HS3ST5
Homo sapiens
Gene Name: heparan sulfate (glucosamine) 3-O-sulfotransferase 5
Aliases: 3-OST-5, 3OST5, HS3OST5, NBLA04021
Chromosome No: 6
Chromosome Band: 6q21-q22.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases: 3-OST-5, 3OST5, HS3OST5, NBLA04021
Chromosome No: 6
Chromosome Band: 6q21-q22.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
ASD Reports: 8
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the HS3ST5 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
sulfotransferases
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Highly Cited
Characterization of a heparan sulfate 3-O-sulfotransferase-5, an enzyme synthesizing a tetrasulfated disaccharide.
Recent Recommendation
The heparin/heparan sulfate sequence that interacts with cyclophilin B contains a 3-O-sulfated N-unsubstituted glucosamine residue.
Recent Recommendation
The principal neuronal gD-type 3-O-sulfotransferases and their products in central and peripheral nervous system tissues.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN125R001
frameshift_variant
c.167_168del
p.Phe56SerfsTer8
Familial
Paternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN125C002
intergenic_variant
rs9384952
Discovery cohort: 2165 participants from AGRE
Discovery
GEN125C003
intron_variant
rs9387201
c.-339+55216C>G;c.-339+54393C>G;c.-335+54393C>G;c.-335+55216C>G
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
GEN125C004
intergenic_variant
rs760608
G>A
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
