FAM209B
protein-codingfamily with sequence similarity 209 member B
Gene summary
Predicted to be involved in acrosome assembly. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Jul 2025]
- C20orf107
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.3 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 FAM209B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001013646.4. 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 | 19 | 3 | 22 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 20 | 3 | 0 | 23 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001013668.2 | 2 | MANE Select | |
| Ensembl | ENSP00000360376.1 | 2 | MANE Select | |
| Ensembl | ENSP00000771640.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- nucleus
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000371325
- Coding exons
- 2
- Length
- 3275
- Individuals with no LoFs
- 123621
- Homozygous LoFs
- 80
- Heterozygous LoFs
- 2046
- Defined
- 125747
- p
- 0.00849
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.453 | 79 | 91.2 | 0.867 | 0.00000502 | 1113 |
| Missense (PolyPhen) | 27 | 33.104 | 0.8156 | 451 | ||
| Synonymous | -0.0231 | 35 | 34.8 | 1.00 | 0.00000207 | 325 |
| Loss of Function | -0.511 | 5 | 3.91 | 1.28 | 1.70e-7 | 40 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0085 | 0.0043 | notable |
| Latino/Admixed American | 0.019 | 0.0092 | notable |
| Ashkenazi Jewish | 0.024 | 0.012 | notable |
| East Asian | 0.0045 | 0.0022 | notable |
| Finnish | 0.0021 | 0.0013 | notable |
| European (Non-Finnish) | 0.020 | 0.0097 | notable |
| South Asian | 0.024 | 0.012 | notable |
| Other | 0.030 | 0.015 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- 0.9
- RVIS percentile EVS
- 89.39
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |