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SNF8 (SNF8, ESCRT-II complex subunit)

Identity

Alias_namesSNF8
Alias_symbol (synonym)EAP30
VPS22
Dot3
Other alias
HGNC (Hugo) SNF8
LocusID (NCBI) 11267
Atlas_Id 54646
Location 17q21.32  [Link to chromosome band 17q21]
Location_base_pair Starts at 48930096 and ends at 48944842 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FBXL20 (17q12) / SNF8 (17q21.32)HDHD2 (18q21.1) / SNF8 (17q21.32)RPS6KB1 (17q23.1) / SNF8 (17q21.32)
SPOP (17q21.33) / SNF8 (17q21.32)HDHD2 18q21.1 / SNF8 17q21.32

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)SNF8   17028
Cards
Entrez_Gene (NCBI)SNF8  11267  SNF8, ESCRT-II complex subunit
AliasesDot3; EAP30; VPS22
GeneCards (Weizmann)SNF8
Ensembl hg19 (Hinxton)ENSG00000159210 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159210 [Gene_View]  chr17:48930096-48944842 [Contig_View]  SNF8 [Vega]
ICGC DataPortalENSG00000159210
TCGA cBioPortalSNF8
AceView (NCBI)SNF8
Genatlas (Paris)SNF8
WikiGenes11267
SOURCE (Princeton)SNF8
Genetics Home Reference (NIH)SNF8
Genomic and cartography
GoldenPath hg38 (UCSC)SNF8  -     chr17:48930096-48944842 -  17q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNF8  -     17q21.32   [Description]    (hg19-Feb_2009)
EnsemblSNF8 - 17q21.32 [CytoView hg19]  SNF8 - 17q21.32 [CytoView hg38]
Mapping of homologs : NCBISNF8 [Mapview hg19]  SNF8 [Mapview hg38]
OMIM610904   
Gene and transcription
Genbank (Entrez)AF156102 AK123127 BC008976 BC038830 BE394098
RefSeq transcript (Entrez)NM_001317192 NM_001317193 NM_001317194 NM_007241
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNF8
Cluster EST : UnigeneHs.127249 [ NCBI ]
CGAP (NCI)Hs.127249
Alternative Splicing GalleryENSG00000159210
Gene ExpressionSNF8 [ NCBI-GEO ]   SNF8 [ EBI - ARRAY_EXPRESS ]   SNF8 [ SEEK ]   SNF8 [ MEM ]
Gene Expression Viewer (FireBrowse)SNF8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11267
GTEX Portal (Tissue expression)SNF8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96H20   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96H20  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96H20
Splice isoforms : SwissVarQ96H20
PhosPhoSitePlusQ96H20
Domains : Interpro (EBI)EAP30    ESCRT-2_cplx_Snf8    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)EAP30 (PF04157)   
Domain families : Pfam (NCBI)pfam04157   
Conserved Domain (NCBI)SNF8
DMDM Disease mutations11267
Blocks (Seattle)SNF8
PDB (SRS)2ZME    3CUQ   
PDB (PDBSum)2ZME    3CUQ   
PDB (IMB)2ZME    3CUQ   
PDB (RSDB)2ZME    3CUQ   
Structural Biology KnowledgeBase2ZME    3CUQ   
SCOP (Structural Classification of Proteins)2ZME    3CUQ   
CATH (Classification of proteins structures)2ZME    3CUQ   
SuperfamilyQ96H20
Human Protein AtlasENSG00000159210
Peptide AtlasQ96H20
HPRD16847
IPIIPI00101524   IPI00640699   IPI00793719   IPI01011581   IPI00795683   IPI01014312   
Protein Interaction databases
DIP (DOE-UCLA)Q96H20
IntAct (EBI)Q96H20
FunCoupENSG00000159210
BioGRIDSNF8
STRING (EMBL)SNF8
ZODIACSNF8
Ontologies - Pathways
QuickGOQ96H20
Ontology : AmiGOESCRT II complex  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  plasma membrane  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  protein C-terminus binding  transcription factor binding  endosome membrane  positive regulation of gene expression  regulation of multivesicular body size involved in endosome transport  membrane  endosomal transport  macroautophagy  channel regulator activity  late endosome membrane  endocytic recycling  multivesicular body assembly  regulation of protein catabolic process  protein homodimerization activity  protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway  regulation of MAP kinase activity  early endosome to late endosome transport  positive regulation of protein catabolic process  protein N-terminus binding  perinuclear region of cytoplasm  recycling endosome  regulation of protein complex stability  extracellular exosome  multivesicular body sorting pathway  positive regulation of exosomal secretion  regulation of viral budding via host ESCRT complex  
