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mutLBSgeneDB |
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| Gene summary for BCL6 |
 Gene summary |
| Basic gene Info. | Gene symbol | BCL6 |
| Gene name | B-cell CLL/lymphoma 6 | |
| Synonyms | BCL5|BCL6A|LAZ3|ZBTB27|ZNF51 | |
| Cytomap | UCSC genome browser: 3q27 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001130845.1, NM_001134738.1,NM_001706.4,NM_138931.1, | |
| Description | B-cell lymphoma 5 proteinB-cell lymphoma 6 proteinB-cell lymphoma 6 protein transcriptBCL-5BCL-6cys-his2 zinc finger transcription factorlymphoma-associated zinc finger gene on chromosome 3protein LAZ-3zinc finger and BTB domain-containing protein | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 109565 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000113916 | ||
| HPRD : 00180 | ||
| Vega : OTTHUMG00000156441 | ||
| Protein | UniProt: P41182 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BCL6 | |
| BioGPS: 604 | ||
| Pathway | NCI Pathway Interaction Database: BCL6 | |
| KEGG: BCL6 | ||
| REACTOME: BCL6 | ||
| Pathway Commons: BCL6 | ||
| Context | iHOP: BCL6 | |
| ligand binding site mutation search in PubMed: BCL6 | ||
| UCL Cancer Institute: BCL6 | ||
| 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:0000122 | negative regulation of transcription from RNA polymerase II promoter | 11929873 | GO:0006974 | cellular response to DNA damage stimulus | 15577913 | GO:0030308 | negative regulation of cell growth | 10490843 | GO:0043065 | positive regulation of apoptotic process | 10490843 |
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| Ligand binding site mutations for BCL6 |
| 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 | H620 | R618C | SKCM | 3 | N21 | N21K | BRCA | 1 | H564 | A562T | BRCA | 1 | C604 | C604Y | GBM | 1 | L69 | L69P | LUAD | 1 | N73 | N73S | LUSC | 1 | R13 | R13G | LUSC | 1 | R13 | R13H | STAD | 1 | H14 | A15T | STAD | 1 | C551 | R550H | STAD | 1 | K123 | R122Q | UCEC | 1 | C551 | R550H | 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. |
| Clinical information for BCL6 from My Cancer Genome. |
| B-cell CLL/lymphoma 6 (BCL6) is a gene that encodes a protein that is a zinc finger transcription factor. The protein functions in transcriptional repression and the regulation of interleukin dependent responses in B-cells. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as esophageal cancer, intestinal cancer, and stomach cancer. Modified: July 1, 2015 |
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| Protein structure related information for BCL6 |
| 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 | K123 | R122Q | -1.5605862 | L69 | L69P | -1.3846294 | R13 | R13G | -1.341509 | R13 | R13H | -1.2499864 | C551 | R550H | -1.1649177 | N21 | N21K | -1.1219147 | N73 | N73S | -0.90115875 | H564 | A562T | -0.88442007 | H14 | A15T | -0.84325298 | H620 | R618C | -0.70054383 | C604 | C604Y | -0.4673145 |
| (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 BCL6 from PDB |
| PDB ID | PDB title | PDB structure | 1R29 | Crystal Structure of the B-Cell Lymphoma 6 (BCL6) BTB Domain to 1.3 Angstrom |  |
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| Differential gene expression and gene-gene network for BCL6 |
| 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 BCL6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0079772 | Lymphoma, T-Cell | 3 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BCL6 |
| 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 BCL6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLY,SER,LEU,VAL,ALA,THR,VAL,LYS,GLU,ALA,GLY,ARG,SER,ILE,HIS,GLU,ILE,PRO,ARG) | 1r2b | A | K123 | III | Peptide ligand (LEU,VAL,ALA,THR,VAL,LYS,GLU,ALA,GLY,ARG,SER,ILE,HIS,GLU,ILE,PRO,ARG) | 1r2b | B | K123 | Z88 | N-[(4-BROMOPHENYL)SULFONYL]ACETAMIDE | 3lbz | B | K123 | Z89 | N-[(1S)-2-AMINO-1-(2,4-DICHLOROBENZYL)ETHYL]-5-[2-(METHYLAMINO)PYRIMIDIN-4-YL]THIOPHENE-2-CARBOXAMIDE | 3lbz | B | L69 N73 | Z89 | N-[(1S)-2-AMINO-1-(2,4-DICHLOROBENZYL)ETHYL]-5-[2-(METHYLAMINO)PYRIMIDIN-4-YL]THIOPHENE-2-CARBOXAMIDE | 3lbz | A | N21 | Z89 | N-[(1S)-2-AMINO-1-(2,4-DICHLOROBENZYL)ETHYL]-5-[2-(METHYLAMINO)PYRIMIDIN-4-YL]THIOPHENE-2-CARBOXAMIDE | 3lbz | B | N21 | RBT | RIFABUTIN | 4cp3 | A | N21 | III | Peptide ligand (LEU,VAL,ALA,THR,VAL,LYS,GLU,ALA,GLY,ARG,SER,ILE,HIS,GLU,ILE,PRO,ARG) | 1r2b | A | R13 H14 N21 | III | Peptide ligand (GLY,SER,LEU,VAL,ALA,THR,VAL,LYS,GLU,ALA,GLY,ARG,SER,ILE,HIS,GLU,ILE,PRO,ARG) | 1r2b | B | R13 H14 N21 | III | Peptide ligand (ARG,SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | A | R13 N21 | III | Peptide ligand (ARG,SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | B | R13 N21 | III | Peptide ligand (SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | C | R13 N21 | III | Peptide ligand (ARG,SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | D | R13 N21 | III | Peptide ligand (SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | E | R13 N21 | III | Peptide ligand (ARG,SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | F | R13 N21 | III | Peptide ligand (ARG,SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | G | R13 N21 | III | Peptide ligand (ARG,SER,GLU,ILE,ILE,SER,THR,ALA,PRO,SER,SER,TRP,VAL,VAL,PRO,GLY,PRO) | 3bim | H | R13 N21 |
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| Conservation information for LBS of BCL6 |
| Multiple alignments for P41182 in multiple species |
| LBS | AA sequence | # species | Species | A2 | 3 | Homo sapiens, Gallus gallus, Mus musculus | A52 | KTVLMACSGLF | 3 | Homo sapiens, Gallus gallus, Mus musculus | C520 | NGAFFCNECDC | 2 | Homo sapiens, Gallus gallus | C520 | NGTFFCNECDC | 1 | Mus musculus | C523 | FFCNECDCRFS | 3 | Homo sapiens, Gallus gallus, Mus musculus | C53 | TVLMACSGLFY | 3 | Homo sapiens, Gallus gallus, Mus musculus | C548 | DKPYKCDRCQA | 3 | Homo sapiens, Gallus gallus, Mus musculus | C551 | YKCDRCQASFR | 3 | Homo sapiens, Gallus gallus, Mus musculus | C604 | EKPYKCETCGA | 3 | Homo sapiens, Gallus gallus, Mus musculus | C607 | YKCETCGARFV | 3 | Homo sapiens, Gallus gallus, Mus