Atlas of Genetics and Cytogenetics in Oncology and Haematology


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VPS13A (vacuolar protein sorting 13 homolog A)

Identity

Alias_namesCHAC
chorea acanthocytosis
vacuolar protein sorting 13A (yeast)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
Alias_symbol (synonym)KIAA0986
HGNC (Hugo) VPS13A
LocusID (NCBI) 23230
Atlas_Id 52602
Location 9q21.2  [Link to chromosome band 9q21]
Location_base_pair Starts at 79792361 and ends at 80032399 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GPR107 (9q34.11) / VPS13A (9q21.2)GPR107 9q34.11 / VPS13A 9q21.2

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)VPS13A   1908
Cards
Entrez_Gene (NCBI)VPS13A  23230  vacuolar protein sorting 13 homolog A
AliasesCHAC; CHOREIN
GeneCards (Weizmann)VPS13A
Ensembl hg19 (Hinxton)ENSG00000197969 [Gene_View]  chr9:79792361-80032399 [Contig_View]  VPS13A [Vega]
Ensembl hg38 (Hinxton)ENSG00000197969 [Gene_View]  chr9:79792361-80032399 [Contig_View]  VPS13A [Vega]
ICGC DataPortalENSG00000197969
TCGA cBioPortalVPS13A
AceView (NCBI)VPS13A
Genatlas (Paris)VPS13A
WikiGenes23230
SOURCE (Princeton)VPS13A
Genetics Home Reference (NIH)VPS13A
Genomic and cartography
GoldenPath hg19 (UCSC)VPS13A  -     chr9:79792361-80032399 +  9q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)VPS13A  -     9q21.2   [Description]    (hg38-Dec_2013)
EnsemblVPS13A - 9q21.2 [CytoView hg19]  VPS13A - 9q21.2 [CytoView hg38]
Mapping of homologs : NCBIVPS13A [Mapview hg19]  VPS13A [Mapview hg38]
OMIM200150   605978   
Gene and transcription
Genbank (Entrez)AB023203 AB054005 AF337532 AJ608769 AJ626859
RefSeq transcript (Entrez)NM_001018037 NM_001018038 NM_015186 NM_033305
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_008931 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)VPS13A
Cluster EST : UnigeneHs.662256 [ NCBI ]
CGAP (NCI)Hs.662256
Alternative Splicing GalleryENSG00000197969
Gene ExpressionVPS13A [ NCBI-GEO ]   VPS13A [ EBI - ARRAY_EXPRESS ]   VPS13A [ SEEK ]   VPS13A [ MEM ]
Gene Expression Viewer (FireBrowse)VPS13A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23230
GTEX Portal (Tissue expression)VPS13A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RL7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RL7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RL7
Splice isoforms : SwissVarQ96RL7
PhosPhoSitePlusQ96RL7
Domains : Interpro (EBI)Autophagy-rel_C    SHR-BD    VPS13    VPS13_C    VPS13_mid_rpt    VPS13_N    VPS13_N2   
Domain families : Pfam (Sanger)ATG_C (PF09333)    Chorein_N (PF12624)    SHR-BD (PF06650)    VPS13 (PF16908)    VPS13_C (PF16909)    VPS13_mid_rpt (PF16910)   
Domain families : Pfam (NCBI)pfam09333    pfam12624    pfam06650    pfam16908    pfam16909    pfam16910   
Conserved Domain (NCBI)VPS13A
DMDM Disease mutations23230
Blocks (Seattle)VPS13A
SuperfamilyQ96RL7
Human Protein AtlasENSG00000197969
Peptide AtlasQ96RL7
HPRD05814
IPIIPI00873376   IPI00478586   IPI00746613   IPI00604660   IPI01015146   IPI01010006   IPI01012336   IPI01009641   IPI01013797   
Protein Interaction databases
DIP (DOE-UCLA)Q96RL7
IntAct (EBI)Q96RL7
FunCoupENSG00000197969
BioGRIDVPS13A
STRING (EMBL)VPS13A
ZODIACVPS13A
Ontologies - Pathways
QuickGOQ96RL7
Ontology : AmiGOprotein binding  intracellular  intracellular  cytosol  protein targeting to vacuole  Golgi to endosome transport  nervous system development  locomotory behavior  protein localization  extrinsic component of membrane  dense core granule  social behavior  protein retention in Golgi apparatus  
Ontology : EGO-EBIprotein binding  intracellular  intracellular  cytosol  protein targeting to vacuole  Golgi to endosome transport  nervous system development  locomotory behavior  protein localization  extrinsic component of membrane  dense core granule  social behavior  protein retention in Golgi apparatus  
NDEx NetworkVPS13A
Atlas of Cancer Signalling NetworkVPS13A
Wikipedia pathwaysVPS13A
Orthology - Evolution
OrthoDB23230
GeneTree (enSembl)ENSG00000197969
Phylogenetic Trees/Animal Genes : TreeFamVPS13A
HOVERGENQ96RL7
HOGENOMQ96RL7
Homologs : HomoloGeneVPS13A
Homology/Alignments : Family Browser (UCSC)VPS13A
Gene fusions - Rearrangements
Fusion : MitelmanGPR107/VPS13A [9q34.11/9q21.2]  [t(9;9)(q21;q34)]  
Fusion: TCGAGPR107 9q34.11 VPS13A 9q21.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVPS13A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VPS13A
dbVarVPS13A
ClinVarVPS13A
1000_GenomesVPS13A 
Exome Variant ServerVPS13A
ExAC (Exome Aggregation Consortium)VPS13A (select the gene name)
Genetic variants : HAPMAP23230
Genomic Variants (DGV)VPS13A [DGVbeta]
DECIPHER (Syndromes)9:79792361-80032399  ENSG00000197969
CONAN: Copy Number AnalysisVPS13A 
Mutations
ICGC Data PortalVPS13A 
TCGA Data PortalVPS13A 
Broad Tumor PortalVPS13A
OASIS PortalVPS13A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVPS13A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVPS13A
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 VPS13A
DgiDB (Drug Gene Interaction Database)VPS13A
DoCM (Curated mutations)VPS13A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VPS13A (select a term)
intoGenVPS13A
Cancer3DVPS13A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM200150    605978   
Orphanet2219   
MedgenVPS13A
Genetic Testing Registry VPS13A
NextProtQ96RL7 [Medical]
TSGene23230
GENETestsVPS13A
Huge Navigator VPS13A [HugePedia]
snp3D : Map Gene to Disease23230
BioCentury BCIQVPS13A
ClinGenVPS13A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23230
Chemical/Pharm GKB GenePA26444
Clinical trialVPS13A
Miscellaneous
canSAR (ICR)VPS13A (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVPS13A
EVEXVPS13A
GoPubMedVPS13A
iHOPVPS13A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:55:38 CET 2016

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