KLHDC7B

Chr 22

kelch domain containing 7B

NCBI Gene: 113730ENSG00000130487UniProt: Q96G42
288
ClinVar variants
145
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— KLHDC7B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
145 Pathogenic / Likely Pathogenic· 121 VUS of 288 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
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.
1.51LOEUF
pLI 0.000
Z-score 0.11
OE 0.97 (0.64–1.51)
Tolerant

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.
1.19Z-score
OE missense 0.83 (0.75–0.91)
307 obs / 371.3 exp
Tolerant

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.0.97 (0.64–1.51)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.75–0.91)
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.0.93
0≤1.21.6
LoF obs/exp: 14 / 14.5Missense obs/exp: 307 / 371.3Syn Z: 0.78

ClinVar Variant Classifications

288 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic144
Likely Pathogenic1
VUS121
Likely Benign20
Benign2
144
Pathogenic
1
Likely Pathogenic
121
VUS
20
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
144
0
144
Likely Pathogenic
0
0
1
0
1
VUS
0
106
15
0
121
Likely Benign
0
11
2
7
20
Benign
0
0
2
0
2
Total01171647288

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

View in ClinVar →

Protein Context — Lollipop Plot

KLHDC7B · 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

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
A prognostic and immunological analysis of 7B-containing Kelch structural domain (KLHDC7B) in pan-cancer: a potential target for immunotherapy and survival.
Ding J et al.·J Cancer Res Clin Oncol
2023
Rare-variant association analysis reveals known and new age-related hearing loss genes.
Cornejo-Sanchez DM et al.·Eur J Hum Genet
2023
KLHDC7B as a novel diagnostic biomarker in urine exosomal mRNA promotes bladder urothelial carcinoma cell proliferation and migration, inhibits apoptosis.
Hou J et al.·Mol Carcinog
2024
Identification and validation of molecular subtypes and a 9-gene risk model for breast cancer.
Feng J·Medicine (Baltimore)
2023Functional
The alternatively spliced diacylglycerol kinase gamma-Δ exon13 transcript generated under hypoxia promotes glioblastoma progression.
Yang M et al.·Oncol Res
2025
The Role of PANoptosis-Related Genes in Predicting Breast Cancer Survival and Immune Prospect.
Zhang Y et al.·Biomed Res Int
2025
Development and clinical validation of a novel 9-gene prognostic model based on multi-omics in pancreatic adenocarcinoma.
Xu D et al.·Pharmacol Res
2021Functional
Missing links - epigenetic regulators of the pancreatic cancer-associated inflammation.
Werba G et al.·Clin Sci (Lond)
2021
RNA-sequencing analysis of 5' capped RNAs identifies many new differentially expressed genes in acute hepatitis C virus infection.
Papic N et al.·Viruses
2012
Prognostic model based on six PD-1 expression and immune infiltration-associated genes predicts survival in breast cancer.
Junjun S et al.·Breast Cancer
2022Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools