GPR137B

G protein-coupled receptor 137B, the group of 7TM uncharacterized proteins

Basic information

Region (hg38): 1:236142504-236221865

Previous symbols: [ "TM7SF1" ]

Links

ENSG00000077585 ∙ NCBI:7107 ∙ OMIM:604658 ∙ HGNC:11862 ∙ Uniprot:O60478 ∙ 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 GPR137B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR137B 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in GPR137B

This is a list of pathogenic ClinVar variants found in the GPR137B region.

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

Position	Type	Phenotype	Significance	ClinVar
1-236142636-G-T		not specified	Uncertain significance (Jan 23, 2023)
1-236142662-G-A		not specified	Uncertain significance (Jul 14, 2022)
1-236142687-A-G		not specified	Uncertain significance (Jan 26, 2022)
1-236142735-C-A		not specified	Uncertain significance (Nov 14, 2023)
1-236142753-G-C		not specified	Uncertain significance (Feb 22, 2023)
1-236142768-A-C		not specified	Uncertain significance (Jul 06, 2021)
1-236142833-C-T		not specified	Uncertain significance (Dec 07, 2023)
1-236142891-C-G		not specified	Uncertain significance (Oct 25, 2023)
1-236142905-C-T		not specified	Uncertain significance (Dec 07, 2021)
1-236142950-A-G		not specified	Uncertain significance (May 24, 2024)
1-236142951-G-T		not specified	Uncertain significance (Dec 27, 2023)
1-236143007-C-T		not specified	Uncertain significance (Jun 17, 2022)
1-236168734-C-G		not specified	Uncertain significance (Mar 06, 2023)
1-236178430-G-A		not specified	Uncertain significance (Mar 11, 2022)
1-236178548-C-T		not specified	Uncertain significance (Apr 04, 2024)
1-236178568-G-A		not specified	Uncertain significance (Sep 20, 2023)
1-236178574-C-T		not specified	Uncertain significance (Jan 23, 2023)
1-236178587-T-A		not specified	Uncertain significance (Aug 17, 2022)
1-236179888-G-A		not specified	Uncertain significance (Sep 01, 2021)
1-236179908-C-G		not specified	Uncertain significance (Dec 16, 2023)
1-236179939-C-T		not specified	Uncertain significance (Jun 12, 2023)
1-236183832-T-G		not specified	Uncertain significance (Dec 12, 2023)
1-236183862-T-G		not specified	Uncertain significance (Aug 02, 2022)
1-236183889-A-C		not specified	Uncertain significance (Feb 10, 2023)
1-236205210-G-A		not specified	Uncertain significance (Apr 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR137B	protein_coding	protein_coding	ENST00000366592	7	79334

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.42e-11	0.102	125605	0	143	125748	0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.240	229	219	1.05	0.0000111	2564
Missense in Polyphen		77	73.047	1.0541		951
Synonymous	0.225	95	97.8	0.971	0.00000518	814
Loss of Function	0.460	18	20.2	0.890	0.00000109	217

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000768	0.000768
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.000791	0.000786
European (Non-Finnish)	0.000655	0.000651
Middle Eastern	0.000217	0.000217
South Asian	0.000817	0.000817
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.855
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.319
• hipred: N
• hipred_score: 0.425
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0642

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr137b

Gene ontology

• Cellular component: lysosomal membrane;integral component of plasma membrane;membrane