GeneBe

RAB1B

RAB1B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 11:66268590-66277492

Links

ENSG00000174903 ∙ NCBI:81876 ∙ OMIM:612565 ∙ HGNC:18370 ∙ Uniprot:Q9H0U4 ∙ 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 RAB1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB1B 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
clinvar
 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 RAB1B

This is a list of pathogenic ClinVar variants found in the RAB1B region.

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

Position Type Phenotype Significance ClinVar
11-66272233-A-G not specified Uncertain significance (Mar 12, 2024)3150626
11-66275819-G-A not specified Uncertain significance (Jan 18, 2023)2476571
11-66275847-G-T not specified Uncertain significance (Feb 27, 2024)3150627
11-66275850-A-G not specified Uncertain significance (Apr 07, 2022)2282244
11-66276114-C-T not specified Uncertain significance (Sep 25, 2023)3150628
11-66276155-C-T not specified Uncertain significance (Mar 06, 2023)2494285
11-66276176-G-A not specified Uncertain significance (Aug 17, 2021)2246154
11-66276194-A-G not specified Uncertain significance (Aug 20, 2023)2609036
11-66276206-C-G not specified Uncertain significance (Jan 03, 2024)3150630
11-66276224-G-A not specified Uncertain significance (Sep 29, 2023)3150631
11-66276225-G-A not specified Uncertain significance (Sep 03, 2024)3429100

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAB1Bprotein_codingprotein_codingENST00000311481 68960
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.8840.115125745031257480.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.74721270.5660.000008161307
Missense in Polyphen1347.4040.27424516
Synonymous0.2775456.60.9530.00000417396
Loss of Function2.86111.40.08776.69e-7122

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006150.0000615
Ashkenazi Jewish0.00009920.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.00003310.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1B regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments. Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum. {ECO:0000269|PubMed:20545908, ECO:0000269|PubMed:9437002}.;
Pathway
Legionellosis - Homo sapiens (human);Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Golgi Cisternae Pericentriolar Stack Reorganization;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;Rab regulation of trafficking;Mitotic Prophase;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;COPI-mediated anterograde transport;M Phase;RAB GEFs exchange GTP for GDP on RABs;Cell Cycle;RAB geranylgeranylation;COPII-mediated vesicle transport;ER to Golgi Anterograde Transport;Cell Cycle, Mitotic;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Intolerance Scores

loftool
0.243
rvis_EVS
-0.23
rvis_percentile_EVS
36.86

Haploinsufficiency Scores

pHI
0.345
hipred
Y
hipred_score
0.662
ghis
0.626

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.832

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rab1b
Phenotype
normal phenotype;

Gene ontology

Biological process
intracellular protein transport;endoplasmic reticulum to Golgi vesicle-mediated transport;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;autophagy;virion assembly;Rab protein signal transduction;post-translational protein modification;COPII vesicle coating;establishment of endothelial intestinal barrier;positive regulation of glycoprotein metabolic process;regulation of autophagosome assembly
Cellular component
Golgi membrane;endoplasmic reticulum membrane;Golgi apparatus;cytosol;transport vesicle;endoplasmic reticulum-Golgi intermediate compartment membrane;phagophore assembly site membrane;extracellular exosome
Molecular function
GTPase activity;protein binding;GTP binding