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mutLBSgeneDB |
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| Gene summary for RAB30 |
 Gene summary |
| Basic gene Info. | Gene symbol | RAB30 |
| Gene name | RAB30, member RAS oncogene family | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 11q12-q14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001286059.1, NM_001286060.1,NM_001286061.1,NM_014488.4, | |
| Description | ras-related protein Rab-30 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605693 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137502 | ||
| HPRD : 05750 | ||
| Vega : OTTHUMG00000166973 | ||
| Protein | UniProt: Q15771 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RAB30 | |
| BioGPS: 27314 | ||
| Pathway | NCI Pathway Interaction Database: RAB30 | |
| KEGG: RAB30 | ||
| REACTOME: RAB30 | ||
| Pathway Commons: RAB30 | ||
| Context | iHOP: RAB30 | |
| ligand binding site mutation search in PubMed: RAB30 | ||
| UCL Cancer Institute: RAB30 | ||
| 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 RAB30 |
| 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 | F34,Q38 | P36L | LUAD | 1 | T23 | T23M | LUSC | 1 | T23 | T23S | SKCM | 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 RAB30 |
| 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 | T23 | T23S | -0.52491189 | T23 | T23M | -0.13209608 | Q38 | P36L | -0.11249436 | F34 | P36L | -0.11249436 |
| (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 RAB30 from PDB |
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| Differential gene expression and gene-gene network for RAB30 |
| 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 RAB30 |
| 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 RAB30 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| 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 RAB30 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of RAB30 |
| Multiple alignments for Q15771 in multiple species |
| LBS | AA sequence | # species | Species | A153 | YLETSAKESDN | 3 | Homo sapiens, Bos taurus, Mus musculus | A18 | VLIGNAGVGKT | 3 | Homo sapiens, Bos taurus, Mus musculus | A40 | PPGQGATIGVD | 3 | Homo sapiens, Bos taurus, Mus musculus | C24 | GVGKTCLVRRF | 3 | Homo sapiens, Bos taurus, Mus musculus | D125 | VGNKIDLAERR | 3 | Homo sapiens, Bos taurus, Mus musculus | F34 | FTQGLFPPGQG | 3 | Homo sapiens, Bos taurus, Mus musculus | G19 | LIGNAGVGKTC | 3 | Homo sapiens, Bos taurus, Mus musculus | G21 | GNAGVGKTCLV | 3 | Homo sapiens, Bos taurus, Mus musculus | G67 | IWDTAGQERFR | 3 | Homo sapiens, Bos taurus, Mus musculus | K123 | VLVGNKIDLAE | 3 | Homo sapiens, Bos taurus, Mus musculus | K154 | LETSAKESDNV | 3 | Homo sapiens, Bos taurus, Mus musculus | K22 | NAGVGKTCLVR | 3 | Homo sapiens, Bos taurus, Mus musculus | L126 | GNKIDLAERRE | 3 | Homo sapiens, Bos taurus, Mus musculus | N122 | TVLVGNKIDLA | 3 | Homo sapiens, Bos taurus, Mus musculus | Q38 | LFPPGQGATIG | 3 | Homo sapiens, Bos taurus, Mus musculus | S152 | YYLETSAKESD | 3 | Homo sapiens, Bos taurus, Mus musculus | T23 | AGVGKTCLVRR | 3 | Homo sapiens, Bos taurus, Mus musculus | T41 | PGQGATIGVDF | 3 | Homo sapiens, Bos taurus, Mus musculus | V20 | IGNAGVGKTCL | 3 | Homo sapiens, Bos taurus, Mus musculus |
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