OR10H2

olfactory receptor family 10 subfamily H member 2, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 19:15728024-15729052

Links

ENSG00000171942NCBI:26538HGNC:8173Uniprot:O60403AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR10H2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10H2 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
35
clinvar
35
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 35 0 0

Variants in OR10H2

This is a list of pathogenic ClinVar variants found in the OR10H2 region.

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

Position Type Phenotype Significance ClinVar
19-15728050-G-A not specified Uncertain significance (Apr 04, 2023)2510856
19-15728080-A-T not specified Uncertain significance (Jan 08, 2024)3204551
19-15728086-G-C not specified Uncertain significance (Sep 22, 2022)2313053
19-15728171-T-C not specified Uncertain significance (Dec 06, 2022)2333697
19-15728200-C-T not specified Uncertain significance (Aug 28, 2023)2589792
19-15728213-C-T not specified Uncertain significance (Aug 30, 2021)2247208
19-15728221-T-C not specified Uncertain significance (Jun 05, 2023)2556504
19-15728251-G-C not specified Uncertain significance (Apr 19, 2023)2510946
19-15728311-C-T not specified Uncertain significance (May 11, 2022)2288997
19-15728315-C-T not specified Uncertain significance (Aug 02, 2021)2385565
19-15728320-G-A not specified Uncertain significance (Sep 17, 2021)3204547
19-15728321-C-T not specified Uncertain significance (Oct 03, 2022)3204548
19-15728378-C-T not specified Uncertain significance (Jun 22, 2021)2373942
19-15728404-G-A not specified Uncertain significance (Oct 13, 2021)2405937
19-15728408-G-A not specified Uncertain significance (Dec 12, 2023)3204549
19-15728413-G-T not specified Uncertain significance (Feb 27, 2024)3204550
19-15728419-A-G not specified Uncertain significance (Aug 09, 2021)2393651
19-15728449-A-G not specified Uncertain significance (Oct 03, 2022)2344480
19-15728453-G-A not specified Uncertain significance (Feb 22, 2023)2487033
19-15728458-C-T not specified Uncertain significance (Jun 11, 2021)2396053
19-15728501-C-T not specified Uncertain significance (Mar 01, 2023)2457814
19-15728563-A-G not specified Uncertain significance (Dec 08, 2023)3204552
19-15728570-A-T not specified Uncertain significance (Jun 11, 2021)3204553
19-15728605-G-A not specified Uncertain significance (Apr 12, 2023)2536583
19-15728611-G-A not specified Uncertain significance (May 05, 2022)2287627

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR10H2protein_codingprotein_codingENST00000305899 11029
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.002450.56000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.004851941941.000.00001162032
Missense in Polyphen7068.2211.0261819
Synonymous-2.1511286.61.290.00000553690
Loss of Function0.28544.660.8581.99e-754

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Odorant receptor. {ECO:0000305}.;
Pathway
Olfactory transduction - Homo sapiens (human);Olfactory receptor activity;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.503
rvis_EVS
0.64
rvis_percentile_EVS
84.05

Haploinsufficiency Scores

pHI
0.127
hipred
N
hipred_score
0.139
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.112

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumMedium
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Gene ontology

Biological process
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;chemical synaptic transmission;detection of chemical stimulus involved in sensory perception of smell;G protein-coupled serotonin receptor signaling pathway
Cellular component
plasma membrane;integral component of plasma membrane;dendrite
Molecular function
G protein-coupled receptor activity;olfactory receptor activity;G protein-coupled serotonin receptor activity;neurotransmitter receptor activity