GPR108

G protein-coupled receptor 108, the group of 7TM uncharacterized proteins|MicroRNA protein coding host genes

Basic information

Region (hg38): 19:6729914-6737580

Links

ENSG00000125734 ∙ NCBI:56927 ∙ OMIM:618491 ∙ HGNC:17829 ∙ Uniprot:Q9NPR9 ∙ 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 GPR108 gene.

• not_specified (79 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR108 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001080452.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			72	6		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR108	protein_coding	protein_coding	ENST00000264080	18	7690

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.82e-13	0.351	124730	0	107	124837	0.000429

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.528	299	326	0.918	0.0000195	3508
Missense in Polyphen		79	92.962	0.84981		1061
Synonymous	0.0392	143	144	0.996	0.00000967	1050
Loss of Function	1.27	24	31.7	0.756	0.00000145	364

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000245
Ashkenazi Jewish	0.00	0.00
East Asian	0.000779	0.000723
Finnish	0.000142	0.000139
European (Non-Finnish)	0.000514	0.000503
Middle Eastern	0.000779	0.000723
South Asian	0.000882	0.000883
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.759
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.64

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.229
• ghis: 0.478

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.992

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr108

Gene ontology

• Cellular component: integral component of membrane