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mutLBSgeneDB |
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| Gene summary for RBPJ |
 Gene summary |
| Basic gene Info. | Gene symbol | RBPJ |
| Gene name | recombination signal binding protein for immunoglobulin kappa J region | |
| Synonyms | AOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl | |
| Cytomap | UCSC genome browser: 4p15.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005349.3, NM_015874.4,NM_203283.2,NM_203284.2, | |
| Description | CBF-1H-2K binding factor-2RBP-J kappaRBP-JKimmunoglobulin kappa J region recombination signal binding protein 1recombining binding protein suppressor of hairlessrenal carcinoma antigen NY-REN-30suppressor of hairless homolog | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 147183 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000168214 | ||
| HPRD : 00920 | ||
| Vega : OTTHUMG00000097793 | ||
| Protein | UniProt: Q06330 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RBPJ | |
| BioGPS: 3516 | ||
| Pathway | NCI Pathway Interaction Database: RBPJ | |
| KEGG: RBPJ | ||
| REACTOME: RBPJ | ||
| Pathway Commons: RBPJ | ||
| Context | iHOP: RBPJ | |
| ligand binding site mutation search in PubMed: RBPJ | ||
| UCL Cancer Institute: RBPJ | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007221 | positive regulation of transcription of Notch receptor target | 21102556 | GO:0045892 | negative regulation of transcription, DNA-templated | 10713164 |
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| Ligand binding site mutations for RBPJ |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R65 | R65K | HNSC | 1 | T293 | E294G | KIRC | 1 | M257 | M257V | LUAD | 1 | T293 | T293I | LUAD | 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 RBPJ |
| 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 | T293 | E294G | -1.2458651 | R65 | R65K | -1.1054213 | M257 | M257V | -0.59882321 | T293 | T293I | -0.3943001 |
| (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 RBPJ from PDB |
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| Differential gene expression and gene-gene network for RBPJ |
| 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 RBPJ |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003873 | Arthritis, Rheumatoid | 3 | Biomarker, GeneticVariation |
| umls:C3553748 | ADAMS-OLIVER SYNDROME 3 | 1 | GeneticVariation |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RBPJ |
| 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 RBPJ 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 RBPJ |
| Multiple alignments for Q06330 in multiple species |
| LBS | AA sequence | # species | Species | A258 | SVTGMALPRLI | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | D239 | EFTVRDGYIHY | 3 | Homo sapiens, Mus musculus, Bos taurus | D239 | EFQVRDGYIHY | 1 | Drosophila melanogaster | D292 | AFYLKDTERMY | 3 | Homo sapiens, Mus musculus, Bos taurus | D292 | AFYMKDTDRMY | 1 | Drosophila melanogaster | E233 | DESEGEEFTVR | 3 | Homo sapiens, Mus musculus, Bos taurus | E233 | NESESEEFQVR | 1 | Drosophila melanogaster | E234 | ESEGEEFTVRD | 3 | Homo sapiens, Mus musculus, Bos taurus | E234 | ESESEEFQVRD | 1 | Drosophila melanogaster | E63 | KSYGNEKRFFC | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | F210 | VEGGNFHASSQ | 3 | Homo sapiens, Mus musculus, Bos taurus | F210 | VENGHFHASST | 1 | Drosophila melanogaster | F235 | SEGEEFTVRDG | 3 | Homo sapiens, Mus musculus, Bos taurus | F235 | SESEEFQVRDG | 1 | Drosophila melanogaster | F66 | GNEKRFFCPPP | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | G208 | LHVEGGNFHAS | 3 | Homo sapiens, Mus musculus, Bos taurus | G208 | LHVENGHFHAS | 1 | Drosophila melanogaster | H223 | GAFYIHLLDDD | 2 | Mus musculus, Bos taurus | H223 | GAFFIHLLDDD | 1 | Homo sapiens | H223 | GAFTIHLLDDN | 1 | Drosophila melanogaster | I306 | SQERIIQFQAT | 3 | Homo sapiens, Mus musculus, Bos taurus | I306 | SQEKIIQFQAT | 1 | Drosophila melanogaster | K137 | DSDKRKHFMLS | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | K166 | IKVISKPSKKK | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | K170 | SKPSKKKQSLK | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | K171 | KPSKKKQSLKN | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | K175 | KKQSLKNADLC | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | K269 | IRKVDKQTALL | 3 | Homo sapiens, Mus musculus, Bos taurus | K269 | IRKVDKQMALL | 1 | Drosophila melanogaster | K285 | VSQLHKCAFYL | 3 | Homo sapiens, Mus musculus, Bos taurus | K285 | VSQLHKCAFYM | 1 | Drosophila melanogaster | K291 | CAFYLKDTERM | 3 | Homo sapiens, Mus musculus, Bos taurus | K291 | CAFYMKDTDRM | 1 | Drosophila melanogaster | K58 | AKVAQKSYGNE | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | K64 | SYGNEKRFFCP | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | L259 | VTGMALPRLII | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | M257 | CSVTGMALPRL | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | M296 | KDTERMYLCLS | 3 | Homo sapiens, Mus musculus, Bos taurus | M296 | KDTDRMYLCLS | 1 | Drosophila melanogaster | N209 | HVEGGNFHASS | 3 | Homo sapiens, Mus musculus, Bos taurus | N209 | HVENGHFHASS | 1 | Drosophila melanogaster | P260 | TGMALPRLIIR | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | Q196 | NRLRSQTVSTR | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | Q307 | QERIIQFQATP | 3 | Homo sapiens, Mus musculus, Bos taurus | Q307 | QEKIIQFQATP | 1 | Drosophila melanogaster | R192 | VALFNRLRSQT | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | R194 | LFNRLRSQTVS | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | R238 | EEFTVRDGYIH | 3 | Homo sapiens, Mus musculus, Bos taurus | R238 | EEFQVRDGYIH | 1 | Drosophila melanogaster | R65 | YGNEKRFFCPP | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | S165 | RIKVISKPSKK | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | S168 | VISKPSKKKQS | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | S173 | SKKKQSLKNAD | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | S195 | FNRLRSQTVST | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | T197 | RLRSQTVSTRY | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | T236 | EGEEFTVRDGY | 3 | Homo sapiens, Mus musculus, Bos taurus | T236 | ESEEFQVRDGY | 1 | Drosophila melanogaster | T293 | FYLKDTERMYL | 3 | Homo sapiens, Mus musculus, Bos taurus | T293 | FYMKDTDRMYL | 1 | Drosophila melanogaster | V237 | GEEFTVRDGYI | 3 | Homo sapiens, Mus musculus, Bos taurus | V237 | SEEFQVRDGYI | 1 | Drosophila melanogaster | Y60 | VAQKSYGNEKR | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus |
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