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| TissGeneSummary for TBX1 |
 Gene summary |
| Basic gene information | 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: 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 TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | LungTestis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LUAD,LUSCTGCT | |
| Reference showing the relevant tissue of TBX1 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| 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 | GO:0045893 | positive regulation of transcription, DNA-templated | 17273972 |
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| TissGeneExp for TBX1 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LUSC | 1.758955469 | 0.277769194 | 1.481186275 | 2.34E-07 | 6.30E-07 |
| COAD | -3.12240886 | -1.546435783 | -1.575973077 | 9.43E-07 | 5.35E-06 |
| THCA | -1.58228624 | 0.428873083 | -2.011159322 | 3.57E-12 | 2.87E-11 |
| KICH | -1.418481629 | -2.852673629 | 1.434192 | 0.00414 | 0.007955153 |
| KIRP | -4.147542754 | -3.072836504 | -1.07470625 | 0.00156 | 0.00408112 |
| PRAD | 2.092031525 | 0.714948832 | 1.377082692 | 3.20E-05 | 0.000153231 |
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| TissGene-miRNA for TBX1 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for TBX1 |
| TissGeneSNV for TBX1 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.R240H | STAD | 1 |
| p.P458S | HNSC | 1 |
| p.H194Q | BLCA | 1 |
| p.S351Y | STAD | 1 |
| p.E349K | BLCA | 1 |
| p.A182V | LIHC | 1 |
| p.Q209* | LGG | 1 |
| p.A272P | SKCM | 1 |
| p.L158M | UCEC | 1 |
| p.P152A | BLCA | 1 |
| p.A256V | CHOL | 1 |
| p.T350M | COAD | 1 |
| p.G109C | GBM | 1 |
| p.V273F | LUAD | 1 |
| p.T392S | LUAD | 1 |
| p.P197L | OV | 1 |
| p.A365V | ESCA | 1 |
| p.M10I | SKCM | 1 |
| p.L338M | BRCA | 1 |
| p.G390V | LIHC | 1 |
| p.N397H | PRAD | 1 |
| p.L147F | SKCM | 1 |
| p.E87K | COAD | 1 |
| p.D166N | LUAD | 1 |
| p.A188V | UCS | 1 |
| p.P486R | PRAD | 1 |
| p.D167N | UCS | 1 |
| p.G386V | THYM | 1 |
| p.E266K | UCEC | 1 |
| p.D343Y | KIRC | 1 |
| p.Y172C | LGG | 1 |
| p.R396H | STAD | 1 |
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| TissGeneCNV for TBX1 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for TBX1 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | AI131138 | TBX1-CUL9 | chr22:19747709 | chr6:43163808 | |
| TCGAfusionPortal | PRADA | LUAD | TCGA-55-8506-01A | TBX1-SEPT5 | In-frame | Chr22:19752636 | Chr22:19707125 |
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| TissGeneNet for TBX1 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| COAD (tumor) | COAD (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| KICH (tumor) | KICH (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| STAD (tumor) | STAD (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| THCA (tumor) | THCA (normal) |
| TBX1, S100A9, TERF2, TERF1 (tumor) | TBX1, S100A9, TERF2, TERF1 (normal) |
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| TissGeneProg for TBX1 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for TBX1 |
| TissGeneDrug for TBX1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for TBX1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0220704 | Shprintzen syndrome | 60 | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT |
| umls:C0012236 | DiGeorge Syndrome | 55 | BeFree,CLINVAR,CTD_human,LHGDN,MGD,ORPHANET,UNIPROT |
| umls:C0008487 | Chordoma | 20 | BeFree |
| umls:C0000768 | Congenital Abnormality | 19 | BeFree |
| umls:C0018798 | Congenital Heart Defects | 14 | BeFree,CTD_human,GAD |
| umls:C0036341 | Schizophrenia | 14 | BeFree,GAD,LHGDN |
| umls:C0338591 | Amnesia, Transient Global | 11 | BeFree |
| umls:C0162872 | Aortic Aneurysm, Thoracic | 10 | BeFree |
| umls:C0741916 | Cardiac defects | 10 | BeFree |
| umls:C2936346 | 22q11 Deletion Syndrome | 9 | BeFree,ORPHANET |
| umls:C0027627 | Neoplasm Metastasis | 8 | BeFree |
| umls:C0039685 | Tetralogy of Fallot | 8 | BeFree,CLINVAR,CTD_human,GAD |
| umls:C0004936 | Mental disorders | 7 | BeFree |
| umls:C0265493 | Cat eye syndrome | 6 | BeFree |
| umls:C0008925 | Cleft Palate | 5 | BeFree |
| umls:C0376634 | Craniofacial Abnormalities | 5 | BeFree,CTD_human |
| umls:C0006142 | Malignant neoplasm of breast | 4 | BeFree |
| umls:C0678222 | Breast Carcinoma | 4 | BeFree |
| umls:C0684249 | Carcinoma of lung | 4 | BeFree |
| umls:C0007570 | Celiac Disease | 3 | BeFree |
| umls:C0009402 | Colorectal Carcinoma | 3 | BeFree |
| umls:C0018818 | Ventricular Septal Defects | 3 | BeFree |
| umls:C0024121 | Lung Neoplasms | 3 | BeFree |
| umls:C0026499 | Monosomy | 3 | BeFree |
| umls:C0036337 | Schizoaffective Disorder | 3 | BeFree |
| umls:C0220810 | Congenital defects | 3 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 3 | BeFree |
| umls:C1527249 | Colorectal Cancer | 3 | BeFree |
| umls:C0003873 | Rheumatoid Arthritis | 2 | BeFree |
| umls:C0005283 | beta Thalassemia | 2 | BeFree |
| umls:C0005967 | Bone neoplasms | 2 | BeFree |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 2 | BeFree |
| umls:C0008626 | Congenital chromosomal disease | 2 | BeFree |
| umls:C0010606 | Adenoid Cystic Carcinoma | 2 | BeFree |
| umls:C0013069 | Double Outlet Right Ventricle | 2 | BeFree |
| umls:C0018817 | Atrial Septal Defects | 2 | BeFree |
| umls:C0025202 | melanoma | 2 | BeFree |
| umls:C0025362 | Mental Retardation | 2 | BeFree |
| umls:C0033975 | Psychotic Disorders | 2 | BeFree |
| umls:C0042454 | Velopharyngeal Insufficiency | 2 | BeFree |
| umls:C0085580 | Essential Hypertension | 2 | BeFree |
| umls:C0152021 | Congenital heart disease | 2 | BeFree |
| umls:C0178874 | Tumor Progression | 2 | BeFree |
| umls:C0240340 | Microdontia (disorder) | 2 | BeFree |
| umls:C0265264 | Holt-Oram syndrome | 2 | BeFree |
| umls:C0266617 | Congenital anomaly of face | 2 | BeFree |
| umls:C0349204 | Nonorganic psychosis | 2 | BeFree |
| umls:C0686619 | Secondary malignant neoplasm of lymph node | 2 | BeFree |
| umls:C0751265 | Learning Disabilities | 2 | BeFree |
| umls:C1510586 | Autism Spectrum Disorders | 2 | BeFree |
| umls:C1857586 | CONOTRUNCAL HEART MALFORMATIONS (disorder) | 2 | BeFree,CTD_human,UNIPROT |
| umls:C1866994 | Ulnar-mammary syndrome | 2 | BeFree |
| umls:C0001418 | Adenocarcinoma | 1 | BeFree |
| umls:C0002878 | Anemia, Hemolytic | 1 | BeFree |
| umls:C0003469 | Anxiety Disorders | 1 | BeFree |
| umls:C0004096 | Asthma | 1 | BeFree |
| umls:C0004930 | Behavior Disorders | 1 | BeFree |
| umls:C0005586 | Bipolar Disorder | 1 | BeFree |
| umls:C0007107 | Malignant neoplasm of larynx | 1 | BeFree |
| umls:C0007133 | Carcinoma, Papillary | 1 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
| umls:C0007222 | Cardiovascular Diseases | 1 | BeFree |
| umls:C0008073 | Developmental Disabilities | 1 | BeFree |
| umls:C0008628 | Chromosome Deletion | 1 | GAD |
| umls:C0008928 | Cleidocranial Dysplasia | 1 | BeFree |
| umls:C0011881 | Diabetic Nephropathy | 1 | BeFree |
| umls:C0013336 | Dwarfism | 1 | BeFree |
| umls:C0013447 | Ear Diseases | 1 | BeFree |
| umls:C0013720 | Ehlers-Danlos Syndrome | 1 | BeFree |
| umls:C0019163 | Hepatitis B | 1 | BeFree |
| umls:C0020456 | Hyperglycemia | 1 | BeFree |
| umls:C0020626 | Hypoparathyroidism | 1 | BeFree |
| umls:C0022658 | Kidney Diseases | 1 | BeFree |
| umls:C0023186 | Learning Disorders | 1 | BeFree |
| umls:C0023374 | Lesch-Nyhan Syndrome | 1 | BeFree |
| umls:C0023817 | Hyperlipoproteinemia Type I | 1 | BeFree |
| umls:C0024809 | Marijuana Abuse | 1 | GAD |
| umls:C0027070 | Myoepithelioma | 1 | BeFree |
| umls:C0027831 | Neurofibromatosis 1 | 1 | BeFree |
| umls:C0028754 | Obesity | 1 | BeFree |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| umls:C0033941 | Psychoses, Substance-Induced | 1 | GAD |
| umls:C0042974 | von Willebrand Disease | 1 | BeFree |
| umls:C0085859 | Polyglandular Type I Autoimmune Syndrome | 1 | BeFree |
| umls:C0086795 | Pfaundler-Hurler Syndrome | 1 | BeFree |
| umls:C0149939 | Obstructive nephropathy | 1 | BeFree |
| umls:C0151650 | Renal fibrosis | 1 | BeFree |
| umls:C0153676 | Secondary malignant neoplasm of lung | 1 | BeFree |
| umls:C0175754 | Agenesis of corpus callosum | 1 | BeFree |
| umls:C0178664 | Glomerulosclerosis (disorder) | 1 | BeFree |
| umls:C0205698 | Undifferentiated carcinoma | 1 | BeFree |
| umls:C0235833 | Congenital diaphragmatic hernia | 1 | BeFree |
| umls:C0235989 | Renal interstitial fibrosis | 1 | BeFree |
| umls:C0239234 | Low set ears | 1 | BeFree |
| umls:C0265291 | Kenny-Caffey syndrome | 1 | BeFree |
| umls:C0268583 | Methylmalonic acidemia | 1 | BeFree |
| umls:C0272322 | Severe hereditary factor VIII deficiency disease | 1 | BeFree |
| umls:C0272375 | Antithrombin III Deficiency | 1 | BeFree |
| umls:C0280141 | Acute Undifferentiated Leukemia | 1 | BeFree |
| umls:C0300948 | Caudal Regression Syndrome | 1 | BeFree |
| umls:C0311213 | Dermatitis verrucosa | 1 | BeFree |
| umls:C0334586 | Pleomorphic Xanthoastrocytoma | 1 | BeFree |
| umls:C0341154 | Esophageal atresia with tracheoesophageal fistula (disorder) | 1 | BeFree |
| umls:C0341858 | Endometriosis of uterus | 1 | BeFree |
| umls:C0344490 | Sacral agenesis | 1 | BeFree |
| umls:C0345065 | Cervical aortic arch | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | GWASCAT |
| umls:C0398564 | Deficiency of adenylate kinase | 1 | BeFree |
| umls:C0409959 | Osteoarthritis, Knee | 1 | BeFree |
| umls:C0426799 | Congenital hypoplasia of clavicle | 1 | BeFree |
| umls:C0476089 | Endometrial Carcinoma | 1 | BeFree |
| umls:C0525045 | Mood Disorders | 1 | BeFree |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C0746402 | manic symptom | 1 | BeFree |
| umls:C0751951 | Central Core Myopathy (disorder) | 1 | BeFree |
| umls:C0796137 | 3C syndrome | 1 | BeFree |
| umls:C1263846 | Attention deficit hyperactivity disorder | 1 | BeFree |
| umls:C1266175 | Parachordoma | 1 | BeFree |
| umls:C1378511 | Undifferentiated leukemia | 1 | BeFree |
| umls:C1385263 | facial deformity | 1 | BeFree |
| umls:C1458155 | Mammary Neoplasms | 1 | BeFree |
| umls:C1520166 | Xenograft Model | 1 | BeFree |
| umls:C1836929 | Emanuel syndrome | 1 | BeFree |
| umls:C1861028 | Esophageal atresia with or without tracheoesophageal fistula | 1 | BeFree |
| umls:C2239176 | Liver carcinoma | 1 | BeFree |
| umls:C2242816 | Chronic secretory otitis media | 1 | BeFree |
| umls:C2675369 | Chromosome 22q11.2 Microduplication Syndrome | 1 | BeFree,ORPHANET |
| umls:C2931072 | Epidermolysa bullosa simplex and limb girdle muscular dystrophy | 1 | BeFree |
| umls:C3151189 | C9 Deficiency | 1 | BeFree |
| umls:C0004352 | Autistic Disorder | 0 | MGD |
| umls:C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | 0 | ORPHANET |
| umls:C1833692 | OTITIS MEDIA, SUSCEPTIBILITY TO (finding) | 0 | MGD |
| umls:C3266101 | 22q11 partial monosomy syndrome | 0 | ORPHANET |
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