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mutLBSgeneDB |
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| Gene summary for BAK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BAK1 |
| Gene name | BCL2-antagonist/killer 1 | |
| Synonyms | BAK|BAK-LIKE|BCL2L7|CDN1 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001188.3, | |
| Description | BCL2-like 7 proteinapoptosis regulator BAKbcl-2 homologous antagonist/killerbcl-2-like protein 7bcl2-L-7pro-apoptotic protein BAK | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600516 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000030110 | ||
| HPRD : 02744 | ||
| Vega : OTTHUMG00000014530 | ||
| Protein | UniProt: Q16611 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BAK1 | |
| BioGPS: 578 | ||
| Pathway | NCI Pathway Interaction Database: BAK1 | |
| KEGG: BAK1 | ||
| REACTOME: BAK1 | ||
| Pathway Commons: BAK1 | ||
| Context | iHOP: BAK1 | |
| ligand binding site mutation search in PubMed: BAK1 | ||
| UCL Cancer Institute: BAK1 | ||
| 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:0001836 | release of cytochrome c from mitochondria | 16199525 | GO:0010248 | establishment or maintenance of transmembrane electrochemical gradient | 9843949 | GO:0043496 | regulation of protein homodimerization activity | 9111042 | GO:0043497 | regulation of protein heterodimerization activity | 9111042 | GO:0045862 | positive regulation of proteolysis | 18387192 | GO:0046902 | regulation of mitochondrial membrane permeability | 21041309 | GO:0051881 | regulation of mitochondrial membrane potential | 9843949 | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
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| Ligand binding site mutations for BAK1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G126 | G126A | OV | 1 | Y110 | Y110D | STAD | 1 | Y89 | R88H | UCEC | 1 | D160 | D160N | 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 BAK1 |
| 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 | Y89 | R88H | -1.6088841 | Y110 | Y110D | -1.209783 | G126 | G126A | -1.0435273 | D160 | D160N | -0.40754341 |
| (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 BAK1 from PDB |
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| Differential gene expression and gene-gene network for BAK1 |
| 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 BAK1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0009375 | Colonic Neoplasms | 1 | Biomarker |
| umls:C0027746 | Nerve Degeneration | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BAK1 |
| 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 BAK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2ims | A | D160 | ZN | ZINC(2+) | 2imt | A | D160 | III | Peptide ligand (GLU,ASP,ILE,ILE,ARG,ASN,ILE,ALA,ARG,HIS,LEU,ALA,LEU,VAL,GLY,ASP,LEU,LEU,ASP,ARG,SER,ILE,NH2) | 2m5b | A | Y89 Y110 G126 |
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| Conservation information for LBS of BAK1 |
| Multiple alignments for Q16611 in multiple species |
| LBS | AA sequence | # species | Species |
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