OR7D4

olfactory receptor family 7 subfamily D member 4, the group of Olfactory receptors, family 7

Basic information

Region (hg38): 19:9210275-9219589

Previous symbols: [ "OR7D4P" ]

Links

ENSG00000174667 ∙ NCBI:125958 ∙ OMIM:611538 ∙ HGNC:8380 ∙ Uniprot:Q8NG98 ∙ 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 OR7D4 gene.

• Inborn genetic diseases (14 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR7D4 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				1	1	2
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	1

Variants in OR7D4

This is a list of pathogenic ClinVar variants found in the OR7D4 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9213913-C-T		not specified	Uncertain significance (Dec 13, 2022)
19-9213914-G-A			Benign (May 18, 2018)
19-9213929-T-A		not specified	Uncertain significance (Mar 30, 2022)
19-9213991-G-C		not specified	Uncertain significance (May 26, 2023)
19-9214021-T-A		not specified	Uncertain significance (Jan 03, 2024)
19-9214035-G-A		not specified	Uncertain significance (Feb 06, 2023)
19-9214120-T-G		not specified	Uncertain significance (Dec 21, 2021)
19-9214185-T-G		not specified	Uncertain significance (Jan 03, 2024)
19-9214221-A-T		not specified	Uncertain significance (Sep 01, 2021)
19-9214240-A-T		not specified	Uncertain significance (Oct 03, 2022)
19-9214327-C-T		not specified	Uncertain significance (Mar 16, 2023)
19-9214342-A-G			Likely benign (May 18, 2018)
19-9214407-A-G		not specified	Uncertain significance (Jan 17, 2024)
19-9214420-G-A		not specified	Uncertain significance (Jan 17, 2023)
19-9214484-C-T		not specified	Uncertain significance (Mar 01, 2024)
19-9214510-T-C		not specified	Uncertain significance (Dec 06, 2021)
19-9214591-C-T		not specified	Uncertain significance (Jan 07, 2022)
19-9214614-G-C		not specified	Uncertain significance (Aug 02, 2021)
19-9214615-A-T		not specified	Uncertain significance (Dec 16, 2023)
19-9214650-A-T		not specified	Uncertain significance (Jan 22, 2024)
19-9214668-G-C		not specified	Uncertain significance (Sep 14, 2022)
19-9214743-A-G		not specified	Uncertain significance (Sep 09, 2021)
19-9214824-T-G		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR7D4	protein_coding	protein_coding	ENST00000308682	1	1017

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0155	0.476	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.492	186	168	1.11	0.00000835	2024
Missense in Polyphen		54	43.016	1.2553		601
Synonymous	-0.945	84	73.7	1.14	0.00000408	665
Loss of Function	-0.663	2	1.21	1.65	4.98e-8	20

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. Selectively activated by androstenone and the related odorous steroid androstadienone.
• 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)

Recessive Scores

• pRec: 0.0812

Intolerance Scores

• loftool: 0.804
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.55

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.108

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr39

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