OR7C1

olfactory receptor family 7 subfamily C member 1, the group of Olfactory receptors, family 7

Basic information

Region (hg38): 19:14789259-14835376

Previous symbols: [ "OR7C4" ]

Links

ENSG00000127530 ∙ NCBI:26664 ∙ ∙ HGNC:8373 ∙ Uniprot:O76099 ∙ 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 OR7C1 gene.

• Inborn genetic diseases (31 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR7C1 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			19	2		21
Total	0	0	29	2	0

Variants in OR7C1

This is a list of pathogenic ClinVar variants found in the OR7C1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-14799204-A-C		not specified	Uncertain significance (Oct 05, 2023)
19-14799376-G-A		not specified	Uncertain significance (Oct 22, 2021)
19-14799455-T-A		not specified	Uncertain significance (Jan 16, 2024)
19-14799495-T-C		not specified	Uncertain significance (Nov 07, 2022)
19-14799517-C-T		not specified	Uncertain significance (Dec 07, 2023)
19-14799578-G-C		not specified	Uncertain significance (Jan 24, 2024)
19-14799674-C-G		not specified	Uncertain significance (Mar 01, 2024)
19-14799676-A-G		not specified	Uncertain significance (Nov 07, 2023)
19-14799744-G-C		not specified	Uncertain significance (Sep 16, 2021)
19-14799784-A-G		not specified	Uncertain significance (Nov 18, 2022)
19-14799806-C-T		not specified	Uncertain significance (Jun 18, 2021)
19-14799857-A-G		not specified	Uncertain significance (Dec 18, 2023)
19-14799862-A-G		not specified	Uncertain significance (Apr 05, 2023)
19-14799940-A-G		not specified	Uncertain significance (Jun 18, 2021)
19-14799959-A-T		not specified	Uncertain significance (Jul 14, 2023)
19-14800018-G-A		not specified	Uncertain significance (Oct 03, 2022)
19-14800034-A-G		not specified	Uncertain significance (May 09, 2023)
19-14827332-G-A		not specified	Uncertain significance (Jun 11, 2021)
19-14827397-G-C		not specified	Uncertain significance (Dec 14, 2021)
19-14827446-G-A		not specified	Uncertain significance (Apr 08, 2023)
19-14827466-T-C		not specified	Uncertain significance (Mar 21, 2023)
19-14827484-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-14827500-C-G		not specified	Uncertain significance (Jan 24, 2024)
19-14827508-A-C		not specified	Uncertain significance (Sep 01, 2021)
19-14827562-G-A		not specified	Uncertain significance (Aug 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR7C1	protein_coding	protein_coding	ENST00000248073	1	1066

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	0.677	148	173	0.855	0.00000852	2076
Missense in Polyphen		58	53.886	1.0763		704
Synonymous	-0.0711	78	77.2	1.01	0.00000433	690
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;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: 0.539
• rvis_EVS: 1.68
• rvis_percentile_EVS: 96.38

Haploinsufficiency Scores

• pHI: 0.0442
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0465

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1352

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;spermatogenesis;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