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SETDB2-PHF11

Chr 13

SETDB2-PHF11 readthrough

NCBI Gene: 107303344OMIM: 607865

This gene represents a naturally-occurring readthrough transcript between SETDB2 and PHF11 that may encode fusion proteins or candidates for nonsense-mediated decay. Currently, no specific diseases have been definitively associated with mutations in this readthrough transcript. The clinical significance and inheritance pattern of variants in this transcript remain unclear due to limited functional and phenotypic data.

OMIMResearchSummary from RefSeq
Clinical Summary— SETDB2-PHF11
📋
ClinVar Variants
32 unique Pathogenic / Likely Pathogenic· 112 VUS of 198 total submissions
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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SETDB2-PHF11?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

198 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
VUS112
Likely Benign9
Benign7
32
Pathogenic
112
VUS
9
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
32
0
32
Likely Pathogenic
0
0
0
0
0
VUS
0
110
2
0
112
Likely Benign
1
5
1
2
9
Benign
0
2
3
2
7
Total1117384160

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

View in ClinVar →

Protein Context — Lollipop Plot

SETDB2-PHF11 · 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 →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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