C17ORF67

Chr 17

chromosome 17 open reading frame 67

NCBI Gene: 339210UniProt: Q0P5P2

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
15
ClinVar variants
13
Pathogenic / LP
-0.2
Missense Z
1.90
LOEUF
0
Pubs (2 yr)
Clinical Summary— C17ORF67
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 2 VUS of 15 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C17ORF67?content-type=application/json&expand=1

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.
1.90LOEUF
pLI 0.000
Z-score -0.63
OE 1.29 (0.71–1.90)
Tolerant

Highly tolerant — LoF variants common in population

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.
-0.20Z-score
OE missense 1.08 (0.87–1.34)
59 obs / 54.8 exp
Tolerant

Tolerant to missense variation

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.1.29 (0.71–1.90)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.08 (0.87–1.34)
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.1.10
0≤1.21.6
LoF obs/exp: 7 / 5.4Missense obs/exp: 59 / 54.8Syn Z: -0.39

ClinVar Variant Classifications

15 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
VUS2
13
Pathogenic
2
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————13
Likely Pathogenic
————0
VUS
————2
Likely Benign
————0
Benign
————0
Total—15

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C17ORF67 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Preliminary study of genome-wide association identified novel susceptibility genes for thyroid-related hormones in Chinese population.
Huang L et al.·Genes Genomics
2022
Genome-wide association study of neck circumference identifies sex-specific loci independent of generalized adiposity
Liu Y et al.·Int J Obes (Lond)
2021
Uncharacterized Proteins CxORFx: Subinteractome Analysis and Prognostic Significance in Cancers
Ershov P et al.·Int J Mol Sci
2023
Advancement in Human Face Prediction Using DNA
Alshehhi A et al.·Genes (Basel)
2023
Genome-wide association studies for canine hip dysplasia in single and multiple populations - implications and potential novel risk loci
Wang S et al.·BMC Genomics
2021
Screening and Identification of Differential Ovarian Proteins before and after Induced Ovulation via Seminal Plasma in Bactrian Camels
Wang Q et al.·Animals (Basel)
2021
Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci
Laaksonen J et al.·Hum Mol Genet
2022
Genome-wide mapping of signatures of selection using a high-density array identified candidate genes for growth traits and local adaptation in chickens
Mastrangelo S et al.·Genet Sel Evol
2023
Identifying Human Specific Adverse Outcome Pathways of Per- and Polyfluoroalkyl Substances Using Liver-Chimeric Humanized Mice
Robarts DR et al.·bioRxiv
2023
Top 9 full-text resultsSearch PubTator3 ↗

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