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.

not_specified (33 variants)

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. These statistics are base on transcript: NM_001330145.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			30 clinvar	2 clinvar		32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	3	0

Loading clinvar variants...

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