GALR1

galanin receptor 1, the group of Galanin receptors

Basic information

Region (hg38): 18:77249847-77277900

Previous symbols: [ "GALNR1", "GALNR" ]

Links

ENSG00000166573 ∙ NCBI:2587 ∙ OMIM:600377 ∙ HGNC:4132 ∙ Uniprot:P47211 ∙ 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 GALR1 gene.

• Inborn genetic diseases (17 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GALR1 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
missense			18			18
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 GALR1

This is a list of pathogenic ClinVar variants found in the GALR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-77250552-G-C		not specified	Uncertain significance (Jun 27, 2023)
18-77250556-T-G		not specified	Uncertain significance (Aug 10, 2021)
18-77250564-G-A		not specified	Uncertain significance (Jun 09, 2022)
18-77250564-G-T		not specified	Uncertain significance (Feb 27, 2023)
18-77250570-C-T		not specified	Uncertain significance (Sep 01, 2021)
18-77250579-G-A		not specified	Uncertain significance (Aug 09, 2021)
18-77250584-C-G		not specified	Uncertain significance (Oct 05, 2023)
18-77250600-C-T		GALR1-related disorder • not specified	Conflicting classifications of pathogenicity (Mar 20, 2023)
18-77250663-G-A		not specified	Uncertain significance (Jun 06, 2022)
18-77250709-T-C		not specified	Uncertain significance (May 31, 2023)
18-77250751-G-C		not specified	Uncertain significance (Mar 06, 2023)
18-77250786-G-T		not specified	Uncertain significance (Jul 05, 2023)
18-77250974-C-T			Likely benign (Mar 01, 2023)
18-77250982-C-A		not specified	Uncertain significance (Mar 01, 2024)
18-77250996-C-G		not specified	Uncertain significance (Nov 29, 2021)
18-77251002-G-A		not specified	Uncertain significance (Oct 26, 2021)
18-77251024-T-A		not specified	Uncertain significance (Aug 11, 2022)
18-77251207-A-G		not specified	Uncertain significance (Jan 26, 2022)
18-77268664-A-C		not specified	Uncertain significance (Sep 15, 2021)
18-77268693-T-G			Uncertain significance (May 01, 2022)
18-77268896-T-A		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GALR1	protein_coding	protein_coding	ENST00000299727	3	18354

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000532	0.712	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.209	209	201	1.04	0.00000984	2254
Missense in Polyphen		57	57.269	0.9953		684
Synonymous	0.174	91	93.1	0.977	0.00000497	736
Loss of Function	0.863	6	8.76	0.685	3.76e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000713	0.0000703
Middle Eastern	0.0000548	0.0000544
South Asian	0.0000328	0.0000327
Other	0.000341	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. {ECO:0000269|PubMed:25691535, ECO:0000269|PubMed:7524088}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.181

Intolerance Scores

• loftool: 0.669
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.44

Haploinsufficiency Scores

• pHI: 0.0924
• hipred: Y
• hipred_score: 0.712

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.394

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Galr1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;positive regulation of transcription by RNA polymerase II;positive regulation of cortisol secretion
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: galanin receptor activity;protein binding;G protein-coupled peptide receptor activity;peptide hormone binding;neuropeptide binding