VPS13B (vacuolar protein sorting 13 homolog B)

2014-11-01  

Identity

HGNC
VPS13B
LOCATION
8q22.2
LOCUSID
157680
ALIAS
CHS1,COH1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 157680
MIM: 607817
HGNC: 2183
Ensembl: ENSG00000132549

Variants:

dbSNP: 157680
ClinVar: 157680
TCGA: ENSG00000132549
COSMIC: VPS13B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132549ENST00000355155Q7Z7G8
ENSG00000132549ENST00000357162Q7Z7G8
ENSG00000132549ENST00000358544Q7Z7G8
ENSG00000132549ENST00000441350Q7Z7G8
ENSG00000132549ENST00000496144Q7Z7G8
ENSG00000132549ENST00000521559H0YB72

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
370901882023A Novel Variant in VPS13B Underlying Cohen Syndrome.0
370901882023A Novel Variant in VPS13B Underlying Cohen Syndrome.0
356906612022Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.7
356906612022Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.7
330254792021Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.3
335470712021A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.19
340416862021A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.2
330254792021Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.3
335470712021A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.19
340416862021A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.2
306021322020CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.4
314447032020Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.0
315800082020Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.6
318251612020A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.5
323759002020Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations.8

Citation

Dessen P

VPS13B (vacuolar protein sorting 13 homolog B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75625/case-report-explorer/img/js/lib/zoomerang.js