CFAP100

cilia and flagella associated protein 100, the group of Cilia and flagella associated

Basic information

Region (hg38): 3:126394909-126436556

Previous symbols: [ "CCDC37" ]

Links

ENSG00000163885 ∙ NCBI:348807 ∙ ∙ HGNC:26842 ∙ Uniprot:Q494V2 ∙ 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 CFAP100 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP100 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			65	5		70
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	65	6	0

Variants in CFAP100

This is a list of pathogenic ClinVar variants found in the CFAP100 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-126396023-T-C		not specified	Uncertain significance (Nov 24, 2024)
3-126407228-A-G		not specified	Likely benign (Feb 01, 2025)
3-126407241-G-C		not specified	Uncertain significance (Sep 16, 2021)
3-126407244-A-T		not specified	Uncertain significance (May 27, 2022)
3-126407248-C-A		not specified	Uncertain significance (Feb 02, 2022)
3-126414091-G-T		not specified	Likely benign (Oct 26, 2021)
3-126414162-C-T		not specified	Uncertain significance (Aug 10, 2024)
3-126414163-G-A		not specified	Uncertain significance (Jul 02, 2024)
3-126414171-G-C		not specified	Uncertain significance (Dec 23, 2024)
3-126416343-G-A		not specified	Uncertain significance (Dec 30, 2024)
3-126416397-C-T		not specified	Uncertain significance (May 14, 2024)
3-126416403-C-G		not specified	Likely benign (Mar 18, 2024)
3-126416454-G-A		not specified	Uncertain significance (Dec 08, 2021)
3-126416466-G-T		not specified	Uncertain significance (Dec 13, 2021)
3-126416482-C-G		not specified	Uncertain significance (Nov 07, 2024)
3-126416491-A-G		not specified	Uncertain significance (Feb 25, 2025)
3-126416492-G-C		not specified	Uncertain significance (May 30, 2023)
3-126418644-C-T		not specified	Uncertain significance (Oct 17, 2024)
3-126418660-C-T		not specified	Uncertain significance (Nov 12, 2021)
3-126418661-G-A			Likely benign (Nov 01, 2024)
3-126418707-A-G		not specified	Uncertain significance (Jan 24, 2023)
3-126418711-A-C		not specified	Uncertain significance (May 13, 2024)
3-126418758-G-A		not specified	Uncertain significance (Sep 26, 2024)
3-126418761-C-A		not specified	Uncertain significance (Dec 14, 2024)
3-126418770-A-G		not specified	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP100	protein_coding	protein_coding	ENST00000352312	16	41618

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.68e-18	0.0415	124213	18	1517	125748	0.00612

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0601	358	355	1.01	0.0000219	4006
Missense in Polyphen		91	97.103	0.93715		1190
Synonymous	-1.13	169	151	1.12	0.00000997	1110
Loss of Function	0.876	30	35.6	0.842	0.00000194	400

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00448	0.00431
Ashkenazi Jewish	0.00117	0.00109
East Asian	0.00177	0.00174
Finnish	0.0325	0.0294
European (Non-Finnish)	0.00695	0.00608
Middle Eastern	0.00177	0.00174
South Asian	0.00115	0.00111
Other	0.00652	0.00604

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:A8I4E9}.

Recessive Scores

• pRec: 0.0884

Intolerance Scores

• rvis_EVS: 1.34
• rvis_percentile_EVS: 94.3

Haploinsufficiency Scores

• pHI: 0.0743
• hipred: N
• hipred_score: 0.123
• ghis: 0.417

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap100

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