CFAP73

cilia and flagella associated protein 73, the group of Cilia and flagella associated

Basic information

Region (hg38): 12:113149724-113159276

Previous symbols: [ "CCDC42B" ]

Links

ENSG00000186710 ∙ NCBI:387885 ∙ ∙ HGNC:37100 ∙ Uniprot:A6NFT4 ∙ 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 CFAP73 gene.

• not_specified (41 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP73 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001144872.3. 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				1		1
missense			39	3		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP73	protein_coding	protein_coding	ENST00000335621	7	9419

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000332	0.953	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.873	108	137	0.790	0.00000685	1916
Missense in Polyphen		30	37.111	0.80838		529
Synonymous	1.56	46	61.6	0.747	0.00000311	654
Loss of Function	1.77	8	15.5	0.515	8.24e-7	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm. {ECO:0000250|UniProtKB:M1V4Y8}.

Recessive Scores

• pRec: 0.103

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap73

Gene ontology

• Biological process: cilium movement;inner dynein arm assembly;regulation of microtubule motor activity
• Cellular component: motile cilium;axonemal outer doublet
• Molecular function: dynein complex binding