C4ORF46

Chr 4

chromosome 4 open reading frame 46

Also known as: RCDG1

This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.76
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.76LOEUF
pLI 0.040
Z-score 0.46
OE 0.71 (0.281.76)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.24Z-score
OE missense 1.09 (0.891.35)
62 obs / 56.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.71 (0.281.76)
00.351.4
Missense OE?1.09 (0.891.35)
00.61.4
Synonymous OE?1.16
01.21.6
LoF obs/exp: 2 / 2.8Missense obs/exp: 62 / 56.9Syn Z: -0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C4ORF46 · 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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