CFAP77

cilia and flagella associated protein 77, the group of Cilia and flagella associated

Basic information

Region (hg38): 9:132410043-132573319

Previous symbols: [ "C9orf171" ]

Links

ENSG00000188523 ∙ NCBI:389799 ∙ ∙ HGNC:33776 ∙ Uniprot:Q6ZQR2 ∙ 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 CFAP77 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP77 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						0
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	21	1	0

Variants in CFAP77

This is a list of pathogenic ClinVar variants found in the CFAP77 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-132410288-G-C		not specified	Uncertain significance (Jun 29, 2022)
9-132410303-T-C		not specified	Likely benign (Mar 14, 2023)
9-132410335-C-A		not specified	Uncertain significance (Jul 25, 2023)
9-132410339-G-T		not specified	Uncertain significance (May 04, 2022)
9-132410392-A-C		not specified	Uncertain significance (Aug 12, 2021)
9-132410404-A-T		not specified	Uncertain significance (Jul 26, 2022)
9-132410422-G-A		not specified	Uncertain significance (Aug 19, 2023)
9-132482362-C-T		not specified	Uncertain significance (Jun 21, 2021)
9-132482368-A-G		not specified	Uncertain significance (Feb 28, 2024)
9-132498774-T-C		not specified	Uncertain significance (May 08, 2023)
9-132498785-G-A		not specified	Uncertain significance (Feb 22, 2023)
9-132499419-G-A		not specified	Uncertain significance (Sep 28, 2021)
9-132499429-G-A		not specified	Uncertain significance (Feb 28, 2023)
9-132499449-C-T		not specified	Uncertain significance (Jul 14, 2021)
9-132499452-G-A		not specified	Uncertain significance (Feb 23, 2023)
9-132499467-G-A		not specified	Uncertain significance (Sep 01, 2021)
9-132499467-G-C		not specified	Uncertain significance (Apr 15, 2024)
9-132499501-G-A		not specified	Uncertain significance (May 26, 2024)
9-132499533-G-C		not specified	Uncertain significance (Dec 06, 2021)
9-132499542-C-T		not specified	Uncertain significance (Mar 31, 2024)
9-132499594-G-A		not specified	Uncertain significance (May 20, 2024)
9-132537635-C-T		not specified	Uncertain significance (Sep 14, 2022)
9-132543001-C-T		not specified	Uncertain significance (Oct 04, 2022)
9-132543027-C-T		not specified	Uncertain significance (May 08, 2023)
9-132543038-C-G		not specified	Uncertain significance (Mar 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP77	protein_coding	protein_coding	ENST00000343036	7	163275

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.69e-7	0.421	125701	0	47	125748	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.161	213	207	1.03	0.0000136	2029
Missense in Polyphen		67	68.394	0.97961		640
Synonymous	-0.123	88	86.5	1.02	0.00000549	656
Loss of Function	0.736	12	15.1	0.796	7.27e-7	167

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000714	0.000699
Ashkenazi Jewish	0.00	0.00
East Asian	0.000990	0.000979
Finnish	0.00	0.00
European (Non-Finnish)	0.000101	0.0000967
Middle Eastern	0.000990	0.000979
South Asian	0.0000690	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.15

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180
• ghis: 0.451

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap77

Gene ontology

• Cellular component: cilium
• Molecular function: protein binding