KRTAP9-7
Chr 17keratin associated protein 9-7
Also known as: KAP9.7, KRTAP9L1
Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— KRTAP9-7
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
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ClinVar Variants
7 Pathogenic / Likely Pathogenic· 1 VUS of 10 total submissions
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.
1.88LOEUF
pLI 0.302
Z-score 0.41
OE 0.00 (0.00–1.88)
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.
-0.61Z-score
OE missense 1.18 (1.01–1.40)
103 obs / 87.0 exp
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.0.00 (0.00–1.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.18 (1.01–1.40)
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.1.81
0≤1.21.6
LoF obs/exp: 0 / 0.2Missense obs/exp: 103 / 87.0Syn Z: -3.61
ClinVar Variant Classifications
10 submitted variants in ClinVar
Classification Summary
Pathogenic7
VUS1
Likely Benign2
7
Pathogenic
1
VUS
2
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 7 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 0 |
| Total | — | 10 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KRTAP9-7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
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
Ancient lineages of the keratin-associated protein (KRTAP) genes and their co-option in the evolution of the hair follicle
Litman T et al.·BMC Ecol Evol
2023
Expression network analysis of bovine skin infested with Rhipicephalus australis identifies pro-inflammatory genes contributing to tick susceptibility
Mantilla Valdivieso EF et al.·Sci Rep
2024
Identification of the key proteins associated with different hair types in sheep and goats
Zhang C et al.·Front Genet
2022
Non-invasive prediction of fetal growth restriction by whole-genome promoter profiling of maternal plasma DNA: a nested case-control study
Xu C et al.·BJOG
2021
Population differentiated copy number variation of Bos taurus, Bos indicus and their African hybrids
Jang J et al.·BMC Genomics
2021
Phase II Clinical and Translational Study of Everolimus +- Paclitaxel as First-Line Therapy in Cisplatin-Ineligible Advanced Urothelial Carcinoma
Jun T et al.·Oncologist
2022
The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes
Zhou H et al.·Int J Mol Sci
2021
Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements
Hintze M et al.·Mamm Genome
2021
Profiling of gene fusion involving targetable genes in Chinese gastric cancer
Liu ZH et al.·World J Gastrointest Oncol
2022
Novel Biomarkers Reveal Mismatch Between Tissue and Serum Thyroid Hormone Status in Amiodarone-Induced Hyperthyroidism
Sinkó R et al.·J Clin Endocrinol Metab
2024
Top 10 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