GPR107

G protein-coupled receptor 107, the group of 7TM uncharacterized proteins

Basic information

Region (hg38): 9:130053426-130140169

Links

ENSG00000148358NCBI:57720OMIM:618490HGNC:17830Uniprot:Q5VW38AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR107 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR107 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
39
clinvar
39
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 39 0 0

Variants in GPR107

This is a list of pathogenic ClinVar variants found in the GPR107 region.

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

Position Type Phenotype Significance ClinVar
9-130053937-C-T not specified Uncertain significance (Jun 23, 2023)2605870
9-130053954-G-C not specified Uncertain significance (Apr 19, 2024)3282184
9-130053961-C-T not specified Uncertain significance (Apr 10, 2025)4031341
9-130053970-G-T not specified Uncertain significance (Apr 08, 2023)2535493
9-130053979-G-A not specified Uncertain significance (Apr 10, 2025)4031348
9-130053985-C-T not specified Uncertain significance (Apr 15, 2025)4031349
9-130054006-C-T not specified Uncertain significance (Aug 27, 2024)3521697
9-130054038-C-G not specified Uncertain significance (Jun 10, 2024)3282188
9-130054039-C-T not specified Uncertain significance (Aug 27, 2024)3521695
9-130075681-A-G not specified Uncertain significance (Oct 08, 2024)2398815
9-130075748-C-T not specified Uncertain significance (Jan 10, 2025)3855035
9-130076430-C-T not specified Uncertain significance (Nov 11, 2024)3521692
9-130076431-G-A not specified Uncertain significance (Oct 21, 2024)3521693
9-130077376-T-A not specified Uncertain significance (Dec 27, 2023)3101374
9-130079691-G-A not specified Uncertain significance (May 15, 2025)4031351
9-130079692-A-G not specified Uncertain significance (Apr 30, 2025)4031345
9-130079700-G-T not specified Uncertain significance (Apr 14, 2025)4031342
9-130079749-A-G not specified Likely benign (Jun 07, 2025)4031355
9-130090881-C-G not specified Uncertain significance (Aug 14, 2023)2618060
9-130090943-G-A not specified Uncertain significance (Dec 02, 2022)2332105
9-130090952-T-G not specified Uncertain significance (Nov 25, 2024)3521696
9-130092299-C-G not specified Uncertain significance (May 29, 2025)4031353
9-130092334-C-A not specified Uncertain significance (Feb 06, 2023)2480867
9-130092375-A-C not specified Uncertain significance (Nov 03, 2022)2322416
9-130099480-G-T not specified Uncertain significance (Apr 07, 2025)4031343

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GPR107protein_codingprotein_codingENST00000372406 2086744
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.2890.7111257330131257460.0000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.822193090.7080.00001563901
Missense in Polyphen4080.050.499691027
Synonymous-0.1291231211.010.000006611145
Loss of Function4.17834.40.2320.00000162430

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009050.0000904
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00006170.0000615
Middle Eastern0.000.00
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in Golgi-to-ER retrograde transport. Functions as a host factor required for infection by Pseudomonas aeruginosa exotoxin A and Campylobacter jejuni CDT toxins. {ECO:0000269|PubMed:25031321}.;

Recessive Scores

pRec
0.0856

Intolerance Scores

loftool
0.111
rvis_EVS
-0.44
rvis_percentile_EVS
24.46

Haploinsufficiency Scores

pHI
0.0750
hipred
N
hipred_score
0.385
ghis
0.515

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
K
gene_indispensability_pred
N
gene_indispensability_score
0.249

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gpr107
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; embryo phenotype; growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
clathrin-dependent endocytosis
Cellular component
nucleoplasm;early endosome;Golgi apparatus;integral component of membrane;clathrin-coated vesicle
Molecular function
clathrin heavy chain binding