mutLBSgeneDB |
Gene summary for TBX3 |
Gene summary |
Basic gene Info. | Gene symbol | TBX3 |
Gene name | T-box 3 | |
Synonyms | TBX3-ISO|UMS|XHL | |
Cytomap | UCSC genome browser: 12q24.21 | |
Type of gene | protein-coding | |
RefGenes | NM_005996.3, NM_016569.3, | |
Description | T-box protein 3T-box transcription factor TBX3bladder cancer related protein XHL | |
Modification date | 20141207 | |
dbXrefs | MIM : 601621 | |
HGNC : HGNC | ||
Ensembl : ENSG00000135111 | ||
HPRD : 03373 | ||
Vega : OTTHUMG00000169586 | ||
Protein | UniProt: O15119 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TBX3 | |
BioGPS: 6926 | ||
Pathway | NCI Pathway Interaction Database: TBX3 | |
KEGG: TBX3 | ||
REACTOME: TBX3 | ||
Pathway Commons: TBX3 | ||
Context | iHOP: TBX3 | |
ligand binding site mutation search in PubMed: TBX3 | ||
UCL Cancer Institute: TBX3 | ||
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 | 11689487 | GO:0007569 | cell aging | 11689487 | GO:0008284 | positive regulation of cell proliferation | 11689487 | GO:0009887 | organ morphogenesis | 9207801 | GO:0035136 | forelimb morphogenesis | 9207801 | GO:0043066 | negative regulation of apoptotic process | 12032820 | GO:0045662 | negative regulation of myoblast differentiation | 12032820 | GO:0045787 | positive regulation of cell cycle | 12032820 | GO:0045892 | negative regulation of transcription, DNA-templated | 10468588 | GO:0090398 | cellular senescence | 22002537 |
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Ligand binding site mutations for TBX3 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | I294 | D295H | BLCA | 1 | F303 | R304Q | COAD | 1 | T282 | A280S | LUSC | 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 TBX3 |
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 |
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 | I294 | D295H | -1.2861856 | F303 | R304Q | -1.0866027 | T282 | A280S | -0.92088879 |
(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 TBX3 from PDB |
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Differential gene expression and gene-gene network for TBX3 |
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 TBX3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1866994 | Ulnar-mammary syndrome | 30 | Biomarker, GeneticVariation |
umls:C1458155 | Breast Neoplasms | 5 | AlteredExpression, Biomarker |
umls:C0206762 | Limb Deformities, Congenital | 1 | Biomarker |
umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
umls:C0040128 | Thyroid Diseases | 1 | Biomarker |
umls:C0040427 | Tooth Abnormalities | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for TBX3 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of TBX3 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 TBX3 |
Multiple alignments for O15119 in multiple species |
LBS | AA sequence | # species | Species | A283 | FIAVTAYQNDK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F299 | IDNNPFAKGFR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F303 | PFAKGFRDTGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G302 | NPFAKGFRDTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I294 | ITQLKIDNNPF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K164 | DDCRYKFHNSR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K208 | TFHKLKLTNNI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K293 | KITQLKIDNNP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K301 | NNPFAKGFRDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M245 | TILNSMHKYQP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N211 | KLKLTNNISDK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N297 | LKIDNNPFAKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P298 | KIDNNPFAKGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q285 | AVTAYQNDKIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R130 | ITKSGRRMFPP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R131 | TKSGRRMFPPF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S244 | QTILNSMHKYQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T282 | EFIAVTAYQND | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T290 | QNDKITQLKID | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y284 | IAVTAYQNDKI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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