CFAP97D1
Chr 17CFAP97 domain containing 1
Also known as: C17orf105
Predicted to be involved in sperm axoneme assembly. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— CFAP97D1
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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.
1.22LOEUF
pLI 0.003
Z-score 1.15
OE 0.58 (0.30–1.22)
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.
1.05Z-score
OE missense 0.69 (0.57–0.85)
64 obs / 92.3 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.0.58 (0.30–1.22)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.69 (0.57–0.85)
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.0.59
0≤1.21.6
LoF obs/exp: 5 / 8.6Missense obs/exp: 64 / 92.3Syn Z: 1.88
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CFAP97D1 · 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
CFAP97 DOMAIN-CONTAINING PROTEIN 1; CFAP97D1
MIM #619866 · *
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Cfap97d1 is important for flagellar axoneme maintenance and male mouse fertility.
Oura S et al.·PLoS Genet
2020Functional
Top 10 resultsSearch PubMed ↗
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
A phylogenetic profiling approach identifies novel ciliogenesis genes in Drosophila and C. elegans
Dobbelaere J et al.·EMBO J
2023
TTC6-Mediated Stabilization of the Flagellum Annulus Ensures the Rapid and Directed Motion of Sperm
Wang Z et al.·Cells
2023
AXDND1, a novel testis-enriched gene, is required for spermiogenesis and male fertility
Ma Q et al.·Cell Death Discov
2021
Supplementing cholamine to diet lowers laying rate by promoting liver fat deposition and altering intestinal microflora in laying hens
Wu G et al.·Poult Sci
2022
Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI
Curtis D·Hum Hered
2025
IRGC1, a testis-enriched immunity related GTPase, is important for fibrous sheath integrity and sperm motility in mice
Kaneda Y et al.·Dev Biol
2022
Genome-wide association study for stayability at different calvings in Nellore beef cattle
Silva DO et al.·BMC Genomics
2024
Antiviral Effects of Adipose Tissue-Derived Mesenchymal Stem Cells Secretome against Feline Calicivirus and Feline Herpesvirus Type 1
Teshima T et al.·Viruses
2022
SESN1 functions as a new tumor suppressor gene via Toll-like receptor signaling pathway in neuroblastoma
Hua Z et al.·CNS Neurosci Ther
2024
Top 10 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools