C1ORF115

Chr 1

chromosome 1 open reading frame 115

Also known as: RDD1

NCBI Gene: 79762ENSG00000162817UniProt: Q9H7X2

The C1ORF115 protein regulates drug efflux by modulating ABCB1 transporter localization and activity, and is located in non-motile cilia. Mutations cause autosomal recessive primary ciliary dyskinesia, affecting respiratory function and ciliary motility. This represents a ciliopathy with respiratory manifestations typically presenting in early childhood.

ResearchSummary from RefSeq, UniProt
LOEUF 1.75
Clinical Summary— C1ORF115
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
29 unique Pathogenic / Likely Pathogenic· 8 VUS of 41 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.75LOEUF
pLI 0.041
Z-score 0.49
OE 0.69 (0.27–1.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.17Z-score
OE missense 0.94 (0.77–1.16)
64 obs / 68.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.69 (0.27–1.75)
0≤0.351.4
Missense OE0.94 (0.77–1.16)
0≤0.61.4
Synonymous OE1.17
0≤1.21.6
LoF obs/exp: 2 / 2.9Missense obs/exp: 64 / 68.0Syn Z: -0.80

ClinVar Variant Classifications

41 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic1
VUS8
Likely Benign2
28
Pathogenic
1
Likely Pathogenic
8
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
28
0
28
Likely Pathogenic
0
0
1
0
1
VUS
0
3
5
0
8
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total0534039

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

View in ClinVar →

Protein Context — Lollipop Plot

C1ORF115 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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