CORT

cortistatin, the group of Receptor ligands

Basic information

Region (hg38): 1:10450031-10451998

Links

ENSG00000241563 ∙ NCBI:1325 ∙ OMIM:602784 ∙ HGNC:2257 ∙ Uniprot:O00230 ∙ 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 CORT gene.

Variants pathogenicity by type

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

Variants in CORT

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

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

Position	Type	Phenotype	Significance	ClinVar
1-10450243-T-G		not specified	Uncertain significance (Apr 25, 2023)
1-10450270-C-T		not specified	Uncertain significance (Nov 30, 2022)
1-10450312-G-A		not specified	Likely benign (Feb 08, 2023)
1-10451504-G-A		not specified	Uncertain significance (Jan 06, 2023)
1-10451512-G-A		not specified	Uncertain significance (Jun 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORT	protein_coding	protein_coding	ENST00000377049	2	2184

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0131	0.444	124932	0	6	124938	0.0000240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.55	92	58.5	1.57	0.00000311	665
Missense in Polyphen		12	7.8696	1.5248		82
Synonymous	0.158	27	28.1	0.962	0.00000174	231
Loss of Function	-0.985	2	0.959	2.09	4.04e-8	14

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.0000276	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.0000344	0.0000329
Other	0.000172	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to all human somatostatin receptor (SSTR) subtypes. It also inhibits cAMP production induced by forskolin through SSTRs.
• Pathway: Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.266

Intolerance Scores

• loftool: 0.315
• rvis_EVS: -0.14
• rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cort
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;chemical synaptic transmission;regulation of signaling receptor activity
• Cellular component: extracellular region;extracellular space;Fanconi anaemia nuclear complex
• Molecular function: G protein-coupled receptor binding;neuropeptide hormone activity