CCHCR1

Chr 6

coiled-coil alpha-helical rod protein 1

Also known as: C6orf18, HCR, SBP, pg8

NCBI Gene: 54535ENSG00000204536UniProt: Q8TD31

This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.43
OE 0.64 (0.49–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.91Z-score
OE missense 0.76 (0.70–0.83)
384 obs / 504.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.49–0.85)
0≤0.351.4
Missense OE?0.76 (0.70–0.83)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 34 / 53.1Missense obs/exp: 384 / 504.5Syn Z: 3.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCHCR1 · 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