MESTIT1

ncRNA

MEST intronic transcript 1, antisense RNA, the group of Long non-coding RNAs with non-systematic symbols

Gene summary

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]

Previous symbols:

MEST-IT1

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr7:130,486,042-130,491,033

External References & Databases

Ensembl (ENSG00000272701)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MESTIT1 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.: N
Indispensability score: 0.231