CATSPERE

catsper channel auxiliary subunit epsilon, the group of Cation channels sperm associated

Basic information

Region (hg38): 1:244454377-244641177

Previous symbols: [ "C1orf101" ]

Links

ENSG00000179397 ∙ NCBI:257044 ∙ OMIM:617510 ∙ HGNC:28491 ∙ Uniprot:Q5SY80 ∙ 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 CATSPERE gene.

• not_specified (5 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CATSPERE gene is commonly pathogenic or not. These statistics are base on transcript: NM_001130957.2. 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						0
missense			4	1		5
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CATSPERE	protein_coding	protein_coding	ENST00000366534	22	186801

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.99e-12	0.997	125703	0	41	125744	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	404	479	0.843	0.0000235	6233
Missense in Polyphen		110	129.41	0.84999		1802
Synonymous	1.44	142	165	0.858	0.00000817	1750
Loss of Function	2.80	26	46.6	0.558	0.00000204	646

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000273	0.000271
Ashkenazi Jewish	0.000993	0.000993
East Asian	0.0000572	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000182	0.000176
Middle Eastern	0.0000572	0.0000544
South Asian	0.0000328	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. {ECO:0000250|UniProtKB:P0DP43}.

Intolerance Scores

• rvis_EVS: 0.85
• rvis_percentile_EVS: 88.48

Haploinsufficiency Scores

• pHI: 0.0646
• hipred: N
• hipred_score: 0.233

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Catspere1

Gene ontology

• Cellular component: CatSper complex;sperm principal piece