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mutLBSgeneDB |
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| Gene summary for TBX1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TBX1 |
| Gene name | T-box 1 | |
| Synonyms | CAFS|CATCH22|CTHM|DGCR|DGS|DORV|TBX1C|TGA|VCF|VCFS | |
| Cytomap | UCSC genome browser: 22q11.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005992.1, NM_080646.1,NM_080647.1, | |
| Description | T-box 1 transcription factor CT-box transcription factor TBX1Testis-specific T-box proteinbrachyury | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 602054 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000184058 | ||
| HPRD : 09069 | ||
| Vega : OTTHUMG00000150421 | ||
| Protein | UniProt: O43435 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TBX1 | |
| BioGPS: 6899 | ||
| Pathway | NCI Pathway Interaction Database: TBX1 | |
| KEGG: TBX1 | ||
| REACTOME: TBX1 | ||
| Pathway Commons: TBX1 | ||
| Context | iHOP: TBX1 | |
| ligand binding site mutation search in PubMed: TBX1 | ||
| UCL Cancer Institute: TBX1 | ||
| 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:0045893 | positive regulation of transcription, DNA-templated | 17273972 |
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| Ligand binding site mutations for TBX1 |
| 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 | M234 | R236I | COAD | 1 | T282 | R280L | LUAD | 1 | T274 | V273F | 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 TBX1 |
| 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 | T274 | V273F | -0.89994383 | M234 | R236I | -0.80615586 | T282 | R280L | -0.67886901 |
| (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 TBX1 from PDB |
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| Differential gene expression and gene-gene network for TBX1 |
| 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 TBX1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0220704 | Shprintzen syndrome | 53 | Biomarker, GeneticVariation |
| umls:C0012236 | DiGeorge Syndrome | 48 | Biomarker, GeneticVariation |
| umls:C0018798 | Heart Defects, Congenital | 14 | Biomarker, GeneticVariation |
| umls:C0039685 | Tetralogy of Fallot | 8 | Biomarker, GeneticVariation |
| umls:C0376634 | Craniofacial Abnormalities | 5 | Biomarker, GeneticVariation |
| umls:C1857586 | Conotruncal cardiac defects | 1 | Biomarker, GeneticVariation |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TBX1 |
| 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 TBX1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4a04 | A | M234 T274 | NUC | Nucleic Acids | 4a04 | B | M234 T274 | NUC | Nucleic Acids | 4a04 | A | T282 | NUC | Nucleic Acids | 4a04 | B | T282 |
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| Conservation information for LBS of TBX1 |
| Multiple alignments for O43435 in multiple species |
| LBS | AA sequence | # species | Species | A275 | FTAVTAYQNHR | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | F291 | IASNPFAKGFR | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | F295 | PFAKGFRDCDP | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | G294 | NPFAKGFRDCD | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | I131 | LGTEMIVTKAG | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | I286 | ITQLKIASNPF | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | K217 | SFDKLKLTNNL | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | K285 | RITQLKIASNP | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | K293 | SNPFAKGFRDC | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | M234 | IILNSMHRYQP | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | N220 | KLKLTNNLLDD | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | N289 | LKIASNPFAKG | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | P290 | KIASNPFAKGF | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | R137 | VTKAGRRMFPT | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | R138 | TKAGRRMFPTF | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | R171 | DDKRYRYAFHS | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | S233 | HIILNSMHRYQ | 3 | Homo sapiens, Danio rerio, Xenopus tropicalis | S233 | QIILNSMHRYQ | 1 | Mus musculus | T274 | RFTAVTAYQNH | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | T282 | QNHRITQLKIA | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | Y276 | TAVTAYQNHRI | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis |
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