C17ORF47
Chr 17ARADchromosome 17 open reading frame 47
Primary Disease Associations & Inheritance
Spermatogenic failure 99MIM #621194
AR
Spermatogenic failure 99MIM #621194
AR
Spermatogenic failure 3MIM #606766
ADAR
Clinical Summary— C17ORF47
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
14 Pathogenic / Likely Pathogenic· 3 VUS of 19 total submissions
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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.
0.83LOEUF
pLI 0.000
Z-score 2.17
OE 0.50 (0.31–0.83)
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.
0.77Z-score
OE missense 0.88 (0.79–0.97)
270 obs / 308.0 exp
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.0.50 (0.31–0.83)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.79–0.97)
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.0.95
0≤1.21.6
LoF obs/exp: 11 / 22.0Missense obs/exp: 270 / 308.0Syn Z: 0.43
ClinVar Variant Classifications
19 submitted variants in ClinVar
Classification Summary
Pathogenic12
Likely Pathogenic2
VUS3
Likely Benign2
12
Pathogenic
2
Likely Pathogenic
3
VUS
2
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 12 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 1 | 2 | 0 | 3 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 3 | 16 | 0 | 19 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C17ORF47 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
3 OMIM entries
SPERMATOGENIC FAILURE 99; SPGF99
MIM #621194 · #
Autosomal recessive
SEPTIN 4; SEPTIN4
MIM #603696 · *
Autosomal recessive
Autosomal dominantAutosomal recessive
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Uncharacterized Proteins CxORFx: Subinteractome Analysis and Prognostic Significance in Cancers
Ershov P et al.·Int J Mol Sci
2023
Mutation-based clustering and classification analysis reveals distinctive age groups and age-related biomarkers for glioma
Jean-Quartier C et al.·BMC Med Inform Decis Mak
2021
Quantitative proteome analysis of Merkel cell carcinoma cell lines using SILAC
Kotowski U et al.·Clin Proteomics
2019
Cell cycle-related lncRNAs and mRNAs in osteoarthritis chondrocytes in a Northwest Chinese Han Population
Zhang F et al.·Medicine (Baltimore)
2020
Cilia interactome with predicted protein-protein interactions reveals connections to Alzheimer's disease, aging and other neuropsychiatric processes
Karunakaran KB et al.·Sci Rep
2020
Effects of Sphingosine-1-Phosphate on Cell Viability, Differentiation, and Gene Expression of Adipocytes
Wu X et al.·Int J Mol Sci
2020
Using multi-way admixture mapping to elucidate TB susceptibility in the South African Coloured population
Daya M et al.·BMC Genomics
2014
Use case driven evaluation of open databases for pediatric cancer research
Jeanquartier F et al.·BioData Min
2019
Utility of Circulating Cell-Free RNA Analysis for the Characterization of Global Transcriptome Profiles of Multiple Myeloma Patients
Chen M et al.·Cancers (Basel)
2019Cohort
Top 9 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools