• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HIVEP3 (HGNC:13561) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
HIVEP zinc finger 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C
%HI
41.45(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.91(Read more about gnomAD pLI score)
LOEUF
0.31(Read more about gnomAD LOEUF score)
Cytoband
1p34.2
Genomic Coordinates
GRCh37/hg19: chr1:41972036-42501605 NCBI Ensembl UCSC
GRCh38/hg38: chr1:41506365-42035934 NCBI Ensembl UCSC
MANE Select Transcript
NM_024503.5 ENST00000372583.6 (Read more about MANE Select)
Function
Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Binds also to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13273
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/23/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 29302074
    Hu et al. (2018) - Report on whole exome and whole genomes sequencing in 404 consanguineous Iranian families with two or more affected individuals. A single homozygous frameshift variant (p.Ser735Valfs*125) identified in a region of homozygosity reported. This family (#M8700057) had 3 affected individuals with moderate ID however unclear if they are stating that this variant segregates with phenotype. Parents are reported as first cousins. Per pedigree (pg64 of supplemental info), parents are denoted as unaffected however not clearly stated. HIVEP3 suggested as a novel autosomal recessive ID candidate gene.
  • PUBMED: 27824329
    Wang et al. (2016) - De novo single likely gene disrupting (sLGD) variant (c.1753dupC) reported (in supplemental data) in a cohort study of de novo genic mutations among a Chinese autism spectrum disorder cohort. Reported as a candidate gene. **This patient has the same identifier as the Iossifov et al (2014) paper that is listed as an additional report (a few overlapping authors) with the same de novo variant**
  • PUBMED: 25849321
    Li et al. (2016) - Study focusing on exonic de novo mutations shared across four neuropsychiatric disorders: autism spectrum disorder, epileptic encephalopathy, intellectual disability and schizophrenia, in addition to unaffected siblings (control), from 36 studies by WES/WGS [17,104 de novo mutations from 3,555 trios]. Two de novo nonsense variants reported: Q934X identified from a schizophrenia cohort (from Fromer et al, 2014) and Q2200X identified from an ASD cohort.
HI Evidence Comments:
Various disease associations - schizophrenia, autism, ID for LOF variants. Missense variants a/w very early onset inflammatory bowel disease. Not sure how to count the Hu et al paper suggesting this as an ARID candidate gene with parents being carriers and not documented as affected. gnomad pLI = 0.88/ExAC pLi = 0.03. LOF variants smattered along protein (no-hot spots)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)