GPR157

G protein-coupled receptor 157, the group of 7TM uncharacterized proteins

Basic information

Region (hg38): 1:9100304-9129102

Links

ENSG00000180758 ∙ NCBI:80045 ∙ ∙ HGNC:23687 ∙ Uniprot:Q5UAW9 ∙ 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 GPR157 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR157 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			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	0

Variants in GPR157

This is a list of pathogenic ClinVar variants found in the GPR157 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-9104483-G-T		not specified	Uncertain significance (May 26, 2024)
1-9104484-C-T		not specified	Uncertain significance (Mar 20, 2023)
1-9104498-G-A		not specified	Uncertain significance (Aug 17, 2022)
1-9104505-C-T		not specified	Uncertain significance (Feb 07, 2023)
1-9104507-G-C		not specified	Uncertain significance (Jan 23, 2024)
1-9104514-T-C		not specified	Likely benign (May 03, 2023)
1-9104561-C-T		not specified	Uncertain significance (Dec 20, 2021)
1-9104571-C-A		not specified	Uncertain significance (Mar 31, 2023)
1-9104571-C-T		not specified	Uncertain significance (Mar 16, 2022)
1-9104574-C-T		not specified	Uncertain significance (Nov 07, 2022)
1-9104585-A-G		not specified	Uncertain significance (Dec 01, 2022)
1-9104633-C-T		not specified	Uncertain significance (Apr 15, 2024)
1-9105539-G-C		not specified	Uncertain significance (May 31, 2023)
1-9105547-C-T		not specified	Uncertain significance (Sep 25, 2023)
1-9105634-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-9105667-G-C		not specified	Uncertain significance (May 26, 2022)
1-9105677-T-G		not specified	Uncertain significance (Mar 19, 2024)
1-9111296-G-A		not specified	Uncertain significance (May 23, 2024)
1-9111302-G-T		not specified	Uncertain significance (Nov 03, 2023)
1-9111355-G-A		not specified	Uncertain significance (Nov 22, 2021)
1-9111377-G-T		not specified	Uncertain significance (Sep 16, 2021)
1-9111419-C-T		not specified	Uncertain significance (Oct 26, 2021)
1-9128649-C-A		not specified	Uncertain significance (Sep 16, 2021)
1-9128664-A-G		not specified	Uncertain significance (Feb 14, 2023)
1-9128687-C-A		not specified	Uncertain significance (Jan 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR157	protein_coding	protein_coding	ENST00000377411	4	28866

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000975	0.826	125677	0	60	125737	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0636	204	201	1.01	0.0000121	2077
Missense in Polyphen		85	85.98	0.9886		941
Synonymous	0.994	86	98.6	0.873	0.00000623	772
Loss of Function	1.17	6	9.98	0.601	4.30e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000600	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.0000267	0.0000264
Middle Eastern	0.000600	0.000598
South Asian	0.00158	0.00144
Other	0.000184	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor that promotes neuronal differentiation of radial glial progenitors (RGPs). The activity of this receptor is mediated by a G(q)-protein that activates a phosphatidylinositol-calcium second messenger. {ECO:0000250|UniProtKB:Q8C206}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.528
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.71

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.177
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.299

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr157

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;circadian behavior;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;radial glial cell differentiation
• Cellular component: integral component of membrane;ciliary membrane
• Molecular function: G protein-coupled receptor activity