CFAP206

cilia and flagella associated protein 206, the group of Cilia and flagella associated

Basic information

Region (hg38): 6:87407972-87464465

Previous symbols: [ "C6orf165" ]

Links

ENSG00000272514 ∙ NCBI:154313 ∙ ∙ HGNC:21405 ∙ Uniprot:Q8IYR0 ∙ 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 CFAP206 gene.

• not_specified (67 variants)
• not_provided (2 variants)
• Abnormal_sperm_tail_morphology (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP206 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001031743.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			67	2		69
nonsense						0
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	1	0	67	2	0

Highest pathogenic variant AF is 0.000030070552

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP206	protein_coding	protein_coding	ENST00000369562	12	56483

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.09e-15	0.122	125369	1	377	125747	0.00150

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.834	291	334	0.872	0.0000173	4082
Missense in Polyphen		67	75.303	0.88974		968
Synonymous	-0.0508	115	114	1.01	0.00000596	1160
Loss of Function	0.945	25	30.6	0.816	0.00000164	380

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00185	0.00183
Ashkenazi Jewish	0.00119	0.00119
East Asian	0.000405	0.000381
Finnish	0.00801	0.00798
European (Non-Finnish)	0.00105	0.00105
Middle Eastern	0.000405	0.000381
South Asian	0.000568	0.000523
Other	0.000819	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate cilium motility through its role in the assembly of the axonemal radial spokes. {ECO:0000250|UniProtKB:Q23H79}.

Recessive Scores

• pRec: 0.346

Intolerance Scores

• rvis_EVS: 2.11
• rvis_percentile_EVS: 97.89

Haploinsufficiency Scores

• pHI: 0.0812

Mouse Genome Informatics

• Gene name: Cfap206

Gene ontology

• Biological process: cilium movement;axoneme assembly
• Cellular component: radial spoke;motile cilium;A axonemal microtubule
• Molecular function: protein binding