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mutLBSgeneDB |
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| Gene summary for CBLB |
 Gene summary |
| Basic gene Info. | Gene symbol | CBLB |
| Gene name | Cbl proto-oncogene B, E3 ubiquitin protein ligase | |
| Synonyms | Cbl-b|RNF56 | |
| Cytomap | UCSC genome browser: 3q13.11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_170662.3, | |
| Description | Cas-Br-M (murine) ecotropic retroviral transforming sequence bCas-Br-M (murine) ectropic retroviral transforming sequence bCbl proto-oncogene, E3 ubiquitin protein ligase BE3 ubiquitin-protein ligase CBL-BRING finger protein 56SH3-binding protein CBL | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604491 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000114423 | ||
| HPRD : 05136 | ||
| Vega : OTTHUMG00000150654 | ||
| Protein | UniProt: Q13191 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CBLB | |
| BioGPS: 868 | ||
| Pathway | NCI Pathway Interaction Database: CBLB | |
| KEGG: CBLB | ||
| REACTOME: CBLB | ||
| Pathway Commons: CBLB | ||
| Context | iHOP: CBLB | |
| ligand binding site mutation search in PubMed: CBLB | ||
| UCL Cancer Institute: CBLB | ||
| 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 CBLB |
| 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 | G323 | G323V | COAD | 1 | N225,T223 | C224Y | COAD | 1 | Y329 | Y329C | HNSC | 1 | S70 | N69S | HNSC | 1 | E326 | R325G | LUAD | 1 | C408 | G407C | LUSC | 1 | D221 | D221Y | 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 CBLB |
| 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 | S70 | N69S | -1.0656446 | D221 | D221Y | -0.65522082 | T223 | C224Y | -0.62141822 | N225 | C224Y | -0.62141822 | G323 | G323V | -0.5177134 | E326 | R325G | -0.48774423 | Y329 | Y329C | -0.4560357 | C408 | G407C | -0.060828688 |
| (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 CBLB from PDB |
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| Differential gene expression and gene-gene network for CBLB |
| 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 CBLB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0026769 | Multiple Sclerosis | 5 | Biomarker, GeneticVariation |
| umls:C0014072 | Encephalomyelitis, Autoimmune, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CBLB |
| 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 CBLB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2ldr | A | C408 | ZN | ZINC(2+) | 3zni | A | C408 | ZN | ZINC(2+) | 3zni | E | C408 | ZN | ZINC(2+) | 3zni | I | C408 | ZN | ZINC(2+) | 3zni | M | C408 | CA | CALCIUM(2+) | 3zni | A | D221 T223 N225 | CA | CALCIUM(2+) | 3zni | E | D221 T223 N225 | CA | CALCIUM(2+) | 3zni | I | D221 T223 N225 | CA | CALCIUM(2+) | 3zni | M | D221 T223 N225 | III | Peptide ligand (SER,ASP,GLY,TYR,THR,PRO,GLU,PRO,ALA) | 3zni | A | E326 Y329 | III | Peptide ligand (ASP,GLY,TYR,THR,PRO,GLU,PRO,ALA) | 3zni | I | E326 Y329 | III | Peptide ligand (SER,ASP,GLY,TYR,THR,PRO,GLU,PRO,ALA) | 3zni | M | E326 Y329 | III | Peptide ligand (LEU,GLN,ARG,TYR,SER,SER,ASP,PRO,THR,GLY) | 3pfv | A | S70 G323 E326 Y329 | III | Peptide ligand (LEU,GLN,ARG,TYR,SER,SER,ASP,PRO,THR,GLY,ALA) | 3pfv | B | S70 G323 E326 Y329 | III | Peptide ligand (ASP,GLY,TYR,THR,PRO,GLU,PRO,ALA) | 3zni | E | Y329 |
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| Conservation information for LBS of CBLB |
| Multiple alignments for Q13191 in multiple species |
| LBS | AA sequence | # species | Species | A296 | RLGQWAIGYVT | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C289 | IFRLSCTRLGQ | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C373 | STFQLCKICAE | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C376 | QLCKICAENDK | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C388 | VKIEPCGHLMC | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C393 | CGHLMCTSCLT | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C396 | LMCTSCLTAWQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C396 | LMCTSCLTSWQ | 1 | Xenopus tropicalis | C408 | SDGQGCPFCRC | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C411 | QGCPFCRCEIK | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D221 | LKSTIDLTCND | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D322 | FQALIDGSREG | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | E232 | YISVFEFDIFT | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | E326 | IDGSREGFYLY | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | F328 | GSREGFYLYPD | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | F410 | GQGCPFCRCEI | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | G323 | QALIDGSREGF | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | H390 | IEPCGHLMCTS | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | I310 | NILQTIPHNKP | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | K314 | TIPHNKPLFQA | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | L307 | GDGNILQTIPH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L307 | ADGNILQTIPH | 1 | Xenopus tropicalis | N225 | IDLTCNDYISV | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | N379 | KICAENDKDVK | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | P311 | ILQTIPHNKPL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | P71 | QLKNSPPYILD | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | Q308 | DGNILQTIPHN | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | R286 | GSYIFRLSCTR | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | R291 | RLSCTRLGQWA | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | S288 | YIFRLSCTRLG | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | S70 | LQLKNSPPYIL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T223 | STIDLTCNDYI | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T290 | FRLSCTRLGQW | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T309 | GNILQTIPHNK | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | Y227 | LTCNDYISVFE | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | Y266 | MAFLTYDEVKA | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | Y299 | QWAIGYVTGDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y299 | QWAIGYVTADG | 1 | Xenopus tropicalis | Y329 | SREGFYLYPDG | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus |
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