MOV10 |
- 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
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.44(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
ClinGen Curation ID:
CCID:007479
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)