• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MOV10 (HGNC:7200) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Mov10 RISC complex RNA helicase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
gb110, MGC2948, fSAP113
%HI
45.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.81(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
1p13.2
Genomic Coordinates
GRCh37/hg19: chr1:113216934-113243368 NCBI Ensembl UCSC
GRCh38/hg38: chr1:112674439-112700739 NCBI Ensembl UCSC
MANE Select Transcript
NM_001321324.2 ENST00000369645.6 (Read more about MANE Select)
Function
5' to 3' RNA helicase that is involved in a number of cellular roles ranging from mRNA metabolism and translation, modulation of viral infectivity, inhibition of retrotransposition, or regulation of synaptic transmission (PubMed:23093941). Plays an important role in innate antiviral immunity by promoting type I interferon production (PubMed:27016603, PubMed:35157734, PubMed:27974568). Mechanistically, specifically uses IKKepsilon/IKBKE as the mediator kinase for IRF3 activation (PubMed:27016603,... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23726
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/12/2019

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 24463507
    Fromer M et al. (2014) Large whole exome sequencing study of de novo mutations in schizophrenia to date, based upon genomic (blood) DNA from 623 schizophrenia trios. Confirmed de novo frameshift in female (patient ID 2274-1) with schizophrenia (see supplemental). Variant nomenclature not reported.
  • PUBMED: 25363768
    Iossifov I et al. (2014) Large whole exome sequencing from more than 2,500 simplex families each having a child with an autistic spectrum disorder (ASD). Confirmed de novo frameshift in male and female sibling (family ID 12473) with ASD (see supplemental). Variant nomenclature not reported, report also includes a de novo missense.
  • PUBMED: 27824329
    Wang T et al. (2016) Large sequencing study using single-molecule molecular inversion probes (smMIPs) in 189 risk genes in 1,542 Chinese probands with ASD. Maternally inherited frameshift (ID SKLMG_M08563) (c.3012_*3dup) in proband with ASD, and a maternally inherited missense (ID SKLMG_M21013) (c.2501G>A, p.Arg834Gln) in proband with ASD.

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)