OR6C70

olfactory receptor family 6 subfamily C member 70, the group of Olfactory receptors, family 6

Basic information

Region (hg38): 12:55469200-55470138

Links

ENSG00000184954 ∙ NCBI:390327 ∙ ∙ HGNC:31299 ∙ Uniprot:A6NIJ9 ∙ 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 OR6C70 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR6C70 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	0

Variants in OR6C70

This is a list of pathogenic ClinVar variants found in the OR6C70 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-55469246-G-C		not specified	Uncertain significance (Jan 18, 2023)
12-55469279-A-G		not specified	Uncertain significance (Oct 04, 2024)
12-55469297-G-A		not specified	Uncertain significance (Oct 25, 2023)
12-55469313-T-A		not specified	Uncertain significance (Nov 10, 2024)
12-55469367-T-G		not specified	Uncertain significance (Feb 11, 2022)
12-55469385-T-A		not specified	Uncertain significance (Jun 17, 2024)
12-55469388-C-A		not specified	Uncertain significance (Oct 19, 2024)
12-55469435-G-T		not specified	Uncertain significance (Mar 29, 2023)
12-55469537-G-A		not specified	Uncertain significance (Jun 07, 2024)
12-55469546-A-T		not specified	Uncertain significance (Jul 11, 2023)
12-55469552-A-G		not specified	Uncertain significance (Sep 22, 2023)
12-55469604-T-G		not specified	Uncertain significance (Jan 04, 2022)
12-55469613-T-C		not specified	Uncertain significance (Oct 20, 2023)
12-55469652-T-C		not specified	Uncertain significance (Feb 07, 2023)
12-55469676-A-C		not specified	Uncertain significance (Jun 29, 2023)
12-55469747-A-G		not specified	Likely benign (Nov 08, 2024)
12-55469754-G-A		not specified	Uncertain significance (May 29, 2024)
12-55469761-T-A		not specified	Uncertain significance (Dec 10, 2024)
12-55469832-T-C		not specified	Uncertain significance (Dec 03, 2024)
12-55469842-C-A		not specified	Uncertain significance (Aug 21, 2023)
12-55469889-C-T		not specified	Uncertain significance (Jan 22, 2024)
12-55469891-A-G		not specified	Uncertain significance (Jan 23, 2023)
12-55469897-A-T		not specified	Uncertain significance (Sep 01, 2021)
12-55469919-C-A		not specified	Uncertain significance (Aug 14, 2023)
12-55470009-T-C		not specified	Uncertain significance (Mar 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR6C70	protein_coding	protein_coding	ENST00000327335	1	939

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.98e-7	0.0702	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.876	190	159	1.20	0.00000743	2036
Missense in Polyphen		50	42.794	1.1684		623
Synonymous	-1.27	72	59.5	1.21	0.00000280	634
Loss of Function	-1.18	8	5.13	1.56	2.11e-7	82

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.882
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.9

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr814

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