CRHBP

corticotropin releasing hormone binding protein

Basic information

Region (hg38): 5:76953044-76981158

Links

ENSG00000145708 ∙ NCBI:1393 ∙ OMIM:122559 ∙ HGNC:2356 ∙ Uniprot:P24387 ∙ 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 CRHBP gene.

• Inborn genetic diseases (7 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRHBP 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					2	2
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	2

Variants in CRHBP

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

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

Position	Type	Phenotype	Significance	ClinVar
5-76953174-A-G		not specified	Uncertain significance (May 11, 2022)
5-76953668-G-C		not specified	Uncertain significance (May 11, 2022)
5-76953678-G-A			Benign (Aug 15, 2018)
5-76954029-G-A		not specified	Uncertain significance (Dec 17, 2023)
5-76954076-G-A		not specified	Uncertain significance (Jan 30, 2024)
5-76954080-G-T		not specified	Uncertain significance (Feb 27, 2024)
5-76954120-C-G			Benign (Aug 16, 2018)
5-76954145-G-C		not specified	Uncertain significance (Oct 06, 2022)
5-76955687-T-C		not specified	Uncertain significance (Dec 13, 2023)
5-76958869-G-A		not specified	Uncertain significance (Dec 12, 2023)
5-76963355-G-A		not specified	Uncertain significance (Dec 07, 2021)
5-76963369-A-G		not specified	Uncertain significance (May 03, 2023)
5-76968796-G-T		not specified	Uncertain significance (Jul 05, 2023)
5-76968829-G-A		not specified	Uncertain significance (Dec 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRHBP	protein_coding	protein_coding	ENST00000274368	7	28446

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.215	0.784	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.35	137	189	0.725	0.00000981	2111
Missense in Polyphen		30	59.268	0.50618		661
Synonymous	1.63	55	72.6	0.757	0.00000389	624
Loss of Function	2.74	4	15.7	0.254	9.17e-7	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy.
• Pathway: Corticotropin-releasing hormone signaling pathway;Signaling by GPCR;Signal Transduction;CRH;Class B/2 (Secretin family receptors);GPCR ligand binding (Consensus)

Recessive Scores

• pRec: 0.0999

Intolerance Scores

• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.680
• hipred: Y
• hipred_score: 0.806
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.797

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Crhbp
• Phenotype: growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: synaptic transmission, dopaminergic;maternal aggressive behavior;inflammatory response;signal transduction;female pregnancy;learning or memory;hormone-mediated signaling pathway;cellular response to drug;cellular response to potassium ion;hormone metabolic process;regulated exocytosis;behavioral response to ethanol;regulation of corticotropin secretion;negative regulation of corticotropin secretion;cellular response to calcium ion;cellular response to cocaine;cellular response to cAMP;cellular response to tumor necrosis factor;cellular response to estrogen stimulus;cellular response to estradiol stimulus;regulation of cellular response to stress;cellular response to gonadotropin-releasing hormone;negative regulation of corticotropin-releasing hormone receptor activity;regulation of NMDA receptor activity
• Cellular component: extracellular region;extracellular space;nucleus;secondary lysosome;multivesicular body;endoplasmic reticulum;Golgi apparatus;microtubule;secretory granule;dendrite;dense core granule;varicosity;perikaryon;axon terminus
• Molecular function: protein binding;peptide binding;corticotropin-releasing hormone binding