OVCH1

ovochymase 1

Basic information

Region (hg38): 12:29412474-29497686

Links

ENSG00000187950 ∙ NCBI:341350 ∙ ∙ HGNC:23080 ∙ Uniprot:Q7RTY7 ∙ 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 OVCH1 gene.

• not_specified (117 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OVCH1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001353179.2. 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			107	7		114
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	107	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OVCH1	protein_coding	protein_coding	ENST00000318184	28	85213

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.94e-36	0.0000124	124308	2	484	124794	0.00195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.383	543	569	0.955	0.0000275	7342
Missense in Polyphen		107	122.45	0.87382		1680
Synonymous	0.185	202	205	0.984	0.0000108	2140
Loss of Function	0.160	55	56.3	0.977	0.00000256	769

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00411	0.00410
Ashkenazi Jewish	0.000304	0.000298
East Asian	0.00561	0.00530
Finnish	0.00392	0.00367
European (Non-Finnish)	0.00185	0.00180
Middle Eastern	0.00561	0.00530
South Asian	0.000417	0.000392
Other	0.00119	0.00115

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0580
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0521

Gene Damage Prediction

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

Gene ontology

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