RIC8B

RIC8 guanine nucleotide exchange factor B, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 12:106774621-106889316

Links

ENSG00000111785 ∙ NCBI:55188 ∙ OMIM:609147 ∙ HGNC:25555 ∙ Uniprot:Q9NVN3 ∙ 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 RIC8B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIC8B 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 RIC8B

This is a list of pathogenic ClinVar variants found in the RIC8B region.

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

Position	Type	Phenotype	Significance	ClinVar
12-106814713-A-G		not specified	Uncertain significance (Dec 08, 2023)
12-106814775-G-A		not specified	Uncertain significance (Oct 26, 2021)
12-106814877-T-G		not specified	Uncertain significance (Apr 30, 2024)
12-106814910-A-T		not specified	Uncertain significance (Nov 21, 2023)
12-106815032-A-G		not specified	Uncertain significance (Dec 12, 2023)
12-106815200-G-A		not specified	Uncertain significance (Feb 06, 2023)
12-106815243-C-T		not specified	Uncertain significance (Jan 23, 2024)
12-106815273-T-C		not specified	Uncertain significance (Sep 20, 2023)
12-106825745-G-A		not specified	Uncertain significance (Jun 20, 2024)
12-106842681-C-T		not specified	Uncertain significance (Feb 15, 2023)
12-106842776-A-G		not specified	Uncertain significance (Dec 08, 2023)
12-106843919-G-A		not specified	Uncertain significance (Apr 04, 2024)
12-106851531-C-T		not specified	Uncertain significance (Apr 22, 2024)
12-106860320-G-A		not specified	Likely benign (Apr 27, 2024)
12-106885975-A-G		not specified	Uncertain significance (Aug 12, 2021)
12-106885995-A-C		not specified	Uncertain significance (Nov 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RIC8B	protein_coding	protein_coding	ENST00000392839	9	114718

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00108	125730	0	5	125735	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.00	187	282	0.664	0.0000147	3397
Missense in Polyphen		60	122.43	0.49008		1495
Synonymous	1.32	93	111	0.840	0.00000596	1012
Loss of Function	4.37	1	24.2	0.0413	0.00000140	304

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000713	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins by exchanging bound GDP for free GTP. Able to potentiate G(olf)-alpha-dependent cAMP accumulation suggesting that it may be an important component for odorant signal transduction. {ECO:0000250}.

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.140
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.538
• hipred: Y
• hipred_score: 0.729
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.655

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ric8b
• 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); renal/urinary system phenotype; skeleton phenotype; immune system phenotype; respiratory system phenotype; 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; growth/size/body region phenotype; craniofacial phenotype; cellular phenotype; taste/olfaction phenotype

Zebrafish Information Network

• Gene name: ric8b
• Affected structure: melanocyte
• Phenotype tag: abnormal
• Phenotype quality: irregular spatial pattern

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;regulation of G protein-coupled receptor signaling pathway;positive regulation of GTPase activity
• Cellular component: cytoplasm;centrosome;cytosol;plasma membrane;cell cortex
• Molecular function: G-protein alpha-subunit binding;guanyl-nucleotide exchange factor activity;GTPase activator activity