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mutLBSgeneDB |
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| Gene summary for RAB4A |
 Gene summary |
| Basic gene Info. | Gene symbol | RAB4A |
| Gene name | RAB4A, member RAS oncogene family | |
| Synonyms | HRES-1|HRES-1/RAB4|HRES1|RAB4 | |
| Cytomap | UCSC genome browser: 1q42-q43 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001271998.1, NM_004578.3,NR_073545.1, | |
| Description | HTLV-1 related endogenous sequenceras-related protein Rab-4A | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 179511 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000168118 | ||
| HPRD : 01541 | ||
| Vega : OTTHUMG00000037627 | ||
| Protein | UniProt: P20338 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RAB4A | |
| BioGPS: 5867 | ||
| Pathway | NCI Pathway Interaction Database: RAB4A | |
| KEGG: RAB4A | ||
| REACTOME: RAB4A | ||
| Pathway Commons: RAB4A | ||
| Context | iHOP: RAB4A | |
| ligand binding site mutation search in PubMed: RAB4A | ||
| UCL Cancer Institute: RAB4A | ||
| 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 | 17562788 |
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| Ligand binding site mutations for RAB4A |
| 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 | A70 | L70V | KIRC | 1 | G23 | K23N | 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 RAB4A |
| 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 |
| (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 RAB4A from PDB |
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| Differential gene expression and gene-gene network for RAB4A |
| 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 RAB4A |
| 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 RAB4A |
| 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 RAB4A 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 RAB4A |
| Multiple alignments for P20338 in multiple species |
| LBS | AA sequence | # species | Species | A157 | L-ETSALTGEN | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | A157 | AHETSSYTGSN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A22 | LVIGNAGTGKS | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | A22 | VLAGPSGTGKS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A70 | QIWDTAGQERF | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | A70 | QIWDTAGQEKF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C28 | GTGKSCLLHQF | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | C28 | GTGKSCLLQRF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D129 | CGNKKDLDADR | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | D129 | AGSKSDLQNQR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D129 | CGNKKDLDTDR | 1 | Bos taurus | F38 | FIEKKFKDDSN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F38 | FVKNQWDDQVS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F38 | FIEKRFKDDSN | 1 | Danio rerio | G23 | VIGNAGTGKSC | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | G23 | LAGPSGTGKSC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G25 | GNAGTGKSCLL | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | G25 | GPSGTGKSCLL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G71 | IWDTAGQERFR | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | G71 | IWDTAGQEKFR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H44 | KDDSNHTIGVE | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | H44 | DDQVSHTVGID | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K127 | ILCGNKKDLDA | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K127 | VLAGSKSDLQN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K127 | ILCGNKKDLDT | 1 | Bos taurus | K26 | NAGTGKSCLLH | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | K26 | PSGTGKSCLLQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L130 | GNKKDLDADRE | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | L130 | GSKSDLQNQRQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L130 | GNKKDLDTDRE | 1 | Bos taurus | L158 | -ETSALTGENV | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | L158 | HETSSYTGSNV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N126 | IILCGNKKDLD | 4 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus | N126 | VVLAGSKSDLQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N126 | LILCGNKKDLD | 1 | Mus musculus | S156 | FL-ETSALTGE | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | S156 | SAHETSSYTGS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S27 | AGTGKSCLLHQ | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | S27 | SGTGKSCLLQR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S42 | KFKDDSNHTIG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S42 | QWDDQVSHTVG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S42 | RFKDDSNHTIG | 1 | Danio rerio | T24 | IGNAGTGKSCL | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | T24 | AGPSGTGKSCL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T45 | DDSNHTIGVEF | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | T45 | DQVSHTVGIDF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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