YTHDC2

Chr 5

YTH N6-methyladenosine RNA binding protein C2

Also known as: CAHL, hYTHDC2

This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
81
Pubs (1 yr)
P/LP submissions
P/LP missense
0.13
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.13LOEUF
pLI 1.000
Z-score 7.78
OE 0.06 (0.030.13)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
0.33Z-score
OE missense 0.97 (0.911.03)
712 obs / 736.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.06 (0.030.13)
00.351.4
Missense OE?0.97 (0.911.03)
00.61.4
Synonymous OE?1.18
01.21.6
LoF obs/exp: 5 / 80.1Missense obs/exp: 712 / 736.8Syn Z: -2.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

YTHDC2 · 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

No active trials found for this gene.

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