CFAP157

cilia and flagella associated protein 157, the group of Cilia and flagella associated

Basic information

Region (hg38): 9:127706987-127716002

Previous symbols: [ "C9orf117" ]

Links

ENSG00000160401 ∙ NCBI:286207 ∙ ∙ HGNC:27843 ∙ Uniprot:Q5JU67 ∙ 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 CFAP157 gene.

• Inborn genetic diseases (38 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP157 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			13			13
Total	0	0	38	0	0

Variants in CFAP157

This is a list of pathogenic ClinVar variants found in the CFAP157 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-127707041-A-C		not specified	Uncertain significance (Oct 20, 2023)
9-127707183-G-T		not specified	Uncertain significance (Nov 09, 2023)
9-127707191-C-T		not specified	Uncertain significance (Aug 02, 2021)
9-127709544-T-G		not specified	Uncertain significance (Oct 12, 2021)
9-127709552-A-C		not specified	Uncertain significance (Jan 17, 2024)
9-127709567-G-A		not specified	Uncertain significance (Mar 13, 2023)
9-127709574-T-C		not specified	Uncertain significance (Sep 22, 2022)
9-127709578-G-C		not specified	Uncertain significance (Jul 11, 2023)
9-127709622-C-T		not specified	Uncertain significance (Oct 31, 2022)
9-127709676-C-T		not specified	Uncertain significance (Jul 05, 2023)
9-127709679-A-G		not specified	Uncertain significance (Aug 22, 2023)
9-127709685-T-C		not specified	Uncertain significance (Feb 03, 2022)
9-127710601-G-T		not specified	Uncertain significance (Jul 28, 2021)
9-127710607-A-G		not specified	Uncertain significance (Apr 07, 2022)
9-127710608-G-C		not specified	Uncertain significance (Feb 03, 2022)
9-127710630-C-T		not specified	Uncertain significance (Feb 10, 2022)
9-127710688-A-G		not specified	Uncertain significance (Aug 09, 2021)
9-127711249-A-G		not specified	Uncertain significance (Jun 05, 2023)
9-127711297-G-A		not specified	Likely benign (Dec 08, 2023)
9-127711821-T-A		not specified	Uncertain significance (Jun 09, 2022)
9-127711831-G-A		not specified	Uncertain significance (Apr 28, 2022)
9-127711887-G-A		not specified	Uncertain significance (Jan 19, 2022)
9-127711931-G-A		not specified	Uncertain significance (Sep 13, 2023)
9-127712253-G-T		not specified	Uncertain significance (Feb 22, 2023)
9-127712291-G-A		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP157	protein_coding	protein_coding	ENST00000373295	9	9014

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.24e-12	0.255	124453	0	365	124818	0.00146

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.752	271	308	0.879	0.0000188	3415
Missense in Polyphen		100	92.187	1.0848		1039
Synonymous	1.35	107	126	0.847	0.00000748	983
Loss of Function	0.952	20	25.1	0.795	0.00000116	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0177	0.0173
Ashkenazi Jewish	0.000498	0.000497
East Asian	0.000279	0.000278
Finnish	0.00	0.00
European (Non-Finnish)	0.000458	0.000450
Middle Eastern	0.000279	0.000278
South Asian	0.000297	0.000294
Other	0.00116	0.00115

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure. {ECO:0000250|UniProtKB:Q0VFX2}.

Intolerance Scores

• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.91

Haploinsufficiency Scores

• pHI: 0.297
• hipred: N
• hipred_score: 0.123
• ghis: 0.405

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap157
• Phenotype: cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: sperm axoneme assembly
• Cellular component: cytosol;plasma membrane;ciliary basal body;intracellular membrane-bounded organelle
• Molecular function: microtubule binding