musculus | C632 | EKPYPCEICGT | 3 | Homo sapiens, Gallus gallus, Mus musculus | C635 | YPCEICGTRFR | 3 | Homo sapiens, Gallus gallus, Mus musculus | D17 | TRHASDVLLNL | 3 | Homo sapiens, Gallus gallus, Mus musculus | D75 | SVINLDPEINP | 1 | Homo sapiens | D75 | NVINLDPEINP | 1 | Gallus gallus | D75 | SVINLDPEISP | 1 | Mus musculus | E115 | MYLQMEHVVDT | 2 | Homo sapiens, Mus musculus | E115 | LYLQMEHVVDT | 1 | Gallus gallus | F11 | DSCIQFTRHAS | 3 | Homo sapiens, Gallus gallus, Mus musculus | F124 | DTCRKFIKASE | 2 | Homo sapiens, Mus musculus | F124 | DTCRRFVKSSE | 1 | Gallus gallus | G55 | LMACSGLFYSI | 3 | Homo sapiens, Gallus gallus, Mus musculus | H116 | YLQMEHVVDTC | 3 | Homo sapiens, Gallus gallus, Mus musculus | H14 | IQFTRHASDVL | 3 | Homo sapiens, Gallus gallus, Mus musculus | H536 | ASLKRHTLQTH | 2 | Homo sapiens, Mus musculus | H536 | ASLKRHSLQVH | 1 | Gallus gallus | H564 | GNLASHKTVHT | 3 | Homo sapiens, Gallus gallus, Mus musculus | H568 | SHKTVHTGEKP | 3 | Homo sapiens, Gallus gallus, Mus musculus | H620 | AHLRAHVLIHT | 3 | Homo sapiens, Gallus gallus, Mus musculus | H648 | QTLKSHLRIHT | 3 | Homo sapiens, Gallus gallus, Mus musculus | I60 | GLFYSIFTDQL | 3 | Homo sapiens, Gallus gallus, Mus musculus | I9 | PADSCIQFTRH | 3 | Homo sapiens, Gallus gallus, Mus musculus | K123 | VDTCRKFIKAS | 2 | Homo sapiens, Mus musculus | K123 | VDTCRRFVKSS | 1 | Gallus gallus | L20 | ASDVLLNLNRL | 3 | Homo sapiens, Gallus gallus, Mus musculus | L25 | LNLNRLRSRDI | 3 | Homo sapiens, Gallus gallus, Mus musculus | L69 | QLKCNLSVINL | 2 | Homo sapiens, Mus musculus | L69 | QLKCNLNVINL | 1 | Gallus gallus | M114 | AMYLQMEHVVD | 2 | Homo sapiens, Mus musculus | M114 | ALYLQMEHVVD | 1 | Gallus gallus | M51 | HKTVLMACSGL | 3 | Homo sapiens, Gallus gallus, Mus musculus | N21 | SDVLLNLNRLR | 3 | Homo sapiens, Gallus gallus, Mus musculus | N23 | VLLNLNRLRSR | 3 | Homo sapiens, Gallus gallus, Mus musculus | N73 | NLSVINLDPEI | 2 | Homo sapiens, Mus musculus | N73 | NLNVINLDPEI | 1 | Gallus gallus | P76 | VINLDPEINPE | 2 | Homo sapiens, Gallus gallus | P76 | VINLDPEISPE | 1 | Mus musculus | Q10 | ADSCIQFTRHA | 3 | Homo sapiens, Gallus gallus, Mus musculus | R13 | CIQFTRHASDV | 3 | Homo sapiens, Gallus gallus, Mus musculus | R24 | LLNLNRLRSRD | 3 | Homo sapiens, Gallus gallus, Mus musculus | R28 | NRLRSRDILTD | 3 | Homo sapiens, Gallus gallus, Mus musculus | S27 | LNRLRSRDILT | 3 | Homo sapiens, Gallus gallus, Mus musculus | S54 | VLMACSGLFYS | 3 | Homo sapiens, Gallus gallus, Mus musculus | T12 | SCIQFTRHASD | 3 | Homo sapiens, Gallus gallus, Mus musculus | T120 | EHVVDTCRKFI | 2 | Homo sapiens, Mus musculus | T120 | EHVVDTCRRFV | 1 | Gallus gallus | V117 | LQMEHVVDTCR | 3 | Homo sapiens, Gallus gallus, Mus musculus | V18 | RHASDVLLNLN | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y111 | MATAMYLQMEH | 1 | Homo sapiens | Y111 | MATALYLQMEH | 1 | Gallus gallus | Y111 | MTTAMYLQMEH | 1 | Mus musculus | Y58 | CSGLFYSIFTD | 3 | Homo sapiens, Gallus gallus, Mus musculus |
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