FAAP100
Chr 17ARFA core complex associated protein 100
Also known as: C17orf70, FANCX
FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
Primary Disease Associations & Inheritance
Fanconi anemia, complementation group XMIM #621258
AR
187
ClinVar variants
23
Pathogenic / LP
0.00
pLI score
0.7
Missense Z
0.74
LOEUF
0
Active trials
Clinical Summary— FAAP100
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
23 Pathogenic / Likely Pathogenic· 150 VUS of 187 total submissions
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Open GeneReview ↗GeneReview available — FAAP100
Authoritative clinical overview · Recommended first read
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FAAP100?content-type=application/json&expand=1
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.
0.74LOEUF
pLI 0.000
Z-score 2.59
OE 0.46 (0.29–0.74)
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.
0.69Z-score
OE missense 0.91 (0.85–0.99)
472 obs / 516.3 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.0.46 (0.29–0.74)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.91 (0.85–0.99)
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.1.20
0≤1.21.6
LoF obs/exp: 12 / 26.3Missense obs/exp: 472 / 516.3Syn Z: -2.51
ClinVar Variant Classifications
187 submitted variants in ClinVar
Classification Summary
Pathogenic19
Likely Pathogenic4
VUS150
Likely Benign12
Benign2
19
Pathogenic
4
Likely Pathogenic
150
VUS
12
Likely Benign
2
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 1 | 17 | 0 | 19 |
Likely Pathogenic | 1 | 0 | 3 | 0 | 4 |
VUS | 0 | 146 | 4 | 0 | 150 |
Likely Benign | 0 | 12 | 0 | 0 | 12 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 2 | 159 | 26 | 0 | 187 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAAP100 · 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
FA CORE COMPLEX-ASSOCIATED PROTEIN 100; FAAP100
MIM #611301 · *
Autosomal recessive
External Resources
Links to major genomics databases and tools
📖
Open GeneReview ↗GeneReview available — FAAP100
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
FAAP100:A biomarker based on pan-cancer analysis, promotes the progression of lung adenocarcinoma.
Wu D et al.·Cell Signal
2025
Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.
Kuehl J et al.·J Clin Invest
2025
Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.
He W et al.·Nat Commun
2025Meta-analysis
Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights.
Thompson LH et al.·Mutat Res
2009Review
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
Ali AM et al.·Hum Mutat
2009Case report
The radiotherapy-sensitization effect of cantharidin: Mechanisms involving cell cycle regulation, enhanced DNA damage, and inhibited DNA damage repair.
Xu MD et al.·Pancreatology
2018Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
Harrison BA et al.·J Clin Invest
2025Open Access
FAAP100 is required for the resolution of transcription-replication conflicts in primordial germ cells.
Xu W et al.·BMC Biol
2023Open Access
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Genomic comparisons and the adaptive basis of brain size plasticity and chromosomal instability in the Eurasian common shrew
Thomas WR et al.·Mol Biol Evol
2026
Whole-Genome Sequencing Analyses Reveal the Whip-like Tail Formation, Innate Immune Evolution, and DNA Repair Mechanisms of Eupleurogrammus muticus
Han FY et al.·Animals (Basel)
2024Functional
Somatic gene mutations involved in DNA damage response/Fanconi anemia signaling are tissue- and cell-type specific in human solid tumors
Rai SK et al.·Front Med (Lausanne)
2024
Top 4 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