CORIN

corin, serine peptidase, the group of Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases

Basic information

Region (hg38): 4:47593999-47838106

Links

ENSG00000145244 ∙ NCBI:10699 ∙ OMIM:605236 ∙ HGNC:19012 ∙ Uniprot:Q9Y5Q5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• preeclampsia/eclampsia 5 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Preeclampsia/eclampsia 5; Cardiomyopathy, familial hypertrophic, 30, atrial	AD/AR	Cardiovascular; Obstetric	Individuals with Cardiomyopathy, familial hypertrophic, 30, atrial may manifest with cardiovascular complications, including hypertension, cardiomyopathy, and arrhthymia, and awareness may allow early identification and medical management; Individuals with Preeclampsia/eclampsia may be at high risk for pregnancy complications such as preeclampsia/eclampsia, and thus preconception planning, surveillance during pregnancy (eg, including related to proteinuria, hypertension, liver function, and hematologic parameters), as well as delivery planning may be beneficial in order to decrease associated morbidity and mortality	Cardiovascular; Obstetric	22437503; 37913506

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CORIN gene.

• Cardiomyopathy, familial hypertrophic, 30, atrial (1 variants)
• Cardiomyopathy;Atrial fibrillation;Myocardial fibrosis;Hypertensive disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CORIN 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				3	3	6
missense			85	7	4	96
nonsense						0
start loss						0
frameshift	1					1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				4	2	6
non coding				1	2	3
Total	1	0	85	11	9

Highest pathogenic variant AF is 0.0000265

Variants in CORIN

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

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

Position	Type	Phenotype	Significance	ClinVar
4-47595732-G-C		Inborn genetic diseases	Uncertain significance (Sep 22, 2023)
4-47595743-A-T		Inborn genetic diseases	Uncertain significance (May 02, 2024)
4-47595782-A-C		Inborn genetic diseases	Uncertain significance (Oct 28, 2023)
4-47595795-C-T		Inborn genetic diseases	Uncertain significance (Jan 19, 2022)
4-47595861-G-A		Inborn genetic diseases	Uncertain significance (Jul 27, 2022)
4-47595884-A-T		Inborn genetic diseases	Uncertain significance (Aug 04, 2023)
4-47595894-C-A		Inborn genetic diseases	Uncertain significance (Aug 08, 2023)
4-47595903-C-T		Inborn genetic diseases	Uncertain significance (Nov 17, 2022)
4-47600233-C-T		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
4-47600242-T-C		Inborn genetic diseases	Uncertain significance (Oct 05, 2022)
4-47600258-T-C		Inborn genetic diseases	Uncertain significance (Mar 31, 2024)
4-47600314-A-G		Inborn genetic diseases	Uncertain significance (Apr 22, 2022)
4-47600317-C-T		Inborn genetic diseases	Uncertain significance (Feb 28, 2024)
4-47600318-G-A		Inborn genetic diseases	Uncertain significance (Oct 06, 2023)
4-47600350-GA-G		CORIN-related disorder	Likely benign (Oct 28, 2019)
4-47603404-G-T			Benign (Dec 31, 2019)
4-47603446-C-G		Inborn genetic diseases	Uncertain significance (Dec 08, 2024)
4-47603448-C-T		Inborn genetic diseases	Uncertain significance (Sep 26, 2023)
4-47603522-A-G		Inborn genetic diseases	Uncertain significance (Nov 26, 2024)
4-47603552-C-T		Inborn genetic diseases	Uncertain significance (Dec 28, 2023)
4-47603592-G-A		Inborn genetic diseases	Uncertain significance (Nov 08, 2022)
4-47603611-T-A			Likely benign (Aug 03, 2017)
4-47603628-T-A		Inborn genetic diseases	Uncertain significance (Jan 26, 2022)
4-47603631-T-A		Inborn genetic diseases	Uncertain significance (Jun 16, 2023)
4-47603651-A-C		Inborn genetic diseases	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORIN	protein_coding	protein_coding	ENST00000273857	22	244109

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.51e-35	0.0000175	125145	0	603	125748	0.00240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.167	608	597	1.02	0.0000323	6943
Missense in Polyphen		252	255.4	0.98668		2938
Synonymous	0.164	224	227	0.986	0.0000135	1871
Loss of Function	0.134	53	54.1	0.980	0.00000245	667

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00821	0.00593
Ashkenazi Jewish	0.00	0.00
East Asian	0.0206	0.0205
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000629	0.000607
Middle Eastern	0.0206	0.0205
South Asian	0.000561	0.000555
Other	0.00164	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine-type endopeptidase involved in atrial natriuretic peptide hormone (NPPA) processing. Converts through proteolytic cleavage the non-functional propeptide NPPA into the active hormone, thereby regulating blood pressure in heart and promoting natriuresis, diuresis and vasodilation. Proteolytic cleavage of pro-NPPA also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Also acts as a regulator of sodium reabsorption in kidney. May also process pro-NPPB the B-type natriuretic peptide.
• Disease: DISEASE: Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]: A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. {ECO:0000269|PubMed:22437503}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Physiological factors;Myometrial Relaxation and Contraction Pathways;corticosteroids and cardioprotection;Cardiac conduction;Muscle contraction (Consensus)

Intolerance Scores

• loftool: 0.201
• rvis_EVS: -0.15
• rvis_percentile_EVS: 42.34

Haploinsufficiency Scores

• pHI: 0.127
• hipred: N
• hipred_score: 0.167
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0322

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Corin
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); pigmentation phenotype; renal/urinary system phenotype; muscle phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: regulation of systemic arterial blood pressure by atrial natriuretic peptide;female pregnancy;regulation of blood pressure;peptide hormone processing;regulation of renal sodium excretion;regulation of cardiac conduction
• Cellular component: extracellular region;plasma membrane;cell surface;actin cytoskeleton;integral component of membrane;nuclear body
• Molecular function: serine-type endopeptidase activity