OR11A1

olfactory receptor family 11 subfamily A member 1, the group of Olfactory receptors, family 11

Basic information

Region (hg38): 6:29425504-29457071

Previous symbols: [ "OR11A2" ]

Links

ENSG00000204694 ∙ ∙ ∙ HGNC:8176 ∙ Uniprot:Q9GZK7 ∙ 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 OR11A1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR11A1 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			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			24	3	1	28
Total	0	0	36	4	1

Variants in OR11A1

This is a list of pathogenic ClinVar variants found in the OR11A1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29426735-G-A		not specified	Uncertain significance (Oct 03, 2022)
6-29426735-G-C		not specified	Uncertain significance (Sep 14, 2023)
6-29426747-G-A		not specified	Uncertain significance (Nov 21, 2022)
6-29426771-A-C		not specified	Uncertain significance (Nov 05, 2021)
6-29426830-A-G		not specified	Uncertain significance (Jul 12, 2023)
6-29426878-G-C		not specified	Uncertain significance (May 13, 2024)
6-29426915-A-C		not specified	Uncertain significance (Oct 12, 2022)
6-29426947-C-T		not specified	Uncertain significance (Apr 08, 2022)
6-29427221-G-A		not specified	Likely benign (Mar 29, 2022)
6-29427242-G-T		not specified	Uncertain significance (Apr 11, 2023)
6-29427326-C-T		not specified	Uncertain significance (May 29, 2024)
6-29427409-G-A		not specified	Uncertain significance (Nov 30, 2022)
6-29427467-T-C		not specified	Uncertain significance (Apr 25, 2022)
6-29427557-A-G		not specified	Uncertain significance (Mar 06, 2023)
6-29427557-A-T		not specified	Uncertain significance (May 24, 2024)
6-29427580-T-A		not specified	Uncertain significance (Jul 26, 2022)
6-29440095-T-A		not specified	Uncertain significance (Apr 29, 2024)
6-29440096-C-A		not specified	Uncertain significance (Sep 21, 2023)
6-29440149-T-C		not specified	Uncertain significance (Jan 23, 2024)
6-29440163-A-G		not specified	Uncertain significance (Dec 15, 2021)
6-29440233-C-A		not specified	Uncertain significance (Apr 07, 2022)
6-29440277-C-T		not specified	Uncertain significance (Feb 05, 2024)
6-29440278-G-A		not specified	Likely benign (Jan 26, 2023)
6-29440338-C-A		not specified	Uncertain significance (Jan 18, 2023)
6-29440341-C-A		not specified	Uncertain significance (Sep 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR11A1	protein_coding	protein_coding	ENST00000377149	1	31568

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00255	0.569	123392	0	15	123407	0.0000608

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.305	159	170	0.934	0.00000812	2032
Missense in Polyphen		46	44.689	1.0293		599
Synonymous	-0.419	75	70.5	1.06	0.00000353	699
Loss of Function	0.311	4	4.73	0.846	1.97e-7	68

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000452	0.0000451
Middle Eastern	0.000110	0.000109
South Asian	0.000132	0.000132
Other	0.00	0.00

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)

Intolerance Scores

• loftool: 0.392
• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.25

Haploinsufficiency Scores

• pHI: 0.165
• hipred: N
• hipred_score: 0.146
• ghis: 0.394

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0486

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr96

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