RBIS
protein-codingribosomal biogenesis factor, the group of Ribosomal biogenesis factors
Gene summary
Involved in ribosome biogenesis. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- C8orf59
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.4 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 RBIS variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001099673.3. 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 | 0 | |||||
| missense | 1 | 1 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 0 | 1 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001093143.1 | 3 | MANE Select | |
| Ensembl | ENSP00000484492.1 | 3 | MANE Select | |
| RefSeq | NP_001093140.1 | 3 | Standard | |
| RefSeq | NP_001093141.1 | 3 | Standard |
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000417663
- Coding exons
- 3
- Length
- 6340
- Individuals with no LoFs
- 124523
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 68
- Defined
- 124591
- p
- 0.000273
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.402 | 39 | 46.7 | 0.835 | 0.00000223 | 653 |
| Missense (PolyPhen) | 9 | 9.4468 | 0.95271 | 171 | ||
| Synonymous | 0.390 | 14 | 16.0 | 0.876 | 8.09e-7 | 166 |
| Loss of Function | 0.169 | 3 | 3.33 | 0.900 | 1.39e-7 | 53 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00021 | 0.00019 | rare |
| Latino/Admixed American | 0.000070 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00015 | 0.00014 | rare |
| European (Non-Finnish) | 0.00060 | 0.00050 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0.00054 | 0.00050 | rare |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- 0.28
- RVIS percentile EVS
- 70.87
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- H
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |