DUS4L-BCAP29

Chr 7

DUS4L-BCAP29 readthrough

This locus represents naturally occurring readthrough transcription between the neighboring DUS4L (dihydrouridine synthase 4 like) and BCAP29 (B cell receptor associated protein 29) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2019]

69
ClinVar variants
6
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryDUS4L-BCAP29
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 46 VUS of 69 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

69 submitted variants in ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS46
Likely Benign13
Benign1
Conflicting3
5
Pathogenic
1
Likely Pathogenic
46
VUS
13
Likely Benign
1
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
0
33
13
0
46
Likely Benign
0
0
13
0
13
Benign
0
0
1
0
1
Conflicting
3
Total03333069

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

View in ClinVar →

Protein Context — Lollipop Plot

DUS4L-BCAP29 · 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.

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →