NIBAN3
Geneniban apoptosis regulator 3
Gene summary
No gene description available in the current model. Review primary literature for detailed gene function and characteristics.
- FAM129C
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~30.5 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 NIBAN3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001321827.2. 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 | 112 | 7 | 119 | |||
| nonsense | 0 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 116 | 7 | 0 | 123 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001308756.2 | 15 | MANE Select | |
| Ensembl | ENSP00000469225.1 | 15 | MANE Select | |
| RefSeq | NP_001091994.2 | 16 | Standard | |
| RefSeq | NP_001308755.2 | 15 | Standard |
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000335393
- Coding exons
- 16
- Length
- 30539
- Individuals with no LoFs
- 124463
- Homozygous LoFs
- 22
- Heterozygous LoFs
- 1263
- Defined
- 125748
- p
- 0.00512
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.595 | 373 | 407 | 0.917 | 0.0000251 | 4341 |
| Missense (PolyPhen) | 112 | 128.32 | 0.87283 | 1472 | ||
| Synonymous | 1.12 | 158 | 177 | 0.893 | 0.0000108 | 1504 |
| Loss of Function | 1.05 | 28 | 34.7 | 0.808 | 0.00000194 | 353 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0013 | 0.0012 | notable |
| Latino/Admixed American | 0.027 | 0.026 | notable |
| Ashkenazi Jewish | 0.0021 | 0.0021 | notable |
| East Asian | 0.011 | 0.010 | notable |
| Finnish | 0.00065 | 0.00065 | rare |
| European (Non-Finnish) | 0.00058 | 0.00056 | rare |
| South Asian | 0.0017 | 0.0017 | notable |
| Other | 0.0043 | 0.0042 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0841
Intolerance Scores
- LoFtool
- 0.977
- RVIS EVS
- 1.58
- RVIS percentile EVS
- 95.79
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.325
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |