH)SH3D19
Genomic and cartography
GoldenPath hg38 (UCSC)SH3D19  -     chr4:151120281-151227909 -  4q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3D19  -     4q31.3   [Description]    (hg19-Feb_2009)
GoldenPathSH3D19 - 4q31.3 [CytoView hg19]  SH3D19 - 4q31.3 [CytoView hg38]
ImmunoBaseENSG00000109686
Genome Data Viewer NCBISH3D19 [Mapview hg19]  
OMIM608674   
Gene and transcription
Genbank (Entrez)AK092528 AK128493 AK291025 AK294476 AL133047
RefSeq transcript (Entrez)NM_001009555 NM_001128923 NM_001128924 NM_001243349 NM_001378121 NM_001378122 NM_001378123 NM_001378124 NM_001378126 NM_001378127 NM_001378128 NM_001378129 NM_001378130 NM_001378131
Consensus coding sequences : CCDS (NCBI)SH3D19
Gene ExpressionSH3D19 [ NCBI-GEO ]   SH3D19 [ EBI - ARRAY_EXPRESS ]   SH3D19 [ SEEK ]   SH3D19 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3D19 [ Firebrowse - Broad ]
GenevisibleExpression of SH3D19 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
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
SuperfamilyQ5HYK7
AlphaFold pdb e-kbQ5HYK7   
Human Protein Atlas [tissue]ENSG00000109686-SH3D19 [tissue]
HPRD16364
Protein Interaction databases
DIP (DOE-UCLA)Q5HYK7
IntAct (EBI)Q5HYK7
BioGRIDSH3D19
STRING (EMBL)SH3D19
ZODIACSH3D19
Ontologies - Pathways
QuickGOQ5HYK7
Ontology : AmiGOprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  post-Golgi vesicle-mediated transport  cytoskeleton organization  regulation of cell morphogenesis  positive regulation of membrane protein ectodomain proteolysis  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  post-Golgi vesicle-mediated transport  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
Homologs : HomoloGeneSH3D19
Homology/Alignments : Family Browser (UCSC)SH3D19
Gene fusions - Rearrangements
Fusion : MitelmanLRBA/SH3D19 [4q31.3/4q31.3]  
Fusion : MitelmanRUNX1/SH3D19 [21q22.12/4q31.3]  
Fusion : QuiverSH3D19
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3D19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3D19
dbVarSH3D19
ClinVarSH3D19
MonarchSH3D19
1000_GenomesSH3D19 
Exome Variant ServerSH3D19
GNOMAD BrowserENSG00000109686
Varsome BrowserSH3D19
ACMGSH3D19 variants
VarityQ5HYK7
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]  
Somatic Mutations in Cancer : COSMIC3DSH3D19
Mutations and Diseases : HGMDSH3D19
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSH3D19
DgiDB (Drug Gene Interaction Database)SH3D19
DoCM (Curated mutations)SH3D19
CIViC (Clinical Interpretations of Variants in Cancer)SH3D19
Cancer3DSH3D19
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608674   
Orphanet
DisGeNETSH3D19
MedgenSH3D19
Genetic Testing Registry SH3D19
NextProtQ5HYK7 [Medical]
GENETestsSH3D19
Target ValidationSH3D19
Huge Navigator SH3D19 [HugePedia]
ClinGenSH3D19
Clinical trials, drugs, therapy
MyCancerGenomeSH3D19
Protein Interactions : CTDSH3D19
Pharm GKB GenePA162403244
PharosQ5HYK7
Clinical trialSH3D19
Miscellaneous
canSAR (ICR)SH3D19
HarmonizomeSH3D19
DataMed IndexSH3D19
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSH3D19
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:31:01 CEST 2021
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