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mutLBSgeneDB |
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| Gene summary for PBX1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PBX1 |
| Gene name | pre-B-cell leukemia homeobox 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 1q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001204961.1, NM_001204963.1,NM_002585.3, | |
| Description | homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia transcription factor 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 176310 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000185630 | ||
| HPRD : 08889 | ||
| Vega : OTTHUMG00000034307 | ||
| Protein | UniProt: P40424 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PBX1 | |
| BioGPS: 5087 | ||
| Pathway | NCI Pathway Interaction Database: PBX1 | |
| KEGG: PBX1 | ||
| REACTOME: PBX1 | ||
| Pathway Commons: PBX1 | ||
| Context | iHOP: PBX1 | |
| ligand binding site mutation search in PubMed: PBX1 | ||
| UCL Cancer Institute: PBX1 | ||
| 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:0043433 | negative regulation of sequence-specific DNA binding transcription factor activity | 15684392 |
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| Ligand binding site mutations for PBX1 |
| 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 | Y260 | N258Y | BRCA | 1 | R235 | R235L | LUAD | 1 | R235 | A233S | LUAD | 1 | K266 | E267D | LUSC | 1 | R288 | R288Q | SKCM | 1 | R235 | A233V | STAD | 1 | Y260 | Y260C | 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 PBX1 |
| 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 | K266 | E267D | 0.55703302 | R288 | R288Q | -1.063476 | Y260 | Y260C | -0.90629433 | R235 | A233S | -0.81476338 | Y260 | N258Y | -0.49050404 | R235 | A233V | -0.29983366 | R235 | R235L | -0.11626641 |
| (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 PBX1 from PDB |
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| Differential gene expression and gene-gene network for PBX1 |
| 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 PBX1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0006413 | Burkitt Lymphoma | 4 | Biomarker, GeneticVariation |
| umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PBX1 |
| 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 PBX1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1b72 | B | R235 Y260 K266 R288 | NUC | Nucleic Acids | 1puf | B | Y260 K266 R288 |
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| Conservation information for LBS of PBX1 |
| Multiple alignments for P40424 in multiple species |
| LBS | AA sequence | # species | Species | F240 | RKRRNFNKQAT | 3 | Homo sapiens, Mus musculus, Xenopus tropicalis | F240 | RKRRNFSKQAS | 2 | Drosophila melanogaster, Anopheles gambiae | F240 | RKRRNFSKQAT | 1 | Caenorhabditis elegans | I289 | FGNKRIRYKKN | 6 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | K266 | PSEEAKEELAK | 3 | Homo sapiens, Mus musculus, Xenopus tropicalis | K266 | PSEEAKEELAR | 2 | Drosophila melanogaster, Anopheles gambiae | K266 | PSEEAKEDLAR | 1 | Caenorhabditis elegans | K292 | KRIRYKKNIGK | 5 | Homo sapiens, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | K292 | KRIRYKKNMAK | 1 | Caenorhabditis elegans | K293 | RIRYKKNIGKF | 3 | Homo sapiens, Mus musculus, Xenopus tropicalis | K293 | RIRYKKNIGKA | 2 | Drosophila melanogaster, Anopheles gambiae | K293 | RIRYKKNMAKA | 1 | Caenorhabditis elegans | K297 | KKNIGKFQEEA | 3 | Homo sapiens, Mus musculus, Xenopus tropicalis | K297 | KKNIGKAQEEA | 2 | Drosophila melanogaster, Anopheles gambiae | K297 | KKNMAKAQEEA | 1 | Caenorhabditis elegans | N239 | RRKRRNFNKQA | 3 | Homo sapiens, Mus musculus, Xenopus tropicalis | N239 | RRKRRNFSKQA | 3 | Caenorhabditis elegans, Drosophila melanogaster, Anopheles gambiae | N282 | VSQVSNWFGNK | 6 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | N286 | SNWFGNKRIRY | 6 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | Q279 | GITVSQVSNWF | 4 | Homo sapiens, Mus musculus, Drosophila melanogaster, Anopheles gambiae | Q279 | NITVSQVSNWF | 1 | Caenorhabditis elegans | Q279 | AITVSQVSNWF | 1 | Xenopus tropicalis | R235 | FLDARRKRRNF | 6 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | R237 | DARRKRRNFNK | 3 | Homo sapiens, Mus musculus, Xenopus tropicalis | R237 | DARRKRRNFSK | 3 | Caenorhabditis elegans, Drosophila melanogaster, Anopheles gambiae | R238 | ARRKRRNFNKQ | 3 | Homo sapiens, Mus musculus, Xenopus tropicalis | R238 | ARRKRRNFSKQ | 3 | Caenorhabditis elegans, Drosophila melanogaster, Anopheles gambiae | R288 | WFGNKRIRYKK | 6 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | R290 | GNKRIRYKKNI | 5 | Homo sapiens, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | R290 | GNKRIRYKKNM | 1 | Caenorhabditis elegans | W283 | SQVSNWFGNKR | 6 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae | Y260 | HLSNPYPSEEA | 6 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Xenopus tropicalis, Drosophila melanogaster, Anopheles gambiae |
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