BBOF1
protein-codingbasal body orientation factor 1
Gene summary
Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]
- C14orf45
- CCDC176
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~63.5 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 BBOF1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_025057.3. 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 | 2 | 2 | 4 | |||
| missense | 58 | 1 | 59 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 62 | 3 | 0 | 65 |
Highest pathogenic variant AF is 0.000046047793
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_079333.2 | 12 | MANE Select | |
| Ensembl | ENSP00000377577.3 | 12 | MANE Select | |
| Ensembl | ENSP00000480689.1 | 2 | Standard | |
| Ensembl | ENSP00000451659.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- motile cilium assembly
Cellular Component
- cytoplasm
- ciliary basal body
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000394009
- Coding exons
- 12
- Length
- 63511
- Individuals with no LoFs
- 125613
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 135
- Defined
- 125748
- p
- 0.000537
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.05 | 203 | 250 | 0.813 | 0.0000114 | 3516 |
| Missense (PolyPhen) | 51 | 76.843 | 0.66369 | 1145 | ||
| Synonymous | 0.887 | 75 | 85.4 | 0.878 | 0.00000397 | 875 |
| Loss of Function | 0.422 | 26 | 28.4 | 0.915 | 0.00000136 | 388 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00050 | 0.00043 | rare |
| Latino/Admixed American | 0.00068 | 0.00064 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.00062 | 0.00054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00091 | 0.00072 | rare |
| South Asian | 0.00031 | 0.00029 | rare |
| Other | 0.00072 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity). {ECO:0000250}.;
Intolerance Scores
- RVIS EVS
- 1.42
- RVIS percentile EVS
- 94.89
Essentials
- Essential (gene trap)
- N