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mutLBSgeneDB |
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| Gene summary for RBKS |
 Gene summary |
| Basic gene Info. | Gene symbol | RBKS |
| Gene name | ribokinase | |
| Synonyms | RBSK | |
| Cytomap | UCSC genome browser: 2p23.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001287580.1, NM_022128.2, | |
| Description | - | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611132 | |
| HGNC : HGNC | ||
| HPRD : 15222 | ||
| Protein | UniProt: Q9H477 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RBKS | |
| BioGPS: 64080 | ||
| Pathway | NCI Pathway Interaction Database: RBKS | |
| KEGG: RBKS | ||
| REACTOME: RBKS | ||
| Pathway Commons: RBKS | ||
| Context | iHOP: RBKS | |
| ligand binding site mutation search in PubMed: RBKS | ||
| UCL Cancer Institute: RBKS | ||
| 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 RBKS |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V302 | S301R | STAD | 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 RBKS |
| 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 | V302 | S301R | 0.52027148 |
| (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 RBKS from PDB |
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| Differential gene expression and gene-gene network for RBKS |
| 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 RBKS |
| 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 RBKS |
| 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 RBKS go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 2fv7 | A | V302 | ADP | ADP | 2fv7 | B | V302 |
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| Conservation information for LBS of RBKS |
| Multiple alignments for Q9H477 in multiple species |
| LBS | AA sequence | # species | Species | A238 | IITLGAEGCVV | 1 | Homo sapiens | A238 | VMTLGSRGVLF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A238 | IITLGSQGA-Y | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A238 | VITLGASGCVI | 1 | Mus musculus | A267 | VDTTGAGDSFV | 2 | Homo sapiens, Mus musculus | A267 | VDTTGAGDTFL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A267 | VDTTAAGDTFI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A298 | RSNFIAAVSVQ | 2 | Homo sapiens, Mus musculus | A298 | FSTLASSLTIQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A298 | FAAKCSAITVQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A299 | SNFIAAVSVQA | 2 | Homo sapiens, Mus musculus | A299 | STLASSLTIQR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A299 | AAKCSAITVQR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E257 | HIPT-EKVKAV | 1 | Homo sapiens | E257 | FLPAIQNVSVV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E257 | LVSA-CKVKAV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E257 | HIPT-EAVKAV | 1 | Mus musculus | G237 | VIITLGAEGCV | 1 | Homo sapiens | G237 | VVMTLGSRGVL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G237 | VIITLGSQGA- | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G237 | VVITLGASGCV | 1 | Mus musculus | G240 | TLGAEGCVVLS | 1 | Homo sapiens | G240 | TLGSRGVLFCS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G240 | TLGSQGA-YYK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G240 | TLGASGCVILS | 1 | Mus musculus | G268 | DTTGAGDSFVG | 2 | Homo sapiens, Mus musculus | G268 | DTTGAGDTFLG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G268 | DTTAAGDTFIG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L236 | VVIITLGAEGC | 1 | Homo sapiens | L236 | IVVMTLGSRGV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L236 | AVIITLGSQGA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L236 | VVVITLGASGC | 1 | Mus musculus | N199 | DVFCCNESEAE | 1 | Homo sapiens | N199 | DLLVVNEIEGL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N199 | AYLVPNEHEAA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N199 | SIFCCNESEAE | 1 | Mus musculus | N295 | MLNRSNFIAAV | 1 | Homo sapiens | N295 | AIKFSTLASSL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N295 | SLEFAAKCSAI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N295 | MLKRSNFIAAV | 1 | Mus musculus | T235 | -VVIITLGAEG | 1 | Homo sapiens | T235 | GIVVMTLGSRG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T235 | KAVIITLGSQG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T235 | -VVVITLGASG | 1 | Mus musculus | T256 | PKHIPT-EKVK | 1 | Homo sapiens | T256 | VQFLPAIQNVS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T256 | SALVSA-CKVK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T256 | PKHIPT-EAVK | 1 | Mus musculus | V259 | PT-EKVKAVDT | 1 | Homo sapiens | V259 | PAIQNVSVVDT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V259 | SA-CKVKAVDT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V259 | PT-EAVKAVDT | 1 | Mus musculus | V302 | IAAVSVQAAGT | 1 | Homo sapiens | V302 | ASSLTIQRKGA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V302 | CSAITVQRKGA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V302 | IAAVSVQATGT | 1 | Mus musculus |
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