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VPS13C (vacuolar protein sorting 13 homolog C)

Identity

Alias (NCBI)PARK23
HGNC (Hugo) VPS13C
HGNC Alias symbFLJ20136
FLJ10381
KIAA1421
HGNC Previous namevacuolar protein sorting 13C (yeast)
 vacuolar protein sorting 13 homolog C (S. cerevisiae)
LocusID (NCBI) 54832
Atlas_Id 75626
Location 15q22.2  [Link to chromosome band 15q22]
Location_base_pair Starts at 61852391 and ends at 62060465 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)
INF2 (14q32.33) / VPS13C (15q22.2)VPS13C (15q22.2) / AMMECR1 (Xq23)VPS13C (15q22.2) / C15orf59 (15q24.1)
VPS13C (15q22.2) / MBP (18q23)VPS13C (15q22.2) / PSPC1 (13q12.11)VPS13C (15q22.2) / RAPGEF1 (9q34.13)
VPS13C (15q22.2) / SUPT16H (14q11.2)VPS13C (15q22.2) / VPS13C (15q22.2)

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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(15;15)(q22;q24) VPS13C/C15orf59


External links

Nomenclature
HGNC (Hugo)VPS13C   23594
Cards
Entrez_Gene (NCBI)VPS13C  54832  vacuolar protein sorting 13 homolog C
AliasesPARK23
GeneCards (Weizmann)VPS13C
Ensembl hg19 (Hinxton)ENSG00000129003 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129003 [Gene_View]  ENSG00000129003 [Sequence]  chr15:61852391-62060465 [Contig_View]  VPS13C [Vega]
ICGC DataPortalENSG00000129003
TCGA cBioPortalVPS13C
AceView (NCBI)VPS13C
Genatlas (Paris)VPS13C
WikiGenes54832
SOURCE (Princeton)VPS13C
Genetics Home Reference (NIH)VPS13C
Genomic and cartography
GoldenPath hg38 (UCSC)VPS13C  -     chr15:61852391-62060465 -  15q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VPS13C  -     15q22.2   [Description]    (hg19-Feb_2009)
GoldenPathVPS13C - 15q22.2 [CytoView hg19]  VPS13C - 15q22.2 [CytoView hg38]
ImmunoBaseENSG00000129003
genome Data Viewer NCBIVPS13C [Mapview hg19]  
OMIM608879   616840   
Gene and transcription
Genbank (Entrez)AB037842 AJ608770 AJ608771 AJ626860 AJ626861
RefSeq transcript (Entrez)NM_001018088 NM_017684 NM_018080 NM_020821
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VPS13C
Alternative Splicing GalleryENSG00000129003
Gene ExpressionVPS13C [ NCBI-GEO ]   VPS13C [ EBI - ARRAY_EXPRESS ]   VPS13C [ SEEK ]   VPS13C [ MEM ]
Gene Expression Viewer (FireBrowse)VPS13C [ Firebrowse - Broad ]
GenevisibleExpression of VPS13C in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54832
GTEX Portal (Tissue expression)VPS13C
Human Protein AtlasENSG00000129003-VPS13C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ709C8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ709C8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ709C8
Splice isoforms : SwissVarQ709C8
PhosPhoSitePlusQ709C8
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)VPS13C
DMDM Disease mutations54832
Blocks (Seattle)VPS13C
SuperfamilyQ709C8
Human Protein Atlas [tissue]ENSG00000129003-VPS13C [tissue]
Peptide AtlasQ709C8
HPRD12323
IPIIPI00465428   IPI00412216   IPI00797358   IPI00604778   
Protein Interaction databases
DIP (DOE-UCLA)Q709C8
IntAct (EBI)Q709C8
FunCoupENSG00000129003
BioGRIDVPS13C
STRING (EMBL)VPS13C
ZODIACVPS13C
Ontologies - Pathways
QuickGOQ709C8
Ontology : AmiGOcell  cytoplasm  mitochondrial outer membrane  cytosol  protein targeting to vacuole  Golgi to endosome transport  mitochondrion organization  mitochondrion organization  extrinsic component of membrane  protein retention in Golgi apparatus  extracellular exosome  negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  
Ontology : EGO-EBIcell  cytoplasm  mitochondrial outer membrane  cytosol  protein targeting to vacuole  Golgi to endosome transport  mitochondrion organization  mitochondrion organization  extrinsic component of membrane  protein retention in Golgi apparatus  extracellular exosome  negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  
NDEx NetworkVPS13C
Atlas of Cancer Signalling NetworkVPS13C
Wikipedia pathwaysVPS13C
Orthology - Evolution
OrthoDB54832
GeneTree (enSembl)ENSG00000129003
Phylogenetic Trees/Animal Genes : TreeFamVPS13C
HOGENOMQ709C8
Homologs : HomoloGeneVPS13C
Homology/Alignments : Family Browser (UCSC)VPS13C
Gene fusions - Rearrangements
Fusion : QuiverVPS13C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVPS13C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VPS13C
dbVarVPS13C
ClinVarVPS13C
1000_GenomesVPS13C 
Exome Variant ServerVPS13C
GNOMAD BrowserENSG00000129003
Varsome BrowserVPS13C
Genetic variants : HAPMAP54832
Genomic Variants (DGV)VPS13C [DGVbeta]
DECIPHERVPS13C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVPS13C 
Mutations
ICGC Data PortalVPS13C 
TCGA Data PortalVPS13C 
Broad Tumor PortalVPS13C
OASIS PortalVPS13C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVPS13C  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DVPS13C
Mutations and Diseases : HGMDVPS13C
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 VPS13C
DgiDB (Drug Gene Interaction Database)VPS13C
DoCM (Curated mutations)VPS13C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VPS13C (select a term)
intoGenVPS13C
Cancer3DVPS13C(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608879    616840   
Orphanet932   
DisGeNETVPS13C
MedgenVPS13C
Genetic Testing Registry VPS13C
NextProtQ709C8 [Medical]
TSGene54832
GENETestsVPS13C
Target ValidationVPS13C
Huge Navigator VPS13C [HugePedia]
snp3D : Map Gene to Disease54832
BioCentury BCIQVPS13C
ClinGenVPS13C
Clinical trials, drugs, therapy
Protein Interactions : CTD54832
Pharm GKB GenePA134990089
Clinical trialVPS13C
Miscellaneous
canSAR (ICR)VPS13C (select the gene name)
HarmonizomeVPS13C
DataMed IndexVPS13C
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVPS13C
EVEXVPS13C
GoPubMedVPS13C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 16:35:11 CEST 2020

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