ANKRD13B
Chr 17ankyrin repeat domain 13B
Enables ubiquitin-modified protein reader activity. Involved in negative regulation of receptor internalization. Located in endosome; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— ANKRD13B
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
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ClinVar Variants
8 Pathogenic / Likely Pathogenic· 73 VUS of 82 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Missense constrained — critical functional residues
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.
0.42LOEUF
pLI 0.362
Z-score 3.98
OE 0.23 (0.13–0.42)
More LoF-intolerant than ~75% of genes
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.
3.20Z-score
OE missense 0.54 (0.48–0.60)
205 obs / 380.4 exp
Highly missense-constrained (top ~0.1%)
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.0.23 (0.13–0.42)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.54 (0.48–0.60)
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.0.83
0≤1.21.6
LoF obs/exp: 7 / 30.9Missense obs/exp: 205 / 380.4Syn Z: 1.67
ClinVar Variant Classifications
82 submitted variants in ClinVar
Classification Summary
Pathogenic7
Likely Pathogenic1
VUS73
Likely Benign1
7
Pathogenic
1
Likely Pathogenic
73
VUS
1
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 71 | 2 | 0 | 73 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 71 | 10 | 1 | 82 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ANKRD13B · 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
ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13B; ANKRD13B
MIM #615124 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Construction of a prognostic model for hepatocellular carcinoma based on necrosis by sodium overload-related genes and identification of ANKRD13B as a new prognostic marker.
Qu X et al.·Funct Integr Genomics
2025Functional
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
Integrative Bioinformatics Analysis Demonstrates the Prognostic Value of Chromatin Accessibility Biomarkers in Clear Cell Renal Cell Carcinoma
Meng M et al.·Front Oncol
2021
Identification TRIM46 as a Potential Biomarker and Therapeutic Target for Clear Cell Renal Cell Carcinoma Through Comprehensive Bioinformatics Analyses
Ren XB et al.·Front Med (Lausanne)
2021
A comprehensive multi-omics study reveals potential prognostic and diagnostic biomarkers for colorectal cancer.
Mahajan M et al.·Int J Biol Macromol
2025
Integrated Analysis of miR-7-5p-Related ceRNA Network Reveals Potential Biomarkers for the Clinical Outcome of Gastric Cancer
Shi MY et al.·J Oncol
2022
LncRNA-miRNA-mRNA Networks of Gastrointestinal Cancers Representing Common and Specific LncRNAs and mRNAs
Dastsooz H et al.·Front Genet
2022
Identification of Ubiquitin-Related Gene-Pair Signatures for Predicting Tumor Microenvironment Infiltration and Drug Sensitivity of Lung Adenocarcinoma
Li Y et al.·Cancers (Basel)
2022
Computational Analysis Identifies Novel Biomarkers for High-Risk Bladder Cancer Patients
Piliszek R et al.·Int J Mol Sci
2022Cohort
Iron Oxide Nanoparticles with and without Cobalt Functionalization Provoke Changes in the Transcription Profile via Epigenetic Modulation of Enhancer Activity
Gamberoni F et al.·Nano Lett
2023Functional
Regulation of Long Non-coding RNA KCNQ1OT1 Network in Colorectal Cancer Immunity
Liu J et al.·Front Genet
2021
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