CFAP161

cilia and flagella associated protein 161, the group of Cilia and flagella associated

Basic information

Region (hg38): 15:81007033-81149179

Previous symbols: [ "C15orf26" ]

Links

ENSG00000156206 ∙ NCBI:161502 ∙ ∙ HGNC:26782 ∙ Uniprot:Q6P656 ∙ 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 CFAP161 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP161 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			18	3		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	3	0

Variants in CFAP161

This is a list of pathogenic ClinVar variants found in the CFAP161 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-81134333-G-T		not specified	Uncertain significance (Sep 27, 2021)
15-81134341-C-A		not specified	Uncertain significance (Dec 20, 2023)
15-81134391-T-G		not specified	Uncertain significance (Apr 27, 2023)
15-81135312-C-T		not specified	Uncertain significance (Jul 05, 2023)
15-81135342-C-A		not specified	Uncertain significance (Feb 02, 2022)
15-81136528-G-A		not specified	Likely benign (Jun 13, 2023)
15-81136548-T-G		not specified	Uncertain significance (Feb 12, 2024)
15-81136552-T-A		not specified	Uncertain significance (Feb 22, 2023)
15-81136561-A-G		not specified	Uncertain significance (Nov 17, 2022)
15-81136616-G-A		not specified	Uncertain significance (Mar 25, 2024)
15-81136622-A-T		not specified	Uncertain significance (Dec 21, 2023)
15-81136643-C-T		not specified	Uncertain significance (Aug 15, 2023)
15-81136685-C-T		not specified	Uncertain significance (Apr 07, 2022)
15-81136699-G-A		not specified	Uncertain significance (Nov 16, 2021)
15-81136732-A-T		not specified	Uncertain significance (Nov 03, 2023)
15-81138053-T-C		not specified	Likely benign (Feb 01, 2023)
15-81138100-T-G		not specified	Uncertain significance (Apr 18, 2024)
15-81143792-G-A		not specified	Uncertain significance (Jan 23, 2024)
15-81148343-A-G		not specified	Uncertain significance (Jan 31, 2024)
15-81148384-G-C		not specified	Uncertain significance (Dec 16, 2021)
15-81148413-C-A		not specified	Uncertain significance (Jul 12, 2023)
15-81148501-A-T		not specified	Likely benign (Jul 12, 2022)
15-81148510-G-T		not specified	Uncertain significance (Sep 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP161	protein_coding	protein_coding	ENST00000286732	7	142143

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0163	0.962	124774	0	23	124797	0.0000922

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.358	154	167	0.922	0.00000860	1967
Missense in Polyphen		48	53.069	0.90447		640
Synonymous	1.48	50	65.2	0.767	0.00000354	575
Loss of Function	2.00	5	12.7	0.394	5.35e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000316	0.000316
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.0000556	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in motile cilia function, possibly by acting on dynein arm assembly. {ECO:0000250|UniProtKB:Q568D2}.

Intolerance Scores

• rvis_EVS: -0.65
• rvis_percentile_EVS: 16.36

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.462
• ghis: 0.514

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap161

Zebrafish Information Network

• Gene name: cfap161
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: increased amount