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]

123
ClinVar variants
7
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CCHCR1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 103 VUS of 123 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.85LOEUF
pLI 0.000
Z-score 2.43
OE 0.64 (0.49–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.91Z-score
OE missense 0.76 (0.70–0.83)
384 obs / 504.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.64 (0.49–0.85)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.76 (0.70–0.83)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.73
0≤1.21.6
LoF obs/exp: 34 / 53.1Missense obs/exp: 384 / 504.5Syn Z: 3.01

ClinVar Variant Classifications

123 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic3
VUS103
Likely Benign9
Benign4
4
Pathogenic
3
Likely Pathogenic
103
VUS
9
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
3
0
3
VUS
1
99
3
0
103
Likely Benign
0
8
0
1
9
Benign
0
4
0
0
4
Total1111101123

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Cell cycle regulation of the psoriasis associated gene CCHCR1 by transcription factor E2F1.
Ling YH et al.·PLoS One
2023
Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.
Tervaniemi MH et al.·BMC Genomics
2018
Clinical associations of the risk alleles of HLA-Cw6 and CCHCR1*WWCC in psoriasis.
Suomela S et al.·Acta Derm Venereol
2007
A genome-wide meta-analysis of palmoplantar pustulosis implicates T(H)2 responses and cigarette smoking in disease pathogenesis.
Hernandez-Cordero A et al.·J Allergy Clin Immunol
2024Meta-analysis
Identification of a Risk Allele at SLC41A3 and a Protective Allele HLA-DPB1*02:01 Associated with Sarcopenia in Japanese.
Furutani M et al.·Gerontology
2025
Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing.
Liu L et al.·Addict Biol
2025
Metabolites downstream of predicted loss-of-function variants inform relationship to disease.
Li M et al.·Mol Genet Metab
2019
Mapping and identifying genes for asthma and psoriasis.
Kere J·Philos Trans R Soc Lond B Biol Sci
2005Review
Influence of pharmacogenomic polymorphisms on allopurinol-induced cutaneous adverse drug reactions in Thai patients.
Sornsamdang G et al.·BMC Med Genomics
2024Cohort
Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.
Chantarangsu S et al.·Clin Infect Dis
2011
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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