OR11H12

olfactory receptor family 11 subfamily H member 12, the group of Olfactory receptors, family 11

Basic information

Region (hg38): 14:18601117-18602097

Links

ENSG00000257115 ∙ NCBI:440153 ∙ ∙ HGNC:30738 ∙ Uniprot:B2RN74 ∙ 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 OR11H12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR11H12 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				3		3
missense			40	2		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	5	0

Variants in OR11H12

This is a list of pathogenic ClinVar variants found in the OR11H12 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-18601123-C-A		not specified	Uncertain significance (May 10, 2024)
14-18601129-A-G		not specified	Uncertain significance (Dec 21, 2023)
14-18601137-G-T		not specified	Uncertain significance (Oct 22, 2021)
14-18601202-T-C		not specified	Uncertain significance (Sep 29, 2023)
14-18601208-G-T		not specified	Uncertain significance (Nov 08, 2022)
14-18601213-A-C		not specified	Uncertain significance (Aug 13, 2021)
14-18601217-G-A		not specified	Uncertain significance (Jun 03, 2022)
14-18601217-G-C		not specified	Uncertain significance (Apr 25, 2022)
14-18601235-T-C		not specified	Uncertain significance (Oct 28, 2023)
14-18601252-T-G		not specified	Uncertain significance (May 26, 2022)
14-18601262-C-T		not specified	Uncertain significance (Sep 01, 2021)
14-18601318-T-C			Likely benign (Nov 01, 2022)
14-18601322-G-A			Likely benign (Jul 01, 2023)
14-18601339-T-A		not specified	Uncertain significance (Mar 21, 2023)
14-18601379-A-G		not specified	Uncertain significance (Apr 28, 2022)
14-18601478-C-G		not specified	Uncertain significance (Mar 29, 2022)
14-18601482-G-C		not specified	Uncertain significance (Jan 18, 2022)
14-18601496-G-A		not specified	Uncertain significance (Jul 08, 2022)
14-18601503-T-C			Likely benign (Dec 01, 2022)
14-18601574-G-A		not specified	Uncertain significance (Dec 17, 2021)
14-18601642-G-T		not specified	Uncertain significance (Feb 27, 2023)
14-18601689-T-G		not specified	Uncertain significance (Sep 16, 2021)
14-18601698-T-G		not specified	Uncertain significance (Oct 12, 2021)
14-18601708-C-T		not specified	Uncertain significance (Apr 07, 2022)
14-18601758-C-T			Likely benign (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR11H12	protein_coding	protein_coding	ENST00000550708	1	1085

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.34	205	89.5	2.29	0.00000391	1993
Missense in Polyphen		57	22.886	2.4906		597
Synonymous	-4.38	64	32.3	1.98	0.00000139	602
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);Olfactory receptor activity (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity