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mutLBSgeneDB |
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| Gene summary for RAB43 |
 Gene summary |
| Basic gene Info. | Gene symbol | RAB43 |
| Gene name | RAB43, member RAS oncogene family | |
| Synonyms | RAB11B|RAB41 | |
| Cytomap | UCSC genome browser: 3q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001204883.1, NM_001204884.1,NM_001204885.1,NM_001204886.1,NM_001204887.1, NM_001204888.1,NM_198490.2, | |
| Description | ras-related protein Rab-41ras-related protein Rab-43 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000172780 | ||
| HPRD : 17947 | ||
| Vega : OTTHUMG00000137364 | ||
| Protein | UniProt: Q86YS6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RAB43 | |
| BioGPS: 339122 | ||
| Pathway | NCI Pathway Interaction Database: RAB43 | |
| KEGG: RAB43 | ||
| REACTOME: RAB43 | ||
| Pathway Commons: RAB43 | ||
| Context | iHOP: RAB43 | |
| ligand binding site mutation search in PubMed: RAB43 | ||
| UCL Cancer Institute: RAB43 | ||
| 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 | GO:0006184 | GTP catabolic process | 24891604 |
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| Ligand binding site mutations for RAB43 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A163 | A163T | 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 RAB43 |
| 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 |
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| 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 | A163 | A163T | -0.90571048 |
| (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 RAB43 from PDB |
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| Differential gene expression and gene-gene network for RAB43 |
| 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 RAB43 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RAB43 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RAB43 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 2hup | A | A163 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2hup | B | A163 |
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| Conservation information for LBS of RAB43 |
| Multiple alignments for Q86YS6 in multiple species |
| LBS | AA sequence | # species | Species | A163 | AIETSAKDSSN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C33 | SVGKTCVVQRF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D134 | IGNKSDLSELR | 1 | Homo sapiens | D134 | IGNKSDLADFR | 1 | Mus musculus | D134 | IGNKSDLADLR | 1 | Rattus norvegicus | G30 | GDASVGKTCVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K132 | LLIGNKSDLAD | 2 | Mus musculus, Rattus norvegicus | K132 | LLIGNKSDLSE | 1 | Homo sapiens | K164 | IETSAKDSSNV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K31 | DASVGKTCVVQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L135 | GNKSDLSELRE | 1 | Homo sapiens | L135 | GNKSDLADFRE | 1 | Mus musculus | L135 | GNKSDLADLRE | 1 | Rattus norvegicus | N131 | QLLIGNKSDLA | 2 | Mus musculus, Rattus norvegicus | N131 | QLLIGNKSDLS | 1 | Homo sapiens | S162 | CAIETSAKDSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S28 | LVGDASVGKTC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T32 | ASVGKTCVVQR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V29 | VGDASVGKTCV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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