Atlas of Genetics and Cytogenetics in Oncology and Haematology


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VPS13B (vacuolar protein sorting 13 homolog B (yeast))

Identity

Alias_namesCHS1
COH1
Cohen syndrome 1
vacuolar protein sorting 13 homolog B (yeast)
Other alias
HGNC (Hugo) VPS13B
LocusID (NCBI) 157680
Atlas_Id 75625
Location 8q22.2  [Link to chromosome band 8q22]
Location_base_pair Starts at 100025494 and ends at 100222015 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALB (4q13.3) / VPS13B (8q22.2)HSP90AA1 (14q32.31) / VPS13B (8q22.2)LRP12 (8q22.3) / VPS13B (8q22.2)
VPS13B (8q22.2) / AKAP7 (6q23.2)VPS13B (8q22.2) / ANKRD46 (8q22.2)VPS13B (8q22.2) / CCDC6 (10q21.2)
VPS13B (8q22.2) / CDADC1 (13q14.2)VPS13B (8q22.2) / CUL4B (Xq24)VPS13B (8q22.2) / DPYS (8q22.3)
VPS13B (8q22.2) / EFR3A (8q24.22)VPS13B (8q22.2) / GDPD1 (17q22)VPS13B (8q22.2) / GMDS (6p25.3)
VPS13B (8q22.2) / LAPTM4B (8q22.1)VPS13B (8q22.2) / MYO9B (19p13.11)VPS13B (8q22.2) / NECAB1 (8q21.3)
VPS13B (8q22.2) / OSR2 (8q22.2)VPS13B (8q22.2) / SGCZ (8p22)VPS13B MYO9B
VPS13B CDADC1VPS13B ANKRD46VPS13B EFR3A
VPS13B OSR2VPS13B NECAB1VPS13B GMDS
VPS13B SGCZVPS13B DPYSVPS13B AKAP7
VPS13B CCDC6

