OVGP1

oviductal glycoprotein 1, the group of Mucins|Chitinases

Basic information

Region (hg38): 1:111414319-111427735

Previous symbols: [ "MUC9" ]

Links

ENSG00000085465 ∙ NCBI:5016 ∙ OMIM:603578 ∙ HGNC:8524 ∙ Uniprot:Q12889 ∙ 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 OVGP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OVGP1 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			40	4	4	48
nonsense						0
start loss						0
frameshift						0
inframe indel					3	3
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	4	8

Variants in OVGP1

This is a list of pathogenic ClinVar variants found in the OVGP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-111414502-C-T		not specified	Uncertain significance (Aug 02, 2021)
1-111414543-T-C		not specified	Uncertain significance (Dec 20, 2023)
1-111414550-A-C		not specified	Uncertain significance (Jun 28, 2022)
1-111414556-G-A		not specified	Uncertain significance (Nov 23, 2021)
1-111414643-T-A		not specified	Uncertain significance (Dec 02, 2021)
1-111414716-C-G		not specified	Uncertain significance (May 17, 2023)
1-111414718-C-G		not specified	Uncertain significance (Dec 11, 2023)
1-111414741-C-T		not specified	Uncertain significance (May 13, 2022)
1-111414748-G-C			Benign (Jun 21, 2018)
1-111414790-G-A		not specified	Uncertain significance (Mar 22, 2023)
1-111414862-T-C		not specified	Uncertain significance (May 13, 2024)
1-111414879-CTCACAGACTGATGACTCACAGGGG-C			Benign (Oct 11, 2019)
1-111414895-T-C			Benign (Jun 21, 2018)
1-111414901-G-GGGTCAGGGTCTTCTGTCCAGT		not specified	Benign (Nov 08, 2015)
1-111414903-G-C			Benign (Jul 13, 2018)
1-111414925-GGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA-G			Benign (Oct 11, 2019)
1-111414949-T-C		not specified	Uncertain significance (Feb 05, 2024)
1-111414975-A-G		not specified	Uncertain significance (Apr 12, 2022)
1-111415053-C-T		not specified	Uncertain significance (Oct 03, 2022)
1-111415057-C-T		not specified	Uncertain significance (Feb 23, 2023)
1-111415099-C-T			Benign (Jun 21, 2018)
1-111415107-A-G		not specified	Uncertain significance (Mar 01, 2024)
1-111415123-G-A		not specified	Likely benign (Oct 26, 2022)
1-111415192-C-T		not specified	Likely benign (Jan 23, 2023)
1-111415207-C-G		not specified	Uncertain significance (Nov 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OVGP1	protein_coding	protein_coding	ENST00000369732	11	13464

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000673	0.995	125683	0	63	125746	0.000251

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.134	384	377	1.02	0.0000200	4388
Missense in Polyphen		105	111.91	0.93828		1379
Synonymous	-0.309	149	144	1.03	0.00000768	1392
Loss of Function	2.53	9	21.7	0.414	0.00000101	258

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000487	0.000486
Ashkenazi Jewish	0.00	0.00
East Asian	0.000820	0.000816
Finnish	0.00	0.00
European (Non-Finnish)	0.000284	0.000237
Middle Eastern	0.000820	0.000816
South Asian	0.000298	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to oocyte zona pellucida in vivo. May play a role in the fertilization process and/or early embryonic development.
• Pathway: Interaction With The Zona Pellucida;Fertilization;Reproduction (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.922
• rvis_EVS: 1.62
• rvis_percentile_EVS: 96.03

Haploinsufficiency Scores

• pHI: 0.0654
• hipred: N
• hipred_score: 0.200
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0272

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ovgp1

Gene ontology

• Biological process: carbohydrate metabolic process;chitin catabolic process;binding of sperm to zona pellucida;female pregnancy;negative regulation of binding of sperm to zona pellucida
• Cellular component: extracellular region;cytoplasm;cytosol;transport vesicle;egg coat;perivitelline space
• Molecular function: chitinase activity;chitin binding