CFAP91

cilia and flagella associated protein 91

Basic information

Region (hg38): 3:119703022-119767102

Previous symbols: [ "C3orf15", "MAATS1" ]

Links

ENSG00000183833 ∙ NCBI:89876 ∙ OMIM:609910 ∙ HGNC:24010 ∙ Uniprot:Q7Z4T9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 51	AR	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	32161152

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP91 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP91 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
missense			57	7		64
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	1	57	8	0

Variants in CFAP91

This is a list of pathogenic ClinVar variants found in the CFAP91 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-119703120-G-C		not specified	Likely benign (Jul 25, 2023)
3-119703163-G-A		not specified	Uncertain significance (May 31, 2022)
3-119703169-G-A		not specified	Likely benign (Aug 02, 2021)
3-119703186-C-T		not specified	Uncertain significance (Feb 23, 2023)
3-119703196-C-T		not specified	Uncertain significance (Sep 14, 2022)
3-119703222-G-C		Male infertility with teratozoospermia due to single gene mutation • Spermatogenic failure 51	Pathogenic (Feb 08, 2021)
3-119706843-T-C			Likely benign (Feb 01, 2024)
3-119706845-C-T		not specified	Uncertain significance (Feb 22, 2023)
3-119706874-C-T		not specified	Uncertain significance (Jun 16, 2023)
3-119707417-G-A		not specified	Uncertain significance (Jul 09, 2024)
3-119707447-A-G		not specified	Uncertain significance (Mar 01, 2023)
3-119707506-C-T		not specified	Uncertain significance (Jun 01, 2023)
3-119707521-C-T		not specified	Uncertain significance (May 06, 2022)
3-119707549-G-A		not specified	Likely benign (Jan 03, 2024)
3-119708596-A-C		not specified	Uncertain significance (Mar 14, 2023)
3-119708650-A-G		not specified	Likely benign (Sep 07, 2022)
3-119708656-G-C		not specified	Uncertain significance (Apr 13, 2023)
3-119708658-T-C		not specified	Uncertain significance (Oct 10, 2023)
3-119708661-A-G		not specified	Uncertain significance (Sep 26, 2023)
3-119709841-C-T		not specified	Uncertain significance (Oct 20, 2023)
3-119709888-G-A		not specified	Likely benign (Oct 14, 2023)
3-119715559-T-C			Uncertain significance (Oct 01, 2021)
3-119715573-A-T		not specified	Uncertain significance (Dec 22, 2023)
3-119715579-T-C		not specified	Uncertain significance (Oct 01, 2024)
3-119715596-A-G		not specified	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP91	protein_coding	protein_coding	ENST00000273390	17	64081

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.57e-13	0.929	125596	0	152	125748	0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0888	424	429	0.988	0.0000241	5019
Missense in Polyphen		126	128.75	0.97867		1380
Synonymous	0.292	146	151	0.970	0.00000778	1413
Loss of Function	2.14	27	42.0	0.643	0.00000205	531

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00165	0.00165
Ashkenazi Jewish	0.00116	0.00109
East Asian	0.000716	0.000707
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000571	0.000563
Middle Eastern	0.000716	0.000707
South Asian	0.000197	0.000196
Other	0.000987	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in spermatogenesis (PubMed:12223483). May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). {ECO:0000250|UniProtKB:A8IH47, ECO:0000269|PubMed:12223483}.

Recessive Scores

• pRec: 0.0951

Intolerance Scores

• rvis_EVS: 0.87
• rvis_percentile_EVS: 88.87

Haploinsufficiency Scores

• pHI: 0.0687
• hipred: N
• hipred_score: 0.247
• ghis: 0.448

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: Maats1

Gene ontology

• Biological process: cilium movement
• Cellular component: radial spoke stalk;mitochondrion;axoneme;motile cilium
• Molecular function: protein binding