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SNAP47 (synaptosome associated protein 47)

Identity

Alias_namesC1orf142
chromosome 1 open reading frame 142
synaptosomal-associated protein, 47kDa
Alias_symbol (synonym)SVAP1
SNAP-47
Other aliasESFI5812
HEL-S-290
HEL170
HGNC (Hugo) SNAP47
LocusID (NCBI) 116841
Atlas_Id 53924
Location 1q42.13  [Link to chromosome band 1q42]
Location_base_pair Starts at 227734996 and ends at 227781231 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)
PHLDB1 (11q23.3) / SNAP47 (1q42.13)SNAP47 (1q42.13) / OXA1L (14q11.2)SNAP47 (1q42.13) / SNAP47 (1q42.13)

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)SNAP47   30669
Cards
Entrez_Gene (NCBI)SNAP47  116841  synaptosome associated protein 47
AliasesC1orf142; ESFI5812; HEL-S-290; HEL170; 
SNAP-47; SVAP1
GeneCards (Weizmann)SNAP47
Ensembl hg19 (Hinxton)ENSG00000143740 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143740 [Gene_View]  ENSG00000143740 [Sequence]  chr1:227734996-227781231 [Contig_View]  SNAP47 [Vega]
ICGC DataPortalENSG00000143740
TCGA cBioPortalSNAP47
AceView (NCBI)SNAP47
Genatlas (Paris)SNAP47
WikiGenes116841
SOURCE (Princeton)SNAP47
Genetics Home Reference (NIH)SNAP47
Genomic and cartography
GoldenPath hg38 (UCSC)SNAP47  -     chr1:227734996-227781231 +  1q42.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNAP47  -     1q42.13   [Description]    (hg19-Feb_2009)
GoldenPathSNAP47 - 1q42.13 [CytoView hg19]  SNAP47 - 1q42.13 [CytoView hg38]
ImmunoBaseENSG00000143740
Mapping of homologs : NCBISNAP47 [Mapview hg19]  SNAP47 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF370397 AK054633 AK055266 AK093736 AY090635
RefSeq transcript (Entrez)NM_001323930 NM_001323931 NM_001323932 NM_001323933 NM_001323934 NM_001323935 NM_053052
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNAP47
Cluster EST : UnigeneHs.745334 [ NCBI ]
CGAP (NCI)Hs.745334
Alternative Splicing GalleryENSG00000143740
Gene ExpressionSNAP47 [ NCBI-GEO ]   SNAP47 [ EBI - ARRAY_EXPRESS ]   SNAP47 [ SEEK ]   SNAP47 [ MEM ]
Gene Expression Viewer (FireBrowse)SNAP47 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116841
GTEX Portal (Tissue expression)SNAP47
Human Protein AtlasENSG00000143740-SNAP47 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5SQN1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5SQN1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5SQN1
Splice isoforms : SwissVarQ5SQN1
PhosPhoSitePlusQ5SQN1
Domaine pattern : Prosite (Expaxy)T_SNARE (PS50192)   
Domains : Interpro (EBI)PH-like_dom_sf    T_SNARE_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SNAP47
DMDM Disease mutations116841
Blocks (Seattle)SNAP47
SuperfamilyQ5SQN1
Human Protein Atlas [tissue]ENSG00000143740-SNAP47 [tissue]
Peptide AtlasQ5SQN1
HPRD17148
IPIIPI00639909   IPI00291292   IPI00289433   IPI00641526   
Protein Interaction databases
DIP (DOE-UCLA)Q5SQN1
IntAct (EBI)Q5SQN1
FunCoupENSG00000143740
BioGRIDSNAP47
STRING (EMBL)SNAP47
ZODIACSNAP47
Ontologies - Pathways
QuickGOQ5SQN1
Ontology : AmiGOSNAP receptor activity  protein binding  plasma membrane  exocytosis  vesicle fusion  postsynaptic density  synaptic vesicle priming  syntaxin binding  dendrite  synaptic vesicle membrane  BLOC-1 complex  SNARE complex  synaptic vesicle fusion to presynaptic active zone membrane  neuronal cell body  perinuclear region of cytoplasm  long-term synaptic potentiation  hippocampal mossy fiber to CA3 synapse  exocytic insertion of neurotransmitter receptor to postsynaptic membrane  glutamatergic synapse  
Ontology : EGO-EBISNAP receptor activity  protein binding  plasma membrane  exocytosis  vesicle fusion  postsynaptic density  synaptic vesicle priming  syntaxin binding  dendrite  synaptic vesicle membrane  BLOC-1 complex  SNARE complex  synaptic vesicle fusion to presynaptic active zone membrane  neuronal cell body  perinuclear region of cytoplasm  long-term synaptic potentiation  hippocampal mossy fiber to CA3 synapse  exocytic insertion of neurotransmitter receptor to postsynaptic membrane  glutamatergic synapse  
Pathways : KEGGSNARE interactions in vesicular transport   
NDEx NetworkSNAP47
Atlas of Cancer Signalling NetworkSNAP47
Wikipedia pathwaysSNAP47
Orthology - Evolution
OrthoDB116841
GeneTree (enSembl)ENSG00000143740
Phylogenetic Trees/Animal Genes : TreeFamSNAP47
HOGENOMQ5SQN1
Homologs : HomoloGeneSNAP47
Homology/Alignments : Family Browser (UCSC)SNAP47
Gene fusions - Rearrangements
Fusion : QuiverSNAP47
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNAP47 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNAP47
dbVarSNAP47
ClinVarSNAP47
1000_GenomesSNAP47 
Exome Variant ServerSNAP47
ExAC (Exome Aggregation Consortium)ENSG00000143740
GNOMAD BrowserENSG00000143740
Varsome BrowserSNAP47
Genetic variants : HAPMAP116841
Genomic Variants (DGV)SNAP47 [DGVbeta]
DECIPHERSNAP47 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNAP47 
Mutations
ICGC Data PortalSNAP47 
TCGA Data PortalSNAP47 
Broad Tumor PortalSNAP47
OASIS PortalSNAP47 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNAP47  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSNAP47
Mutations and Diseases : HGMDSNAP47
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 SNAP47
DgiDB (Drug Gene Interaction Database)SNAP47
DoCM (Curated mutations)SNAP47 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNAP47 (select a term)
intoGenSNAP47
Cancer3DSNAP47(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETSNAP47
MedgenSNAP47
Genetic Testing Registry SNAP47
NextProtQ5SQN1 [Medical]
TSGene116841
GENETestsSNAP47
Target ValidationSNAP47
Huge Navigator SNAP47 [HugePedia]
snp3D : Map Gene to Disease116841
BioCentury BCIQSNAP47
ClinGenSNAP47
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD116841
Chemical/Pharm GKB GenePA164725983
Clinical trialSNAP47
Miscellaneous
canSAR (ICR)SNAP47 (select the gene name)
DataMed IndexSNAP47
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNAP47
EVEXSNAP47
GoPubMedSNAP47
iHOPSNAP47
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:08:42 CET 2019

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