OVCH2

ovochymase 2

Basic information

Region (hg38): 11:7689437-7706477

Links

ENSG00000183378 ∙ NCBI:341277 ∙ OMIM:618962 ∙ HGNC:29970 ∙ Uniprot:Q7RTZ1 ∙ 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 OVCH2 gene.

• not_specified (72 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OVCH2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198185.7. 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			67	5		72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OVCH2	polymorphic_pseudogene	protein_coding	ENST00000454689	15	17300

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.59e-35	1.44e-8	124557	0	74	124631	0.000297

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0735	284	281	1.01	0.0000138	3635
Missense in Polyphen		79	90.337	0.8745		1186
Synonymous	-1.04	112	98.9	1.13	0.00000506	1048
Loss of Function	-2.97	43	26.5	1.62	0.00000117	347

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000471	0.000466
Ashkenazi Jewish	0.00	0.00
East Asian	0.00140	0.00128
Finnish	0.0000466	0.0000464
European (Non-Finnish)	0.000236	0.000230
Middle Eastern	0.00140	0.00128
South Asian	0.000404	0.000360
Other	0.000340	0.000331

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0481
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N

Mouse Genome Informatics

• Gene name: Ovch2

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular region
• Molecular function: serine-type endopeptidase activity;metal ion binding