CFAP68

cilia and flagella associated protein 68

Basic information

Region (hg38): 11:111878935-111885975

Previous symbols: [ "C11orf1" ]

Links

ENSG00000137720 ∙ NCBI:64776 ∙ ∙ HGNC:1163 ∙ Uniprot:Q9H5F2 ∙ 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 CFAP68 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP68 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						0
missense			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in CFAP68

This is a list of pathogenic ClinVar variants found in the CFAP68 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-111878984-T-C		not specified	Uncertain significance (Nov 30, 2022)
11-111878985-T-C		not specified	Uncertain significance (Oct 07, 2024)
11-111878989-C-G		not specified	Uncertain significance (Jun 18, 2024)
11-111879013-C-G		not specified	Likely benign (Jul 27, 2023)
11-111879014-T-C		not specified	Uncertain significance (May 05, 2023)
11-111879060-C-G		not specified	Uncertain significance (Jul 30, 2024)
11-111879063-G-C		not specified	Uncertain significance (Dec 20, 2021)
11-111879096-T-G		not specified	Uncertain significance (Nov 08, 2021)
11-111882380-G-A		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP68	protein_coding	protein_coding	ENST00000260276	4	7041

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.85e-9	0.0362	125697	0	50	125747	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.161	73	77.0	0.948	0.00000362	982
Missense in Polyphen		21	29.122	0.7211		389
Synonymous	0.831	22	27.5	0.799	0.00000131	255
Loss of Function	-0.730	12	9.56	1.25	5.77e-7	96

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000369	0.000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000299	0.000299
Middle Eastern	0.000109	0.000109
South Asian	0.000164	0.000163
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0867

Intolerance Scores

• loftool: 0.797
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.32

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.144
• ghis: 0.501

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: 1110032A03Rik
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: nucleus;nucleoplasm
• Molecular function: molecular_function