GNB1L

G protein subunit beta 1 like, the group of WD repeat domain containing

Basic information

Region (hg38): 22:19783223-19854939

Links

ENSG00000185838 ∙ NCBI:54584 ∙ OMIM:610778 ∙ HGNC:4397 ∙ Uniprot:Q9BYB4 ∙ 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 GNB1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNB1L 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				6	5	11
missense			33	4	6	43
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			1		2	3
Total	0	0	35	10	13

Variants in GNB1L

This is a list of pathogenic ClinVar variants found in the GNB1L region.

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

Position	Type	Phenotype	Significance	ClinVar
22-19783263-C-T			Benign (May 09, 2019)
22-19788716-C-T		not specified	Uncertain significance (Nov 29, 2023)
22-19788720-G-C		not specified	Uncertain significance (Sep 10, 2024)
22-19788743-C-T		not specified	Uncertain significance (May 03, 2023)
22-19788749-T-C		not specified	Uncertain significance (Dec 14, 2023)
22-19788760-C-T		GNB1L-related disorder	Likely benign (Oct 11, 2023)
22-19788763-G-A		GNB1L-related disorder	Likely benign (Oct 28, 2019)
22-19788773-C-T		not specified	Uncertain significance (Jun 17, 2024)
22-19788777-C-G		not specified	Uncertain significance (Dec 26, 2023)
22-19788781-G-A		GNB1L-related disorder	Likely benign (Jul 10, 2019)
22-19788825-C-A		not specified	Uncertain significance (Feb 17, 2023)
22-19788842-G-A		GNB1L-related disorder	Benign (Oct 28, 2019)
22-19788857-A-G		not specified	Conflicting classifications of pathogenicity (Mar 20, 2024)
22-19788858-C-T		not specified	Uncertain significance (Aug 28, 2024)
22-19788859-G-A		GNB1L-related disorder	Benign (Dec 31, 2019)
22-19788867-G-A		not specified	Uncertain significance (Mar 07, 2024)
22-19788882-C-T		not specified	Uncertain significance (Nov 10, 2024)
22-19788883-G-A		GNB1L-related disorder	Benign (Dec 31, 2019)
22-19788899-C-T		not specified	Uncertain significance (May 26, 2023)
22-19788914-G-A		not specified	Uncertain significance (Mar 20, 2023)
22-19788925-G-A			Likely benign (Jul 18, 2018)
22-19788930-C-T			Uncertain significance (May 25, 2017)
22-19788956-C-T		not specified	Uncertain significance (May 23, 2024)
22-19802005-A-T		not specified	Uncertain significance (Oct 08, 2024)
22-19802018-A-C		GNB1L-related disorder	Benign (Oct 21, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GNB1L	protein_coding	protein_coding	ENST00000329517	6	71716

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000474	0.874	125619	0	105	125724	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0200	235	236	0.996	0.0000172	2089
Missense in Polyphen		49	55.345	0.88535		562
Synonymous	-0.251	112	109	1.03	0.00000848	703
Loss of Function	1.43	9	15.0	0.601	7.30e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000555	0.000555
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00241	0.00241
European (Non-Finnish)	0.000241	0.000237
Middle Eastern	0.000110	0.000109
South Asian	0.0000982	0.0000980
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Pathway: Beta-agonist/Beta-blocker Pathway, Pharmacodynamics (Consensus)

Intolerance Scores

• loftool: 0.704
• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.18

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.167
• ghis: 0.445

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.994

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gnb1l
• Phenotype: homeostasis/metabolism phenotype; immune system phenotype; renal/urinary system 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); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;social behavior;intracellular signal transduction
• Cellular component: cytoplasm;cytoplasmic side of plasma membrane
• Molecular function: molecular_function