YJU2
protein-codingYJU2 splicing factor homolog
Gene summary
Predicted to enable metal ion binding activity. Predicted to contribute to first spliceosomal transesterification activity. Predicted to be involved in mRNA cis splicing, via spliceosome and negative regulation of DNA damage response, signal transduction by p53 class mediator. Part of U2-type catalytic step 1 spliceosome. [provided by Alliance of Genome Resources, Jun 2026]
- CCDC94
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~22.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to YJU2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_018074.6. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 50 | 2 | 52 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 55 | 2 | 1 | 58 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_060544.2 | 8 | MANE Select | |
| Ensembl | ENSP00000262962.6 | 8 | MANE Select | |
| Ensembl | ENSP00000472772.1 | 4 | Standard | |
| Ensembl | ENSP00000542397.1 | 8 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| yju2 | Danio rerio | Structure: post-vent region Quality: curved abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- mRNA processing
- RNA splicing
- negative regulation of DNA damage response, signal transduction by p53 class mediator
Molecular Function
- protein binding
Cellular Component
- U2-type catalytic step 1 spliceosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000262962
- Coding exons
- 8
- Length
- 22012
- Individuals with no LoFs
- 125729
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 17
- Defined
- 125746
- p
- 0.0000676
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.52 | 142 | 203 | 0.699 | 0.0000129 | 2087 |
| Missense (PolyPhen) | 31 | 63.037 | 0.49178 | 710 | ||
| Synonymous | -0.0510 | 89 | 88.4 | 1.01 | 0.00000593 | 610 |
| Loss of Function | 1.27 | 12 | 17.8 | 0.676 | 9.39e-7 | 199 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00032 | 0.00031 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.000064 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000084 | 0.000079 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Part of the catalytic step I spliceosome, C complex (PubMed:29301961). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex (PubMed:22952453). {ECO:0000269|PubMed:22952453, ECO:0000269|PubMed:29301961}.;
Intolerance Scores
- RVIS EVS
- -0.49
- RVIS percentile EVS
- 22.36
Essentials
- Essential (gene trap)
- E