RAB37

RAB37, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 17:74670578-74747335

Links

ENSG00000172794NCBI:326624OMIM:609956HGNC:30268Uniprot:Q96AX2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAB37 gene.

  • not_specified (34 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB37 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001006638.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
31
clinvar
3
clinvar
34
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 31 4 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAB37protein_codingprotein_codingENST00000392614 976758
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.11e-80.2961257240241257480.0000954
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4681561401.110.000007891488
Missense in Polyphen4545.5030.98894506
Synonymous-0.1776159.31.030.00000377436
Loss of Function0.5091214.10.8536.85e-7158

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.000.00
East Asian0.0001630.000163
Finnish0.000.00
European (Non-Finnish)0.0001060.000105
Middle Eastern0.0001630.000163
South Asian0.0001630.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Neutrophil degranulation;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;RAB geranylgeranylation (Consensus)

Recessive Scores

pRec
0.118

Intolerance Scores

loftool
0.481
rvis_EVS
0.04
rvis_percentile_EVS
57.15

Haploinsufficiency Scores

pHI
0.0819
hipred
N
hipred_score
0.238
ghis
0.534

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.955

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rab37
Phenotype

Gene ontology

Biological process
intracellular protein transport;Rab protein signal transduction;neutrophil degranulation
Cellular component
endoplasmic reticulum-Golgi intermediate compartment;plasma membrane;azurophil granule membrane;specific granule membrane
Molecular function
GTPase activity;protein binding;GTP binding