CFAP36

cilia and flagella associated protein 36, the group of Cilia and flagella associated

Basic information

Region (hg38): 2:55519604-55545079

Previous symbols: [ "CCDC104" ]

Links

ENSG00000163001 ∙ NCBI:112942 ∙ ∙ HGNC:30540 ∙ Uniprot:Q96G28 ∙ 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 CFAP36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP36 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in CFAP36

This is a list of pathogenic ClinVar variants found in the CFAP36 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-55519888-C-G		not specified	Uncertain significance (Jul 25, 2023)
2-55528893-G-T		not specified	Uncertain significance (May 24, 2024)
2-55528906-A-C		not specified	Uncertain significance (Mar 01, 2023)
2-55528948-T-C		not specified	Uncertain significance (Jun 23, 2021)
2-55528990-A-G		not specified	Uncertain significance (Mar 06, 2023)
2-55533894-C-T		not specified	Uncertain significance (Oct 04, 2022)
2-55533926-C-T		not specified	Uncertain significance (Jun 22, 2023)
2-55533931-A-C		not specified	Uncertain significance (Dec 14, 2023)
2-55535753-G-C		not specified	Uncertain significance (May 27, 2022)
2-55544058-T-C		not specified	Uncertain significance (Feb 02, 2022)
2-55544226-T-C		not specified	Uncertain significance (Apr 19, 2024)
2-55544283-G-T		not specified	Uncertain significance (Sep 21, 2023)
2-55544299-T-A		not specified	Uncertain significance (Oct 05, 2021)
2-55544304-A-C		not specified	Uncertain significance (Jan 04, 2024)
2-55544328-C-G		not specified	Uncertain significance (Jan 04, 2022)
2-55544914-C-T		not specified	Uncertain significance (Mar 24, 2023)
2-55544950-C-T		not specified	Uncertain significance (Jul 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP36	protein_coding	protein_coding	ENST00000349456	10	26276

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000213	0.978	125707	0	40	125747	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0687	169	167	1.01	0.00000759	2255
Missense in Polyphen		46	47.121	0.97621		699
Synonymous	1.31	44	56.5	0.778	0.00000272	576
Loss of Function	2.07	11	21.3	0.515	0.00000106	273

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000910	0.0000910
Ashkenazi Jewish	0.00	0.00
East Asian	0.000776	0.000761
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000145	0.000141
Middle Eastern	0.000776	0.000761
South Asian	0.000231	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as an effector for ARL3.

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 67.03

Haploinsufficiency Scores

• pHI: 0.0763
• hipred: N
• hipred_score: 0.196
• ghis: 0.509

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap36
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: nucleus;cytoplasm;motile cilium;ciliary transition zone;ciliary base
• Molecular function: protein binding;protein N-terminus binding