GPR153

G protein-coupled receptor 153, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 1:6247353-6261098

Links

ENSG00000158292 ∙ NCBI:387509 ∙ OMIM:614269 ∙ HGNC:23618 ∙ Uniprot:Q6NV75 ∙ 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 GPR153 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR153 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	1	3
missense		1	64	4	2	71
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	64	6	3

Variants in GPR153

This is a list of pathogenic ClinVar variants found in the GPR153 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-6249402-C-G		not specified	Uncertain significance (Mar 12, 2024)
1-6249417-G-C		not specified	Uncertain significance (Aug 28, 2023)
1-6249430-C-T		not specified	Uncertain significance (Dec 07, 2021)
1-6249432-C-G		not specified	Uncertain significance (Jul 27, 2022)
1-6249450-C-T		not specified	Uncertain significance (Oct 26, 2022)
1-6249469-C-T		not specified	Uncertain significance (Apr 18, 2023)
1-6249471-C-G		not specified	Uncertain significance (Jul 08, 2022)
1-6249481-G-C		not specified	Uncertain significance (Feb 28, 2023)
1-6249484-G-A		not specified	Uncertain significance (Aug 30, 2021)
1-6249492-C-G		not specified	Uncertain significance (Jun 11, 2021)
1-6249493-C-T		not specified	Uncertain significance (May 23, 2023)
1-6249501-G-A		not specified	Uncertain significance (Mar 29, 2023)
1-6249558-G-C		not specified	Uncertain significance (Feb 28, 2023)
1-6249561-T-G		not specified	Uncertain significance (Sep 01, 2021)
1-6249579-T-G		not specified	Uncertain significance (Dec 03, 2021)
1-6249588-G-A		not specified	Uncertain significance (Jul 26, 2022)
1-6249601-G-A		not specified	Uncertain significance (Dec 07, 2021)
1-6249624-A-T		not specified	Uncertain significance (Feb 28, 2023)
1-6249663-G-T		not specified	Uncertain significance (Nov 19, 2022)
1-6249688-C-T		not specified	Uncertain significance (Dec 15, 2023)
1-6249694-G-A		not specified	Uncertain significance (Sep 15, 2021)
1-6249706-C-T		not specified	Uncertain significance (May 30, 2024)
1-6249727-C-G		not specified	Uncertain significance (Nov 14, 2023)
1-6249729-G-A		not specified	Uncertain significance (Jul 14, 2021)
1-6249730-G-A		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR153	protein_coding	protein_coding	ENST00000377893	5	13630

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.88e-7	0.479	125706	0	29	125735	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.669	240	271	0.886	0.0000184	3799
Missense in Polyphen		126	151.06	0.83413		1751
Synonymous	0.133	121	123	0.985	0.00000864	1394
Loss of Function	0.761	11	14.1	0.781	6.04e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000460	0.000449
Ashkenazi Jewish	0.00	0.00
East Asian	0.000279	0.000272
Finnish	0.0000501	0.0000462
European (Non-Finnish)	0.000101	0.0000967
Middle Eastern	0.000279	0.000272
South Asian	0.0000349	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Pathway: Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• pHI: 0.196
• hipred: N
• hipred_score: 0.287
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.355

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr153

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity