HIVEP3
Homo sapiens
Gene Name: human immunodeficiency virus type I enhancer binding protein 3
Aliases: KBP-1, KBP1, KRC, SHN3, Schnurri-3, ZAS3, ZNF40C
Chromosome No: 1
Chromosome Band: 1p34.2
Genetic Category: Rare single gene variant-Genetic association
Aliases: KBP-1, KBP1, KRC, SHN3, Schnurri-3, ZAS3, ZNF40C
Chromosome No: 1
Chromosome Band: 1p34.2
Genetic Category: Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 5
Evidence score: 3
ASD Reports: 9
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
A de novo loss-of-function (LoF) variant in the HIVEP3 gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second ASD-associated de novo LOF variant was identified in two probands (suspected twins) from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.
Molecular Function
This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
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
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN870R002
stop_gained
c.6601C>T
p.Gln2201Ter
De novo
Multiplex (monozygotic twins)
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN870C001
intron_variant
rs2786484
c.-721+84175G>A;c.-801+84175G>A
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