CFAP126

cilia and flagella associated protein 126, the group of Cilia and flagella associated

Basic information

Region (hg38): 1:161364733-161367876

Previous symbols: [ "C1orf192" ]

Links

ENSG00000188931 ∙ NCBI:257177 ∙ OMIM:616119 ∙ HGNC:32325 ∙ Uniprot:Q5VTH2 ∙ 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 CFAP126 gene.

• not_specified (25 variants)
• not_provided (1 variants)
• Pheochromocytoma/paraganglioma_syndrome_3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP126 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001013625.4. 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	1					1
missense			23	2		25
nonsense						0
start loss	1					1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	2	0	23	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP126	protein_coding	protein_coding	ENST00000367974	5	3144

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000619	0.279	125663	0	84	125747	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.713	78	97.9	0.797	0.00000489	1142
Missense in Polyphen		41	41.582	0.986		467
Synonymous	1.81	20	33.3	0.601	0.00000152	367
Loss of Function	0.0555	8	8.17	0.979	3.46e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000423	0.000423
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000272
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000528	0.000528
Middle Eastern	0.000435	0.000272
South Asian	0.000196	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear. {ECO:0000250|UniProtKB:Q6P8X9}.

Intolerance Scores

• rvis_EVS: 0.41
• rvis_percentile_EVS: 76.67

Haploinsufficiency Scores

• pHI: 0.0361
• hipred: N
• hipred_score: 0.178
• ghis: 0.393

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap126
• Phenotype: normal phenotype

Gene ontology

• Biological process: cilium organization
• Cellular component: cytoplasm;cilium;apical plasma membrane;ciliary basal body