OOEP

oocyte expressed protein, the group of Subcortical maternal complex

Basic information

Region (hg38): 6:73368554-73395133

Previous symbols: [ "C6orf156" ]

Links

ENSG00000203907 ∙ NCBI:441161 ∙ OMIM:611689 ∙ HGNC:21382 ∙ Uniprot:A6NGQ2 ∙ 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 OOEP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OOEP 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4		1	5
Total	0	0	14	1	1

Variants in OOEP

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

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

Position	Type	Phenotype	Significance	ClinVar
6-73368849-G-A		not specified	Uncertain significance (May 26, 2022)
6-73368860-T-G		not specified	Uncertain significance (Feb 06, 2024)
6-73369251-T-C		not specified	Likely benign (Nov 13, 2023)
6-73369322-A-C		not specified	Uncertain significance (Oct 12, 2022)
6-73369340-G-T		not specified	Uncertain significance (Sep 16, 2021)
6-73369683-C-G		Inherited oocyte maturation defect	Uncertain significance (-)
6-73369684-G-C		Inherited oocyte maturation defect	Uncertain significance (-)
6-73369722-A-C		not specified	Uncertain significance (Apr 26, 2024)
6-73369731-A-G		not specified	Uncertain significance (Jun 01, 2023)
6-73369743-G-C		not specified	Uncertain significance (Sep 14, 2022)
6-73369744-G-A		not specified	Uncertain significance (Feb 28, 2024)
6-73369746-G-A		not specified	Uncertain significance (Dec 20, 2022)
6-73369771-C-T		not specified	Uncertain significance (Sep 01, 2021)
6-73369788-A-G		not specified	Uncertain significance (Jan 13, 2023)
6-73394922-G-A			Benign (Jun 19, 2018)
6-73395030-G-A		not specified	Uncertain significance (Jul 13, 2022)
6-73395048-G-C		not specified	Uncertain significance (May 31, 2023)
6-73395051-G-C		not specified	Uncertain significance (May 23, 2023)
6-73395072-G-A		not specified	Uncertain significance (Jan 09, 2024)
6-73395087-T-A		not specified	Uncertain significance (May 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OOEP	protein_coding	protein_coding	ENST00000370359	3	26579

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000143	0.433	124626	0	21	124647	0.0000842

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.505	84	98.1	0.856	0.00000647	951
Missense in Polyphen		15	22.83	0.65703		254
Synonymous	0.272	37	39.2	0.945	0.00000251	308
Loss of Function	0.206	6	6.57	0.913	3.61e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000792	0.000791
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000531	0.0000531
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions. {ECO:0000250}.

Recessive Scores

• pRec: 0.0941

Intolerance Scores

• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.28

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.172

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.357

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ooep
• Phenotype: reproductive system phenotype; embryo phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: cytoplasm;protein-containing complex
• Molecular function: RNA binding;protein binding