VPS13B
Homo sapiens
Gene Name: vacuolar protein sorting 13 homolog B (yeast)
Aliases: CHS1, COH1, DKFZp313I0811, KIAA0532
Chromosome No: 8
Chromosome Band: 8q22.2
Genetic Category: Syndromic-Rare single gene variant--Functional-Genetic association
Associated Syndrome(s): Cohen syndrome
Aliases: CHS1, COH1, DKFZp313I0811, KIAA0532
Chromosome No: 8
Chromosome Band: 8q22.2
Genetic Category: Syndromic-Rare single gene variant--Functional-Genetic association
Associated Syndrome(s): Cohen syndrome
Summary Statistics:
ASD Reports: 29
Recent Reports: 3
Annotated variants: 85
Associated CNVs: 4
Evidence score: 4
ASD Reports: 29
Recent Reports: 3
Annotated variants: 85
Associated CNVs: 4
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the VPS13B gene have been identified with Cohen syndrome (Kolehmainen et al., 2003).
Molecular Function
This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and ...
Cohen syndrome
ASD
Positive Association
Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder
ASD subphenotype (ADOS-3 Stereotyped Behaviors and
Support
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
ID
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
ID, ADHD
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
Support
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...
ASD
ID, epilepsy
Support
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
DD, ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
ID
Microcephaly
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
DD, ID
ASD
Support
Diagnostic exome sequencing in persons with severe intellectual disability.
ID
Epilepsy, ASD
Support
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Cohen syndrome
DD, ID, autistic features
Support
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
ASD
Support
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
DD, ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Microcephaly
DD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
Cohen syndrome
ASD
Support
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite ou...
Recent Recommendation
Using whole-exome sequencing to identify inherited causes of autism.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN281R001
frameshift_variant
c.3348_3349del
p.Cys1117PhefsTer8
Unknown
Unknown
GEN281R002a
frameshift_variant
c.3348_3349del
p.Cys1117PhefsTer8
Unknown
Unknown
GEN281R004a
frameshift_variant
c.4572dup
p.Glu1525ArgfsTer45
Unknown
Unknown
GEN281R007a
frameshift_variant
c.5426_5427dup
p.Gln1810SerfsTer21
Unknown
Unknown
GEN281R008
frameshift_variant
c.6420_6421del
p.Gln2140HisfsTer28
Unknown
Unknown
GEN281R010a
missense_variant
c.7441G>A
p.Val2481Ile
Familial
Both parents
Simplex
GEN281R012a
frameshift_variant
c.11827_11828insC
p.Gly3943AlafsTer49
Familial
Both parents
Simplex
GEN281R013a
missense_variant
c.2470T>G
p.Ser824Ala
Familial
Both parents
Simplex
GEN281R018
missense_variant
c.8978A>G
p.Asn2993Ser
Familial
Extended multiplex (at least one pair of ASD affec
GEN281R020
stop_gained
c.10223C>G
p.Ser3408Ter
Familial
Paternal
Multiplex
GEN281R021a
missense_variant
c.9667C>T
p.Arg3223Trp
Familial
Both parents
Multiplex
GEN281R022
missense_variant
c.9592C>T
p.Gln3198Ter
Familial
Unknown
Multiplex
GEN281R038a
copy_number_loss
Familial
Both parents
Simplex
GEN281R039a
splice_site_variant
ENST00000395996:c.*2515+1G>A
Familial
Maternal and paternal
Simplex
GEN281R039b
frameshift_variant
c.401dup
p.Asp134GlufsTer12
Familial
Paternal
Simplex
GEN281R041a
frameshift_variant
c.6879del
p.Phe2293LeufsTer24
Familial
Both parents
Extended multiplex
GEN281R042a
frameshift_variant
c.6879del
p.Phe2293LeufsTer24
Familial
Both parents
Multiplex
GEN281R044a
initiator_codon_variant
c.3G>A
p.Met1?
Familial
Both parents
Multiplex
GEN281R046a
stop_gained
c.5590C>T
p.Gln1864Ter
Familial
Both parents
Extended multiplex
GEN281R048
frameshift_variant
c.12042_12045del
p.Asn4014LysfsTer3
Familial
Simplex
GEN281R056a
splice_region_variant
c.8868-3C>G
Both parents
Multi-generational
GEN281R060
frameshift_variant
c.1000del
p.Tyr334IlefsTer24
Familial
Paternal
Multiplex
GEN281R061
frameshift_variant
c.5752_5753del
p.Leu1918Ter
Familial
Maternal
Multiplex
GEN281R063
frameshift_variant
c.9793dup
p.Met3265AsnfsTer8
Familial
Maternal
Multiplex
GEN281R064b
frameshift_variant
c.11906_11916delinsG
p.His3969ArgfsTer16
Familial
GEN281R065a
frameshift_variant
c.6073_6074del
p.Pro2025ThrfsTer9
Familial
Maternal
GEN281R065b
frameshift_variant
c.10551_10552del
p.Cys3517Ter
Familial
Paternal
GEN281R070
frameshift_variant
c.3092del
p.Pro1031HisfsTer10
Familial
Maternal
Multiplex
GEN281R071
frameshift_variant
c.3360_3361insC
p.Ile1121HisfsTer5
Familial
Paternal
Multiplex
GEN281R072
stop_gained
c.6802G>T
p.Glu2268Ter
Familial
Paternal
Extended multiplex
GEN281R074b
frameshift_variant
c.11774_11777dup
p.Val3928HisfsTer12
Familial
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN281C001
intron_variant
A>G
3833 individuals from the MSSNG and iHART cohorts
Discovery
GEN281C002
intron_variant
G>T
3834 individuals from the MSSNG and iHART cohorts
Discovery
