CFAP221

cilia and flagella associated protein 221, the group of Cilia and flagella associated

Basic information

Region (hg38): 2:119544432-119662251

Links

ENSG00000163075 ∙ NCBI:200373 ∙ OMIM:618704 ∙ HGNC:33720 ∙ Uniprot:Q4G0U5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• primary ciliary dyskinesia (Limited), mode of inheritance: AR
• primary ciliary dyskinesia (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP221 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP221 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				2	1	3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding						0
Total	0	0	0	3	1

Variants in CFAP221

This is a list of pathogenic ClinVar variants found in the CFAP221 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-119546230-GA-G			Uncertain significance (Aug 26, 2022)
2-119601211-C-G			Likely benign (Jun 01, 2022)
2-119604718-G-A			Benign (Feb 01, 2023)
2-119605180-G-A			Uncertain significance (Sep 11, 2024)
2-119608481-G-GTT		CFAP221-related disorder	Likely benign (Sep 04, 2024)
2-119611728-C-T			Likely benign (Jul 01, 2022)
2-119611749-A-G			Likely benign (Nov 01, 2024)
2-119627683-G-A		CFAP221-related disorder	Likely benign (Jan 05, 2023)
2-119629924-T-A			Uncertain significance (Feb 01, 2022)
2-119639792-C-G			Likely benign (Oct 01, 2024)
2-119639871-A-T			Likely benign (Feb 01, 2023)
2-119647034-CTAGAA-C		Primary ciliary dyskinesia	Likely pathogenic (Oct 21, 2019)
2-119647051-G-A		Primary ciliary dyskinesia	Likely pathogenic (Oct 21, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP221	protein_coding	protein_coding	ENST00000413369	23	117820

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.72e-17	0.827	125653	0	95	125748	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.161	445	436	1.02	0.0000233	5532
Missense in Polyphen		110	120.66	0.91163		1539
Synonymous	0.551	150	159	0.944	0.00000901	1526
Loss of Function	2.08	33	48.7	0.678	0.00000257	598

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000699	0.000690
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000109	0.000109
Finnish	0.000417	0.000416
European (Non-Finnish)	0.000424	0.000422
Middle Eastern	0.000109	0.000109
South Asian	0.000491	0.000490
Other	0.000505	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cilium morphogenesis. {ECO:0000250|UniProtKB:A9Q751}.

Intolerance Scores

• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.6

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.145
• ghis: 0.435

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap221

Gene ontology

• Biological process: cilium movement;motile cilium assembly;cilium assembly
• Cellular component: cilium;axoneme
• Molecular function: calmodulin binding