RALB

RAS like proto-oncogene B, the group of RAS type GTPase family

Basic information

Region (hg38): 2:120240064-120294710

Links

ENSG00000144118

∙ NCBI:5899 ∙ OMIM:179551 ∙ HGNC:9840 ∙ Uniprot:P11234 ∙ 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 RALB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RALB 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			5 clinvar			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in RALB

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

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

Position	Phenotype	Significance	ClinVar
2-120278671-G-A		Uncertain significance (Aug 20, 2019)	994009
2-120278708-A-G	not specified	Uncertain significance (Sep 16, 2021)	2250334
2-120278713-G-T	not specified	Uncertain significance (Apr 16, 2024)	3312578
2-120286007-T-A	not specified	Uncertain significance (May 15, 2024)	3312580
2-120286070-C-G	not specified	Uncertain significance (Jan 23, 2024)	3151233
2-120289629-G-A	not specified	Uncertain significance (Jan 31, 2024)	3151234
2-120289632-G-A	not specified	Uncertain significance (Nov 30, 2022)	2354154

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RALB	protein_coding	protein_coding	ENST00000272519	4	54650

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0201	0.910	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.86	60	117	0.515	0.00000670	1363
Missense in Polyphen		20	48.939	0.40867		525
Synonymous	0.0518	47	47.5	0.990	0.00000322	376
Loss of Function	1.54	4	8.99	0.445	4.45e-7	113

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000231	0.000231
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis (PubMed:17875936). In late stages of cytokinesis, upon completion of the bridge formation between dividing cells, mediates exocyst recruitment to the midbody to drive abscission (PubMed:18756269). {ECO:0000250|UniProtKB:P36860, ECO:0000269|PubMed:17875936, ECO:0000269|PubMed:18756269}.;
Pathway: Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Chromosomal and microsatellite instability in colorectal cancer;Ras Signaling;EGF-EGFR Signaling Pathway;Signal Transduction;p38MAPK events;Signalling to RAS;Signalling to ERKs;Signaling by NTRK1 (TRKA);Signaling by NTRKs;EGFR1;CXCR4-mediated signaling events;Signaling by Receptor Tyrosine Kinases;Regulation of p38-alpha and p38-beta;FoxO family signaling (Consensus)

Recessive Scores

pRec: 0.133

Intolerance Scores

loftool: 0.392
rvis_EVS: -0.14
rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

pHI: 0.376
hipred: Y
hipred_score: 0.791
ghis: 0.638

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.485

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ralb
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); immune system phenotype; embryo phenotype; neoplasm; 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); normal phenotype; hematopoietic system phenotype; growth/size/body region phenotype; cellular phenotype;

Zebrafish Information Network

Gene name: ralbb
Affected structure: intersegmental vessel
Phenotype tag: abnormal
Phenotype quality: decreased functionality

Gene ontology

Biological process: regulation of exocyst assembly;positive regulation of protein phosphorylation;apoptotic process;cell cycle;signal transduction;Ras protein signal transduction;cellular response to starvation;negative regulation of protein binding;positive regulation of protein binding;cell division;regulation of exocyst localization;cellular response to exogenous dsRNA;positive regulation of protein serine/threonine kinase activity;positive regulation of autophagosome assembly
Cellular component: plasma membrane;midbody;extracellular exosome
Molecular function: GTPase activity;protein binding;GTP binding;GDP binding;ubiquitin protein ligase binding;ATPase binding