MOV10L1

Chr 22AR

Mov10 like RNA helicase 1

Also known as: CHAMP, DJ402G11.8, SPGF73

NCBI Gene: 54456ENSG00000073146UniProt: Q9BXT6OMIM: 605794

This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Spermatogenic failure 73MIM #619878
AR
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 3.07
OE 0.59 (0.45–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.18Z-score
OE missense 0.87 (0.82–0.93)
602 obs / 689.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.45–0.77)
0≤0.351.4
Missense OE?0.87 (0.82–0.93)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 38 / 64.6Missense obs/exp: 602 / 689.1Syn Z: -0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MOV10L1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients