BBOF1

basal body orientation factor 1

Basic information

Region (hg38): 14:74019349-74082863

Previous symbols: [ "C14orf45", "CCDC176" ]

Links

ENSG00000119636 ∙ NCBI:80127 ∙ ∙ HGNC:19855 ∙ Uniprot:Q8ND07 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BBOF1 gene.

• Methylmalonate_semialdehyde_dehydrogenase_deficiency (50 variants)
• not_specified (48 variants)
• not_provided (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BBOF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025057.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			47			47
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	2	0

Highest pathogenic variant AF is 0.0000460478

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BBOF1	protein_coding	protein_coding	ENST00000394009	12	63511

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.07e-16	0.0192	125613	0	135	125748	0.000537

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	203	250	0.813	0.0000114	3516
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00118	0.00111
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000620	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000907	0.000721
Middle Eastern	0.000620	0.000544
South Asian	0.000313	0.000294
Other	0.000717	0.000652

dbNSFP

Source: dbNSFP

• 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

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.229
• ghis: 0.415

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Bbof1

Gene ontology

• Biological process: motile cilium assembly
• Cellular component: cytoplasm;ciliary basal body