FREY1

Frey regulator of sperm-oocyte fusion 1

Basic information

Region (hg38): 11:45906513-45907272

Previous symbols: [ "C11orf94" ]

Links

ENSG00000234776 ∙ NCBI:143678 ∙ ∙ HGNC:37213 ∙ Uniprot:C9JXX5 ∙ 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 FREY1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FREY1 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			2	1		3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	1	0

Variants in FREY1

This is a list of pathogenic ClinVar variants found in the FREY1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-45906585-T-C		not specified	Uncertain significance (Jul 20, 2021)
11-45906920-C-G			Likely benign (Apr 01, 2022)
11-45907152-G-T		not specified	Uncertain significance (Sep 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FREY1	protein_coding	protein_coding	ENST00000449465	3	749

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0429	0.678	124004	1	603	124608	0.00243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.542	74	62.0	1.19	0.00000415	593
Missense in Polyphen		29	24.904	1.1645		225
Synonymous	-0.482	32	28.7	1.11	0.00000190	229
Loss of Function	0.530	2	2.99	0.669	1.27e-7	33

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00378	0.00378
Ashkenazi Jewish	0.00	0.00
East Asian	0.000234	0.000223
Finnish	0.00558	0.00554
European (Non-Finnish)	0.00299	0.00300
Middle Eastern	0.000234	0.000223
South Asian	0.000261	0.000261
Other	0.00298	0.00298

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.750
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• 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: 1700029I15Rik

Gene ontology

• Cellular component: extracellular region