FAM81B
protein-codingfamily with sequence similarity 81 member B
Gene summary
Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~59.1 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 FAM81B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152548.3. 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 | 1 | 1 | ||||
| missense | 68 | 4 | 72 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 72 | 4 | 0 | 76 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689761.2 | 10 | MANE Select | |
| Ensembl | ENSP00000283357.5 | 10 | MANE Select | |
| Ensembl | ENSP00000423296.1 | 3 | Standard | |
| Ensembl | ENSP00000424883.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- protein binding
Cellular Component
- nucleus
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000283357
- Coding exons
- 10
- Length
- 59111
- Individuals with no LoFs
- 118372
- Homozygous LoFs
- 97
- Heterozygous LoFs
- 6325
- Defined
- 124794
- p
- 0.0261
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.179 | 221 | 229 | 0.967 | 0.0000114 | 2995 |
| Missense (PolyPhen) | 53 | 56.796 | 0.93316 | 814 | ||
| Synonymous | 0.348 | 79 | 83.0 | 0.951 | 0.00000440 | 781 |
| Loss of Function | 1.01 | 20 | 25.5 | 0.784 | 0.00000128 | 316 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.015 | 0.015 | notable |
| Latino/Admixed American | 0.019 | 0.019 | notable |
| Ashkenazi Jewish | 0.053 | 0.053 | notable |
| East Asian | 0.00029 | 0.00028 | rare |
| Finnish | 0.012 | 0.012 | notable |
| European (Non-Finnish) | 0.036 | 0.035 | notable |
| South Asian | 0.022 | 0.022 | notable |
| Other | 0.030 | 0.030 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.864
- RVIS EVS
- 0.44
- RVIS percentile EVS
- 77.85
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.00179
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |