mutLBSgeneDB |
Gene summary for RAB18 |
Gene summary |
Basic gene Info. | Gene symbol | RAB18 |
Gene name | RAB18, member RAS oncogene family | |
Synonyms | RAB18LI1|WARBM3 | |
Cytomap | UCSC genome browser: 10p12.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001256410.1, NM_001256411.1,NM_001256412.1,NM_001256415.1,NM_021252.4, NR_046172.1, | |
Description | RAB18 small GTPaseras-related protein Rab-18 | |
Modification date | 20141207 | |
dbXrefs | MIM : 602207 | |
HGNC : HGNC | ||
Ensembl : ENSG00000099246 | ||
HPRD : 03731 | ||
Vega : OTTHUMG00000017861 | ||
Protein | UniProt: Q9NP72 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RAB18 | |
BioGPS: 22931 | ||
Pathway | NCI Pathway Interaction Database: RAB18 | |
KEGG: RAB18 | ||
REACTOME: RAB18 | ||
Pathway Commons: RAB18 | ||
Context | iHOP: RAB18 | |
ligand binding site mutation search in PubMed: RAB18 | ||
UCL Cancer Institute: RAB18 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for RAB18 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | F33 | T32R | BRCA | 1 | K123 | K123R | COAD | 1 | G66 | E68D | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for RAB18 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | F33 | T32R | -1.1479226 | G66 | E68D | -0.5845218 | K123 | K123R | -0.083418872 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for RAB18 from PDB |
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Differential gene expression and gene-gene network for RAB18 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for RAB18 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C3280203 | WARBURG MICRO SYNDROME 3 | 1 | GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for RAB18 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of RAB18 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GNP | PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER | 1x3s | A | F33 G66 K123 |
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Conservation information for LBS of RAB18 |
Multiple alignments for Q9NP72 in multiple species |
LBS | AA sequence | # species | Species | A152 | FIEASAKTCDG | 4 | Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus | A152 | FLECSAKTRVN | 1 | Arabidopsis thaliana | A152 | FLECSARTRQN | 1 | Arabidopsis thaliana | A152 | FHECSARTREN | 1 | Arabidopsis thaliana | A152 | FIEASAKTKEG | 1 | Caenorhabditis elegans | A152 | FIEASAKTRDG | 1 | Danio rerio | A39 | DPELAATIGVD | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | A39 | E-DLAPTIGVD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | A39 | D-DLSPTIGVD | 1 | Arabidopsis thaliana | A39 | DPEQAATIGVD | 1 | Caenorhabditis elegans | D125 | VGNKIDKEN-R | 4 | Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus | D125 | VGNKVDRESER | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D125 | VGNKVDKESER | 1 | Arabidopsis thaliana | D125 | VANKIDMPN-R | 1 | Caenorhabditis elegans | D125 | VGNKIDKDN-R | 1 | Danio rerio | D34 | TDDTFDPELAA | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | D34 | ISSSVE-DLAP | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D34 | TSNTFD-DLSP | 1 | Arabidopsis thaliana | D34 | VDDVFDPEQAA | 1 | Caenorhabditis elegans | F33 | FTDDTFDPELA | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | F33 | FISSSVE-DLA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | F33 | FTSNTFD-DLS | 1 | Arabidopsis thaliana | F33 | FVDDVFDPEQA | 1 | Caenorhabditis elegans | G18 | IIGESGVGKSS | 6 | Homo sapiens, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | G18 | LIGDSGVGKSS | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | G20 | GESGVGKSSLL | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | G20 | GDSGVGKSSLL | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | G20 | GESGVGKSSLM | 1 | Caenorhabditis elegans | G66 | IWDTAGQERFR | 8 | Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | G66 | IWDTAGQEKFR | 1 | Arabidopsis thaliana | K123 | MLVGNKIDKEN | 4 | Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus | K123 | MLVGNKVDRES | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K123 | MLVGNKVDKES | 1 | Arabidopsis thaliana | K123 | MMVANKIDMPN | 1 | Caenorhabditis elegans | K123 | MLVGNKIDKDN | 1 | Danio rerio | K126 | GNKIDKEN-RE | 4 | Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus | K126 | GNKVDKESERA | 1 | Arabidopsis thaliana | K126 | GNKVDRESERG | 1 | Arabidopsis thaliana | K126 | GNKVDRESERK | 1 | Arabidopsis thaliana | K126 | ANKIDMPN-RV | 1 | Caenorhabditis elegans | K126 | GNKIDKDN-RE | 1 | Danio rerio | K153 | IEASAKTCDGV | 4 | Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus | K153 | LECSAKTRVNV | 1 | Arabidopsis thaliana | K153 | LECSARTRQNV | 1 | Arabidopsis thaliana | K153 | HECSARTRENV | 1 | Arabidopsis thaliana | K153 | IEASAKTKEGV | 1 | Caenorhabditis elegans | K153 | IEASAKTRDGV | 1 | Danio rerio | K21 | ESGVGKSSLLL | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | K21 | DSGVGKSSLLL | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K21 | DSGVGKSSLLV | 1 | Arabidopsis thaliana | K21 | ESGVGKSSLML | 1 | Caenorhabditis elegans | N122 | NMLVGNKIDKE | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | N122 | KMLVGNKVDKE | 1 | Arabidopsis thaliana | N122 | RMLVGNKVDRE | 1 | Arabidopsis thaliana | N122 | KMLVGNKVDRE | 1 | Arabidopsis thaliana | N122 | KMMVANKIDMP | 1 | Caenorhabditis elegans | N122 | KMLVGNKIDKD | 1 | Danio rerio | N122 | KMLVGNKIDKE | 1 | Gallus gallus | P35 | DDTFDPELAAT | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | P35 | SSSVE-DLAPT | 2 | Arabidopsis thaliana, Arabidopsis thaliana | P35 | SNTFD-DLSPT | 1 | Arabidopsis thaliana | P35 | DDVFDPEQAAT | 1 | Caenorhabditis elegans | S151 | LFIEASAKTCD | 4 | Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus | S151 | LFLECSAKTRV | 1 | Arabidopsis thaliana | S151 | MFLECSARTRQ | 1 | Arabidopsis thaliana | S151 | LFHECSARTRE | 1 | Arabidopsis thaliana | S151 | LFIEASAKTKE | 1 | Caenorhabditis elegans | S151 | LFIEASAKTRD | 1 | Danio rerio | S17 | LIIGESGVGKS | 6 | Homo sapiens, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | S17 | LLIGDSGVGKS | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | S22 | SGVGKSSLLLR | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | S22 | SGVGKSSLLLS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S22 | SGVGKSSLLVS | 1 | Arabidopsis thaliana | S22 | SGVGKSSLMLR | 1 | Caenorhabditis elegans | S23 | GVGKSSLLLRF | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | S23 | GVGKSSLLLSF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S23 | GVGKSSLLVSF | 1 | Arabidopsis thaliana | S23 | GVGKSSLMLRF | 1 | Caenorhabditis elegans | T40 | PELAATIGVDF | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | T40 | -DLAPTIGVDF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T40 | -DLSPTIGVDF | 1 | Arabidopsis thaliana | T40 | PEQAATIGVDF | 1 | Caenorhabditis elegans | V19 | IGESGVGKSSL | 6 | Homo sapiens, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus | V19 | IGDSGVGKSSL | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana |
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