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)VPS13B   2183
LRG (Locus Reference Genomic)LRG_351
Cards
Entrez_Gene (NCBI)VPS13B  157680  vacuolar protein sorting 13 homolog B (yeast)
AliasesCHS1; COH1
GeneCards (Weizmann)VPS13B
Ensembl hg19 (Hinxton)ENSG00000132549 [Gene_View]  chr8:100025494-100222015 [Contig_View]  VPS13B [Vega]
Ensembl hg38 (Hinxton)ENSG00000132549 [Gene_View]  chr8:100025494-100222015 [Contig_View]  VPS13B [Vega]
ICGC DataPortalENSG00000132549
TCGA cBioPortalVPS13B
AceView (NCBI)VPS13B
Genatlas (Paris)VPS13B
WikiGenes157680
SOURCE (Princeton)VPS13B
Genetics Home Reference (NIH)VPS13B
Genomic and cartography
GoldenPath hg19 (UCSC)VPS13B  -     chr8:100025494-100222015 +  8q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)VPS13B  -     8q22.2   [Description]    (hg38-Dec_2013)
EnsemblVPS13B - 8q22.2 [CytoView hg19]  VPS13B - 8q22.2 [CytoView hg38]
Mapping of homologs : NCBIVPS13B [Mapview hg19]  VPS13B [Mapview hg38]
OMIM216550   607817   
Gene and transcription
Genbank (Entrez)AB011104 AJ608772 AJ608773 AK000590 AK091431
RefSeq transcript (Entrez)NM_015243 NM_017890 NM_152564 NM_181661 NM_184042
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_007098 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)VPS13B
Cluster EST : UnigeneHs.191540 [ NCBI ]
CGAP (NCI)Hs.191540
Alternative Splicing GalleryENSG00000132549
Gene ExpressionVPS13B [ NCBI-GEO ]   VPS13B [ EBI - ARRAY_EXPRESS ]   VPS13B [ SEEK ]   VPS13B [ MEM ]
Gene Expression Viewer (FireBrowse)VPS13B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)157680
GTEX Portal (Tissue expression)VPS13B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z7G8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z7G8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z7G8
Splice isoforms : SwissVarQ7Z7G8
PhosPhoSitePlusQ7Z7G8
Domains : Interpro (EBI)Autophagy-rel_C    VPS13A_N    VPSAP_dom   
Domain families : Pfam (Sanger)ATG_C (PF09333)    Chorein_N (PF12624)    DUF1162 (PF06650)   
Domain families : Pfam (NCBI)pfam09333    pfam12624    pfam06650   
Conserved Domain (NCBI)VPS13B
DMDM Disease mutations157680
Blocks (Seattle)VPS13B
SuperfamilyQ7Z7G8
Human Protein AtlasENSG00000132549
Peptide AtlasQ7Z7G8
HPRD06379
IPIIPI00376439   IPI00420061   IPI00376437   IPI00376436   IPI00941724   IPI00970801   IPI00815825   IPI00980438   IPI00981084   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z7G8
IntAct (EBI)Q7Z7G8
FunCoupENSG00000132549
BioGRIDVPS13B
STRING (EMBL)VPS13B
ZODIACVPS13B
Ontologies - Pathways
QuickGOQ7Z7G8
Ontology : AmiGOprotein transport  
Ontology : EGO-EBIprotein transport  
NDEx NetworkVPS13B
Atlas of Cancer Signalling NetworkVPS13B
Wikipedia pathwaysVPS13B
Orthology - Evolution
OrthoDB157680
GeneTree (enSembl)ENSG00000132549
Phylogenetic Trees/Animal Genes : TreeFamVPS13B
HOVERGENQ7Z7G8
HOGENOMQ7Z7G8
Homologs : HomoloGeneVPS13B
Homology/Alignments : Family Browser (UCSC)VPS13B
Gene fusions - Rearrangements
Fusion: TCGAVPS13B MYO9B
Fusion: TCGAVPS13B CDADC1
Fusion: TCGAVPS13B ANKRD46
Fusion: TCGAVPS13B EFR3A
Fusion: TCGAVPS13B OSR2
Fusion: TCGAVPS13B NECAB1
Fusion: TCGAVPS13B GMDS
Fusion: TCGAVPS13B SGCZ
Fusion: TCGAVPS13B DPYS
Fusion: TCGAVPS13B AKAP7
Fusion: TCGAVPS13B CCDC6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVPS13B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VPS13B
dbVarVPS13B
ClinVarVPS13B
1000_GenomesVPS13B 
Exome Variant ServerVPS13B
ExAC (Exome Aggregation Consortium)VPS13B (select the gene name)
Genetic variants : HAPMAP157680
Genomic Variants (DGV)VPS13B [DGVbeta]
DECIPHER (Syndromes)8:100025494-100222015  ENSG00000132549
CONAN: Copy Number AnalysisVPS13B 
Mutations
ICGC Data PortalVPS13B 
TCGA Data PortalVPS13B 
Broad Tumor PortalVPS13B
OASIS PortalVPS13B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVPS13B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVPS13B
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch VPS13B
DgiDB (Drug Gene Interaction Database)VPS13B
DoCM (Curated mutations)VPS13B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VPS13B (select a term)
intoGenVPS13B
Cancer3DVPS13B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM216550    607817   
Orphanet445   
MedgenVPS13B
Genetic Testing Registry VPS13B
NextProtQ7Z7G8 [Medical]
TSGene157680
GENETestsVPS13B
Huge Navigator VPS13B [HugePedia]
snp3D : Map Gene to Disease157680
BioCentury BCIQVPS13B
ClinGenVPS13B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD157680
Chemical/Pharm GKB GenePA26699
Clinical trialVPS13B
Miscellaneous
canSAR (ICR)VPS13B (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVPS13B
EVEXVPS13B
GoPubMedVPS13B
iHOPVPS13B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:51:17 CET 2017

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