YJU2B
Chr 19YJU2 splicing factor homolog B
Also known as: CCDC130
Involved in response to virus. Predicted to be located in nucleus. Predicted to be part of U2-type spliceosomal complex and post-mRNA release spliceosomal complex. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.003
Z-score 2.26
OE 0.41 (0.23–0.77)
Typical tolerance to LoF variation
Missense Constraint?
0.53Z-score
OE missense 0.91 (0.82–1.01)
240 obs / 264.1 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.41 (0.23–0.77)
0≤0.351.4
Missense OE?0.91 (0.82–1.01)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 7 / 17.1Missense obs/exp: 240 / 264.1Syn Z: -0.58
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
YJU2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
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