OGFR

opioid growth factor receptor

Basic information

Region (hg38): 20:62804835-62814000

Links

ENSG00000060491 ∙ NCBI:11054 ∙ OMIM:606459 ∙ HGNC:15768 ∙ Uniprot:Q9NZT2 ∙ 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 OGFR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OGFR 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				8		8
missense			49	9		58
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	49	18	0

Variants in OGFR

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

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

Position	Type	Phenotype	Significance	ClinVar
20-62807529-C-G			Likely benign (Jun 08, 2018)
20-62808278-C-T		not specified	Likely benign (Jan 04, 2024)
20-62809618-C-T		not specified	Uncertain significance (Sep 02, 2024)
20-62810564-A-G		not specified	Uncertain significance (Jun 05, 2023)
20-62811478-A-G		not specified	Likely benign (Oct 11, 2024)
20-62811529-A-G		not specified	Uncertain significance (Nov 25, 2024)
20-62811591-C-T		not specified	Uncertain significance (Jan 18, 2022)
20-62812250-G-C		not specified	Uncertain significance (Dec 28, 2022)
20-62812307-C-T		not specified	Uncertain significance (Dec 28, 2024)
20-62812316-G-A		not specified	Uncertain significance (Dec 10, 2024)
20-62812346-G-A		not specified	Likely benign (Aug 02, 2021)
20-62812355-C-G		not specified	Uncertain significance (May 13, 2024)
20-62812360-G-A		not specified	Uncertain significance (Apr 19, 2024)
20-62812373-C-T		not specified	Uncertain significance (Dec 13, 2022)
20-62812406-G-A		not specified	Uncertain significance (Feb 23, 2023)
20-62812434-C-G		not specified	Uncertain significance (Nov 24, 2024)
20-62812486-A-G		not specified	Uncertain significance (Jul 05, 2023)
20-62812549-G-A		not specified	Uncertain significance (Apr 13, 2023)
20-62812579-G-A		not specified	Likely benign (Apr 22, 2024)
20-62812580-A-C		not specified	Uncertain significance (May 11, 2022)
20-62812587-C-G		not specified	Uncertain significance (Aug 19, 2024)
20-62812597-C-G		not specified	Uncertain significance (Oct 12, 2022)
20-62812606-G-A		not specified	Uncertain significance (Jul 10, 2024)
20-62812616-A-G		not specified	Likely benign (Feb 27, 2024)
20-62812627-G-T		not specified	Uncertain significance (May 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OGFR	protein_coding	protein_coding	ENST00000290291	7	9166

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0339	0.959	125454	0	15	125469	0.0000598

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.809	359	405	0.887	0.0000260	4283
Missense in Polyphen		85	117.61	0.72273		1315
Synonymous	-0.342	181	175	1.03	0.0000122	1388
Loss of Function	2.34	5	14.7	0.341	9.80e-7	142

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.000101	0.0000996
East Asian	0.0000544	0.0000544
Finnish	0.000324	0.000323
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for opioid growth factor (OGF), also known as Met-enkephalin. Seems to be involved in growth regulation.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.719
• rvis_EVS: 1.05
• rvis_percentile_EVS: 91.34

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.281
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.522

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ogfr

Gene ontology

• Biological process: regulation of cell growth;opioid receptor signaling pathway
• Cellular component: cellular_component;nucleus;cytoplasm;membrane
• Molecular function: opioid receptor activity;protein binding