RGS13

regulator of G protein signaling 13, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:192636138-192660311

Links

ENSG00000127074 ∙ NCBI:6003 ∙ OMIM:607190 ∙ HGNC:9995 ∙ Uniprot:O14921 ∙ 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 RGS13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS13 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in RGS13

This is a list of pathogenic ClinVar variants found in the RGS13 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-192644342-G-A		not specified	Uncertain significance (Feb 22, 2023)
1-192644344-C-T		not specified	Uncertain significance (Dec 15, 2022)
1-192644381-C-A		not specified	Uncertain significance (Nov 13, 2023)
1-192644392-C-T		not specified	Uncertain significance (May 01, 2024)
1-192658234-T-C		not specified	Uncertain significance (Oct 03, 2024)
1-192658265-G-T		not specified	Uncertain significance (Dec 16, 2023)
1-192659345-T-C		not specified	Uncertain significance (Jan 04, 2024)
1-192659354-C-T		not specified	Uncertain significance (Feb 06, 2023)
1-192659432-T-C		not specified	Uncertain significance (Apr 08, 2022)
1-192659479-T-C		not specified	Uncertain significance (May 30, 2023)
1-192659494-A-G		not specified	Uncertain significance (Mar 24, 2023)
1-192659515-A-G		not specified	Uncertain significance (Dec 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS13	protein_coding	protein_coding	ENST00000391995	4	24116

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000448	0.676	125668	0	21	125689	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0719	84	82.2	1.02	0.00000388	1061
Missense in Polyphen		31	29.37	1.0555		384
Synonymous	-0.741	31	26.2	1.18	0.00000129	252
Loss of Function	0.778	6	8.44	0.711	3.56e-7	113

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000126	0.000126
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.000167	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to both G(i)-alpha and G(q)- alpha (By similarity). {ECO:0000250}.
• Pathway: Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0875

Intolerance Scores

• loftool: 0.828
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.76

Haploinsufficiency Scores

• pHI: 0.755
• hipred: N
• hipred_score: 0.170
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.269

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs13
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;negative regulation of G protein-coupled receptor signaling pathway
• Cellular component: nucleus;cytosol;plasma membrane