Ontology : EGO-EBIESCRT II complex  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  plasma membrane  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  protein C-terminus binding  transcription factor binding  endosome membrane  positive regulation of gene expression  regulation of multivesicular body size involved in endosome transport  membrane  endosomal transport  macroautophagy  channel regulator activity  late endosome membrane  endocytic recycling  multivesicular body assembly  regulation of protein catabolic process  protein homodimerization activity  protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway  regulation of MAP kinase activity  early endosome to late endosome transport  positive regulation of protein catabolic process  protein N-terminus binding  perinuclear region of cytoplasm  recycling endosome  regulation of protein complex stability  extracellular exosome  multivesicular body sorting pathway  positive regulation of exosomal secretion  regulation of viral budding via host ESCRT complex  
Pathways : KEGGEndocytosis   
NDEx NetworkSNF8
Atlas of Cancer Signalling NetworkSNF8
Wikipedia pathwaysSNF8
Orthology - Evolution
OrthoDB11267
GeneTree (enSembl)ENSG00000159210
Phylogenetic Trees/Animal Genes : TreeFamSNF8
HOVERGENQ96H20
HOGENOMQ96H20
Homologs : HomoloGeneSNF8
Homology/Alignments : Family Browser (UCSC)SNF8
Gene fusions - Rearrangements
Fusion : MitelmanFBXL20/SNF8 [17q12/17q21.32]  [t(17;17)(q12;q21)]  
Fusion : MitelmanHDHD2/SNF8 [18q21.1/17q21.32]  [t(17;18)(q21;q21)]  
Fusion : MitelmanRPS6KB1/SNF8 [17q23.1/17q21.32]  [t(17;17)(q21;q23)]  
Fusion: TCGAHDHD2 18q21.1 SNF8 17q21.32 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNF8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNF8
dbVarSNF8
ClinVarSNF8
1000_GenomesSNF8 
Exome Variant ServerSNF8
ExAC (Exome Aggregation Consortium)SNF8 (select the gene name)
Genetic variants : HAPMAP11267
Genomic Variants (DGV)SNF8 [DGVbeta]
DECIPHERSNF8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNF8 
Mutations
ICGC Data PortalSNF8 
TCGA Data PortalSNF8 
Broad Tumor PortalSNF8
OASIS PortalSNF8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNF8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNF8
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 SNF8
DgiDB (Drug Gene Interaction Database)SNF8
DoCM (Curated mutations)SNF8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNF8 (select a term)
intoGenSNF8
Cancer3DSNF8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610904   
Orphanet
MedgenSNF8
Genetic Testing Registry SNF8
NextProtQ96H20 [Medical]
TSGene11267
GENETestsSNF8
Target ValidationSNF8
Huge Navigator SNF8 [HugePedia]
snp3D : Map Gene to Disease11267
BioCentury BCIQSNF8
ClinGenSNF8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11267
Chemical/Pharm GKB GenePA142670892
Clinical trialSNF8
Miscellaneous
canSAR (ICR)SNF8 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNF8
EVEXSNF8
GoPubMedSNF8
iHOPSNF8
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 : Wed Jun 7 12:56:41 CEST 2017

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