CFAP73

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

Basic information

Region (hg38): 12:113149723-113159276

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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			13	2		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			13	2	1	16
Total	0	0	26	5	1

Variants in CFAP73

This is a list of pathogenic ClinVar variants found in the CFAP73 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-113149862-C-T			Likely benign (Jan 01, 2023)
12-113149880-A-G		not specified	Uncertain significance (Sep 14, 2022)
12-113149886-G-T		not specified	Uncertain significance (Dec 15, 2022)
12-113151938-A-G		not specified	Uncertain significance (Jan 08, 2024)
12-113151939-G-C		not specified	Uncertain significance (Jun 07, 2024)
12-113151961-C-T		not specified	Uncertain significance (Dec 14, 2021)
12-113151980-A-G		not specified	Uncertain significance (Apr 23, 2024)
12-113153227-A-G		not specified	Likely benign (Mar 07, 2024)
12-113153280-G-A		not specified	Uncertain significance (Dec 21, 2023)
12-113154456-G-A		not specified	Uncertain significance (Dec 12, 2023)
12-113154469-C-T		not specified	Uncertain significance (Dec 22, 2023)
12-113155267-A-G		not specified	Uncertain significance (Jul 16, 2021)
12-113155272-A-G		not specified	Uncertain significance (Mar 29, 2023)
12-113155299-A-G		not specified	Uncertain significance (Feb 06, 2024)
12-113155340-C-T			Likely benign (Jun 01, 2022)
12-113155345-T-A		not specified	Uncertain significance (Feb 23, 2023)
12-113155366-A-G		not specified	Uncertain significance (May 15, 2024)
12-113155399-C-T		not specified	Uncertain significance (Sep 30, 2021)
12-113155413-G-C		not specified	Uncertain significance (May 17, 2023)
12-113158890-C-T		not specified	Uncertain significance (Aug 22, 2023)
12-113158891-G-A		not specified	Uncertain significance (Jan 02, 2024)
12-113158899-C-T		not specified	Uncertain significance (Feb 17, 2022)
12-113158920-C-T		not specified	Uncertain significance (Mar 11, 2022)
12-113158930-C-A		not specified	Uncertain significance (Dec 12, 2023)
12-113158932-C-A		not specified	Uncertain significance (Feb 15, 2023)

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