GABRQ

gamma-aminobutyric acid type A receptor subunit theta, the group of Gamma-aminobutyric acid type A receptor subunits

Basic information

Region (hg38): X:152637894-152657542

Links

ENSG00000268089 ∙ NCBI:55879 ∙ OMIM:300349 ∙ HGNC:14454 ∙ Uniprot:Q9UN88 ∙ 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 GABRQ gene.

• Inborn genetic diseases (10 variants)
• not provided (6 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GABRQ 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				2		2
missense			10	2	1	13
nonsense						0
start loss						0
frameshift			2			2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	4	1

Variants in GABRQ

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

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

Position	Type	Phenotype	Significance	ClinVar
X-152647062-C-T		not specified	Uncertain significance (Oct 16, 2023)
X-152647124-C-T			Likely benign (Nov 01, 2022)
X-152647124-CGT-C			Uncertain significance (Sep 01, 2019)
X-152649258-A-G			Likely benign (Nov 01, 2022)
X-152649297-A-G		not specified	Uncertain significance (Sep 26, 2023)
X-152649751-C-T			Uncertain significance (Jun 01, 2023)
X-152650513-C-T			Likely benign (May 01, 2023)
X-152650549-C-G		not specified	Uncertain significance (Nov 14, 2023)
X-152651700-G-A		not specified	Uncertain significance (Jan 04, 2024)
X-152651714-C-T			Uncertain significance (-)
X-152651735-G-A		not specified	Uncertain significance (Aug 14, 2023)
X-152652625-G-A		not specified	Likely benign (May 18, 2022)
X-152652703-C-A		GABRQ-related disorder	Likely benign (Mar 31, 2022)
X-152652764-G-A		not specified	Uncertain significance (Aug 26, 2022)
X-152652814-A-T			Benign (Dec 31, 2019)
X-152652830-G-A		not specified	Uncertain significance (Oct 06, 2021)
X-152652835-C-T		not specified	Uncertain significance (Aug 12, 2021)
X-152652850-G-A		not specified	Uncertain significance (Apr 06, 2023)
X-152652851-G-A		not specified	Uncertain significance (Apr 06, 2023)
X-152652888-G-C		not specified	Uncertain significance (Jun 22, 2023)
X-152652999-CAA-C		not specified	Uncertain significance (Jun 27, 2023)
X-152653216-C-T		not specified	Uncertain significance (Feb 01, 2023)
X-152653252-A-G		not specified	Uncertain significance (Oct 25, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
• Pathway: Retrograde endocannabinoid signaling - Homo sapiens (human);GABAergic synapse - Homo sapiens (human);Nicotine addiction - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Morphine addiction - Homo sapiens (human);GABA receptor Signaling;GABA A receptor activation;Neuronal System;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses (Consensus)

Recessive Scores

• pRec: 0.230

Intolerance Scores

• loftool: 0.450
• rvis_EVS: -0.76
• rvis_percentile_EVS: 13.33

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0147

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gabrq
• 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)

Gene ontology

• Biological process: neurotransmitter transport;signal transduction;chemical synaptic transmission;ion transmembrane transport;regulation of membrane potential;nervous system process;chloride transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;cell junction;chloride channel complex;neuron projection;receptor complex;synapse;postsynaptic membrane;GABA-A receptor complex
• Molecular function: transmembrane signaling receptor activity;GABA-A receptor activity;extracellular ligand-gated ion channel activity;chloride channel activity;neurotransmitter transporter activity