OR51H1

olfactory receptor family 51 subfamily H member 1, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:4859617-4863652

Previous symbols: [ "OR51H1P" ]

Links

ENSG00000290649

∙ NCBI:401663 ∙ ∙ HGNC:14833 ∙ Uniprot:Q8NH63 ∙ 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 OR51H1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51H1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51H1	protein_coding	protein_coding	ENST00000322059	1	909

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.112	0.787	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00617	171	171	1.00	0.00000904	1943
Missense in Polyphen		58	49.14	1.1803		618
Synonymous	0.508	65	70.4	0.923	0.00000392	655
Loss of Function	1.29	2	5.15	0.388	3.02e-7	64

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 receptor activity;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Haploinsufficiency Scores

pHI: 0.131
hipred
hipred_score
ghis: 0.394

Mouse Genome Informatics

Gene name: Olfr555
Phenotype

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