Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

ANKRD20A4-ANKRD20A20P

Chr 9

ANKRD20A4-ANKRD20A20P readthrough

NCBI Gene: 110006327

This locus produces readthrough transcripts between ANKRD20A4 and a pseudogene that are expected to undergo nonsense-mediated decay and are unlikely to produce functional proteins. No disease associations have been established for mutations in this readthrough transcript region. The clinical significance of variants in this locus remains unclear.

ResearchSummary from RefSeq
Clinical Summary— ANKRD20A4-ANKRD20A20P
📋
ClinVar Variants
20 unique Pathogenic / Likely Pathogenic of 25 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ANKRD20A4-ANKRD20A20P?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

25 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
Likely Benign4
Benign1
19
Pathogenic
1
Likely Pathogenic
4
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
1
0
1
VUS
0
0
0
0
0
Likely Benign
0
0
4
0
4
Benign
0
0
1
0
1
Total0025025

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

View in ClinVar →

Protein Context — Lollipop Plot

ANKRD20A4-ANKRD20A20P · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →

No publications found for ANKRD20A4-ANKRD20A20P

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients