CFAP95

cilia and flagella associated protein 95

Basic information

Region (hg38): 9:69820816-69906227

Previous symbols: [ "C9orf135" ]

Links

ENSG00000204711 ∙ NCBI:138255 ∙ ∙ HGNC:31422 ∙ Uniprot:Q5VTT2 ∙ 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 CFAP95 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP95 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	2
missense			2			2
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	2	1	1

Variants in CFAP95

This is a list of pathogenic ClinVar variants found in the CFAP95 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-69844603-G-A		not specified	Uncertain significance (Aug 02, 2021)
9-69856659-C-T			Benign (Dec 28, 2017)
9-69857903-T-C			Benign (Dec 28, 2017)
9-69886855-A-G		not specified	Uncertain significance (Jun 18, 2021)
9-69886859-A-C			Likely benign (Oct 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP95	protein_coding	protein_coding	ENST00000377197	6	85440

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.42e-8	0.216	125590	2	154	125746	0.000620

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.299	137	128	1.07	0.00000666	1487
Missense in Polyphen		48	43.168	1.1119		509
Synonymous	0.0311	46	46.3	0.994	0.00000235	411
Loss of Function	0.325	12	13.3	0.904	6.45e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000662	0.000661
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000625	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.0000625	0.0000544
South Asian	0.00403	0.00396
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.370
• rvis_EVS: 0
• rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

• pHI: 0.0701
• hipred: N
• hipred_score: 0.123
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: 1700028P14Rik

Gene ontology

• Cellular component: cytoplasm;plasma membrane;integral component of membrane