RAB33A

RAB33A, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): X:130171962-130184870

Links

ENSG00000134594NCBI:9363OMIM:300333HGNC:9773Uniprot:Q14088AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAB33A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB33A 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
6
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 6 0 0

Variants in RAB33A

This is a list of pathogenic ClinVar variants found in the RAB33A region.

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

Position Type Phenotype Significance ClinVar
X-130172070-A-C not specified Uncertain significance (Jun 12, 2023)2559522
X-130172099-C-T not specified Uncertain significance (Apr 28, 2022)2286649
X-130172210-A-T not specified Uncertain significance (May 23, 2024)3312133
X-130184328-G-C not specified Uncertain significance (May 24, 2024)3312134
X-130184349-G-A not specified Uncertain significance (Apr 07, 2023)2568678
X-130184433-A-G not specified Uncertain significance (Mar 07, 2024)3150676
X-130184684-G-T not specified Uncertain significance (Sep 26, 2023)3150677
X-130184712-C-A not specified Uncertain significance (Jun 29, 2023)2608220

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAB33Aprotein_codingprotein_codingENST00000257017 213222
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8220.175125692101256930.00000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.93461000.4580.000007891563
Missense in Polyphen948.090.18715702
Synonymous0.5783943.90.8890.00000351465
Loss of Function2.2105.690.004.34e-786

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.00005240.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Vesicle-mediated transport;TBC/RABGAPs;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Rab regulation of trafficking;RAB geranylgeranylation (Consensus)

Recessive Scores

pRec
0.123

Intolerance Scores

loftool
rvis_EVS
0.13
rvis_percentile_EVS
62.74

Haploinsufficiency Scores

pHI
0.115
hipred
Y
hipred_score
0.800
ghis
0.487

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.213

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rab33a
Phenotype

Gene ontology

Biological process
intracellular protein transport;endoplasmic reticulum to Golgi vesicle-mediated transport;antigen processing and presentation;Rab protein signal transduction
Cellular component
Golgi membrane;endoplasmic reticulum membrane;plasma membrane
Molecular function
GTPase activity;protein binding;GTP binding