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VPS13D (vacuolar protein sorting 13 homolog D)

Identity

Alias_namesvacuolar protein sorting 13D (yeast)
vacuolar protein sorting 13 homolog D (S. cerevisiae)
Alias_symbol (synonym)FLJ10619
KIAA0453
Other alias-
HGNC (Hugo) VPS13D
LocusID (NCBI) 55187
Atlas_Id 42796
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 12230039 and ends at 12512046 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATF5 (19q13.33) / VPS13D (1p36.22)CST3 (20p11.21) / VPS13D (1p36.22)DHDDS (1p36.11) / VPS13D (1p36.22)
FGD4 (12p11.21) / VPS13D (1p36.22)VPS13D (1p36.22) / PITPNB (22q12.1)VPS13D (1p36.22) / RERE (1p36.23)
ZBTB40 (1p36.12) / VPS13D (1p36.22)ZNF474 (5q23.2) / VPS13D (1p36.22)VPS13D 1p36.22 / RERE 1p36.23
ZBTB40 1p36.12 / VPS13D 1p36.22

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)VPS13D   23595
Cards
Entrez_Gene (NCBI)VPS13D  55187  vacuolar protein sorting 13 homolog D
Aliases
GeneCards (Weizmann)VPS13D
Ensembl hg19 (Hinxton)ENSG00000048707 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000048707 [Gene_View]  chr1:12230039-12512046 [Contig_View]  VPS13D [Vega]
ICGC DataPortalENSG00000048707
TCGA cBioPortalVPS13D
AceView (NCBI)VPS13D
Genatlas (Paris)VPS13D
WikiGenes55187
SOURCE (Princeton)VPS13D
Genetics Home Reference (NIH)VPS13D
Genomic and cartography
GoldenPath hg38 (UCSC)VPS13D  -     chr1:12230039-12512046 +  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VPS13D  -     1p36.22   [Description]    (hg19-Feb_2009)
EnsemblVPS13D - 1p36.22 [CytoView hg19]  VPS13D - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIVPS13D [Mapview hg19]  VPS13D [Mapview hg38]
OMIM608877   
Gene and transcription
Genbank (Entrez)AB007922 AF052104 AI290874 AJ608774 AJ608775
RefSeq transcript (Entrez)NM_015378 NM_018156
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VPS13D
Cluster EST : UnigeneHs.439381 [ NCBI ]
CGAP (NCI)Hs.439381
Alternative Splicing GalleryENSG00000048707
Gene ExpressionVPS13D [ NCBI-GEO ]   VPS13D [ EBI - ARRAY_EXPRESS ]   VPS13D [ SEEK ]   VPS13D [ MEM ]
Gene Expression Viewer (FireBrowse)VPS13D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55187
GTEX Portal (Tissue expression)VPS13D
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5THJ4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5THJ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5THJ4
Splice isoforms : SwissVarQ5THJ4
PhosPhoSitePlusQ5THJ4
Domaine pattern : Prosite (Expaxy)UBA (PS50030)   
Domains : Interpro (EBI)SHR-BD    UBA    UBA-like    VPS13    VPS13_C    VPS13_mid_rpt    VPS13_N    VPS13_N2   
Domain families : Pfam (Sanger)Chorein_N (PF12624)    SHR-BD (PF06650)    UBA (PF00627)    VPS13 (PF16908)    VPS13_C (PF16909)    VPS13_mid_rpt (PF16910)   
Domain families : Pfam (NCBI)pfam12624    pfam06650    pfam00627    pfam16908    pfam16909    pfam16910   
Domain families : Smart (EMBL)UBA (SM00165)  
Conserved Domain (NCBI)VPS13D
DMDM Disease mutations55187
Blocks (Seattle)VPS13D
SuperfamilyQ5THJ4
Human Protein AtlasENSG00000048707
Peptide AtlasQ5THJ4
HPRD10593
IPIIPI00783859   IPI00784473   IPI00922418   IPI00924608   
Protein Interaction databases
DIP (DOE-UCLA)Q5THJ4
IntAct (EBI)Q5THJ4
FunCoupENSG00000048707
BioGRIDVPS13D
STRING (EMBL)VPS13D
ZODIACVPS13D
Ontologies - Pathways
QuickGOQ5THJ4
Ontology : AmiGOextracellular exosome  
Ontology : EGO-EBIextracellular exosome  
NDEx NetworkVPS13D
Atlas of Cancer Signalling NetworkVPS13D
Wikipedia pathwaysVPS13D
Orthology - Evolution
OrthoDB55187
GeneTree (enSembl)ENSG00000048707
Phylogenetic Trees/Animal Genes : TreeFamVPS13D
HOVERGENQ5THJ4
HOGENOMQ5THJ4
Homologs : HomoloGeneVPS13D
Homology/Alignments : Family Browser (UCSC)VPS13D
Gene fusions - Rearrangements
Fusion : MitelmanVPS13D/RERE [1p36.22/1p36.23]  
Fusion : MitelmanZBTB40/VPS13D [1p36.12/1p36.22]  [t(1;1)(p36;p36)]  
Fusion: TCGAVPS13D 1p36.22 RERE 1p36.23 BRCA
Fusion: TCGAZBTB40 1p36.12 VPS13D 1p36.22 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVPS13D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VPS13D
dbVarVPS13D
ClinVarVPS13D
1000_GenomesVPS13D 
Exome Variant ServerVPS13D
ExAC (Exome Aggregation Consortium)VPS13D (select the gene name)
Genetic variants : HAPMAP55187
Genomic Variants (DGV)VPS13D [DGVbeta]
DECIPHERVPS13D [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVPS13D 
Mutations
ICGC Data PortalVPS13D 
TCGA Data PortalVPS13D 
Broad Tumor PortalVPS13D
OASIS PortalVPS13D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVPS13D  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVPS13D
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 VPS13D
DgiDB (Drug Gene Interaction Database)VPS13D
DoCM (Curated mutations)VPS13D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VPS13D (select a term)
intoGenVPS13D
Cancer3DVPS13D(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608877   
Orphanet
MedgenVPS13D
Genetic Testing Registry VPS13D
NextProtQ5THJ4 [Medical]
TSGene55187
GENETestsVPS13D
Huge Navigator VPS13D [HugePedia]
snp3D : Map Gene to Disease55187
BioCentury BCIQVPS13D
ClinGenVPS13D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55187
Chemical/Pharm GKB GenePA134970144
Clinical trialVPS13D
Miscellaneous
canSAR (ICR)VPS13D (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVPS13D
EVEXVPS13D
GoPubMedVPS13D
iHOPVPS13D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:43:52 CEST 2017

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