CFAP57

cilia and flagella associated protein 57, the group of WD repeat domain containing|Cilia and flagella associated

Basic information

Region (hg38): 1:43172330-43254358

Previous symbols: [ "WDR65" ]

Links

ENSG00000243710 ∙ NCBI:149465 ∙ OMIM:614259 ∙ HGNC:26485 ∙ Uniprot:Q96MR6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
van der Woude syndrome 2	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary; Musculoskeletal	11781685; 21574244; 36752199

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP57 gene.

• not_specified (92 variants)
• CFAP57-related_disorder (30 variants)
• not_provided (8 variants)
• Van_der_Woude_syndrome_2 (2 variants)
• Primary_ciliary_dyskinesia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP57 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001378189.1. 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				11		11
missense			86	12	4	102
nonsense		1				1
start loss						0
frameshift		1				1
splice donor/acceptor (+/-2bp)						0
Total	0	2	86	23	4

Highest pathogenic variant AF is 0.0000037178684

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP57	protein_coding	protein_coding	ENST00000528956	10	82210

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.05e-12	0.278	125651	0	97	125748	0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.450	361	386	0.936	0.0000211	4587
Missense in Polyphen		87	112.98	0.77007		1349
Synonymous	0.611	135	144	0.935	0.00000783	1368
Loss of Function	1.09	22	28.2	0.779	0.00000135	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000561	0.000561
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000443	0.000431
Middle Eastern	0.000489	0.000489
South Asian	0.000686	0.000686
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0921

Intolerance Scores

• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.49

Haploinsufficiency Scores

• pHI: 0.229
• hipred: N
• hipred_score: 0.196
• ghis: 0.454

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap57

Gene ontology

• Biological process: cilium-dependent cell motility