MESTIT1
Chr 7MEST intronic transcript 1, antisense RNA
Also known as: MEST-AS1, MEST-IT, MEST-IT1, NCRNA00040, PEG1-AS
This gene encodes a non-protein coding antisense RNA that is imprinted, and preferentially expressed from the paternal allele. It is located in an intron of MEST gene in the opposite orientation, and shares the promoter region in common with one of the promoters (P2) of MEST gene. The antisense RNA is expressed predominantly in testis and mature motile spermatozoa, suggesting that it may be involved in the regulation of MEST expression during development.[provided by RefSeq, Oct 2010]
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
30 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 22 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 7 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 30 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MESTIT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools