GPR137C

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

Basic information

Region (hg38): 14:52552835-52637713

Links

ENSG00000180998 ∙ NCBI:283554 ∙ ∙ HGNC:25445 ∙ Uniprot:Q8N3F9 ∙ 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 GPR137C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR137C 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in GPR137C

This is a list of pathogenic ClinVar variants found in the GPR137C region.

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

Position	Type	Phenotype	Significance	ClinVar
14-52553154-G-A		not specified	Uncertain significance (Mar 01, 2024)
14-52553167-G-C		not specified	Uncertain significance (Aug 02, 2021)
14-52553173-C-T		not specified	Uncertain significance (Dec 19, 2023)
14-52553188-C-T		not specified	Uncertain significance (Jul 15, 2021)
14-52553203-A-C		not specified	Uncertain significance (Sep 15, 2021)
14-52553205-C-G		not specified	Uncertain significance (Aug 08, 2022)
14-52553272-C-T		not specified	Uncertain significance (May 17, 2023)
14-52553332-C-G		not specified	Uncertain significance (Apr 13, 2022)
14-52553364-C-G		not specified	Uncertain significance (Sep 15, 2021)
14-52553506-A-G		not specified	Uncertain significance (Jan 23, 2024)
14-52553547-C-T		not specified	Uncertain significance (Jul 06, 2021)
14-52553560-C-T		not specified	Uncertain significance (Jun 24, 2022)
14-52553589-G-A		not specified	Uncertain significance (May 08, 2023)
14-52598275-A-T		not specified	Uncertain significance (Jun 28, 2023)
14-52598278-T-C		not specified	Uncertain significance (Dec 28, 2022)
14-52600177-G-T		not specified	Uncertain significance (Aug 10, 2023)
14-52634991-G-A		not specified	Uncertain significance (Jul 20, 2022)
14-52634997-G-A		not specified	Uncertain significance (Jan 09, 2024)
14-52635105-C-A		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR137C	protein_coding	protein_coding	ENST00000321662	7	84566

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.423	0.577	124633	0	9	124642	0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.809	173	206	0.841	0.00000949	2734
Missense in Polyphen		57	72.505	0.78616		959
Synonymous	-1.98	110	86.5	1.27	0.00000422	878
Loss of Function	3.10	4	18.4	0.218	9.44e-7	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000580	0.0000580
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000546	0.0000531
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.387
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.188
• hipred: Y
• hipred_score: 0.765
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0877

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr137c

Gene ontology

• Cellular component: integral component of membrane