OGFRL1

opioid growth factor receptor like 1

Basic information

Region (hg38): 6:71288811-71309059

Links

ENSG00000119900 ∙ NCBI:79627 ∙ ∙ HGNC:21378 ∙ Uniprot:Q5TC84 ∙ 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 OGFRL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OGFRL1 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			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in OGFRL1

This is a list of pathogenic ClinVar variants found in the OGFRL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-71289016-C-T		not specified	Uncertain significance (Apr 12, 2022)
6-71289018-G-A		not specified	Uncertain significance (Oct 29, 2021)
6-71289079-A-G		not specified	Uncertain significance (Nov 27, 2023)
6-71289093-C-A		not specified	Uncertain significance (Aug 31, 2023)
6-71289129-C-G		not specified	Uncertain significance (Nov 17, 2023)
6-71289140-C-G		not specified	Uncertain significance (Apr 20, 2024)
6-71293323-C-A		not specified	Uncertain significance (Jun 10, 2024)
6-71293327-A-C		not specified	Uncertain significance (Oct 17, 2023)
6-71301578-G-C		not specified	Uncertain significance (May 30, 2024)
6-71301585-C-T		not specified	Uncertain significance (Jun 02, 2024)
6-71301586-G-A		not specified	Uncertain significance (Feb 27, 2023)
6-71301639-C-G		not specified	Uncertain significance (Feb 22, 2023)
6-71301640-G-A		not specified	Uncertain significance (Feb 09, 2023)
6-71301685-C-T		not specified	Uncertain significance (Dec 19, 2022)
6-71301690-G-A		not specified	Likely benign (Sep 22, 2023)
6-71301715-C-A		not specified	Uncertain significance (May 07, 2024)
6-71301719-G-A		not specified	Uncertain significance (Apr 20, 2024)
6-71301721-A-G		not specified	Uncertain significance (Jun 18, 2021)
6-71301789-A-C		not specified	Uncertain significance (Nov 17, 2022)
6-71301906-T-G		not specified	Uncertain significance (Sep 22, 2022)
6-71301943-A-C		not specified	Uncertain significance (Feb 05, 2024)
6-71301972-G-A		not specified	Uncertain significance (Sep 14, 2023)
6-71301998-C-A		not specified	Uncertain significance (Mar 17, 2023)
6-71302003-A-C		not specified	Uncertain significance (Aug 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OGFRL1	protein_coding	protein_coding	ENST00000370435	7	20148

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00363	0.988	125731	0	16	125747	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.39	159	217	0.734	0.0000105	2976
Missense in Polyphen		44	85.369	0.51541		1093
Synonymous	0.301	74	77.4	0.956	0.00000387	820
Loss of Function	2.31	7	17.4	0.402	9.72e-7	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000906	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000971	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.0000655	0.0000653
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0745

Intolerance Scores

• loftool: 0.715
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.261
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.125

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ogfrl1

Gene ontology

• Biological process: opioid receptor signaling pathway
• Cellular component: membrane
• Molecular function: opioid receptor activity