GAST

gastrin, the group of Neuropeptides

Basic information

Region (hg38): 17:41712331-41715969

Previous symbols: [ "GAS" ]

Links

ENSG00000184502 ∙ NCBI:2520 ∙ OMIM:137250 ∙ HGNC:4164 ∙ Uniprot:P01350 ∙ 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 GAST gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAST 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				1		1
missense			10	1	1	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	2	1

Variants in GAST

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

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

Position	Type	Phenotype	Significance	ClinVar
17-41715467-T-G		not specified	Uncertain significance (Jul 14, 2024)
17-41715521-C-A		not specified	Uncertain significance (Mar 19, 2024)
17-41715552-A-G			Benign (Jun 29, 2018)
17-41715555-G-A		not specified	Uncertain significance (Jan 19, 2025)
17-41715591-C-A		not specified	Uncertain significance (Aug 16, 2021)
17-41715610-G-C		not specified	Uncertain significance (Nov 08, 2022)
17-41715616-G-A			Likely benign (Apr 23, 2018)
17-41715629-C-T		not specified	Uncertain significance (Mar 29, 2023)
17-41715641-G-A		not specified	Uncertain significance (Aug 06, 2024)
17-41715781-C-T		not specified	Likely benign (Jan 24, 2023)
17-41715796-G-A		not specified	Uncertain significance (Jun 05, 2023)
17-41715801-T-C		not specified	Uncertain significance (Oct 06, 2024)
17-41715847-G-A		not specified	Uncertain significance (Feb 10, 2022)
17-41715850-G-T		not specified	Uncertain significance (Nov 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GAST	protein_coding	protein_coding	ENST00000329402	2	3644

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00274	0.584	125728	0	8	125736	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0498	59	60.1	0.982	0.00000348	636
Missense in Polyphen		21	27.58	0.76141		281
Synonymous	0.00873	24	24.1	0.998	0.00000129	210
Loss of Function	0.357	4	4.85	0.825	3.59e-7	33

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine.
• Pathway: Gastric acid secretion - Homo sapiens (human);Pantoprazole Action Pathway;Rabeprazole Action Pathway;Esomeprazole Action Pathway;Omeprazole Action Pathway;Lansoprazole Action Pathway;Gastric Acid Production;Nizatidine Action Pathway;Cimetidine Action Pathway;Famotidine Action Pathway;Ranitidine Action Pathway;Betazole Action Pathway;Roxatidine acetate Action Pathway;Metiamide Action Pathway;Pirenzepine Action Pathway;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Gastrin;GPCR signaling-G alpha i;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.372

Intolerance Scores

• loftool: 0.725
• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.87

Haploinsufficiency Scores

• pHI: 0.0671
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.838

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gast
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; immune system phenotype; digestive/alimentary phenotype; neoplasm

Gene ontology

• Biological process: signal transduction;G protein-coupled receptor signaling pathway;regulation of signaling receptor activity;response to food
• Cellular component: extracellular region;extracellular space
• Molecular function: hormone activity;protein binding