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| TissGeneSummary for TGFBI |
 Gene summary |
| Basic gene information | Gene symbol | TGFBI |
| Gene name | transforming growth factor, beta-induced, 68kDa | |
| Synonyms | BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1 | |
| Cytomap | UCSC genome browser: 5q31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000358.2, | |
| Description | RGD-CAPRGD-containing collagen-associated proteinbeta ig-h3kerato-epithelintransforming growth factor, beta-induced, 68kDtransforming growth factor-beta-induced protein ig-h3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601692 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000120708 | ||
| HPRD : 03409 | ||
| Vega : OTTHUMG00000163213 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TGFBI | |
| BioGPS: 7045 | ||
| Pathway | NCI Pathway Interaction Database: TGFBI | |
| KEGG: TGFBI | ||
| REACTOME: TGFBI | ||
| Pathway Commons: TGFBI | ||
| Context | iHOP: TGFBI | |
| ligand binding site mutation search in PubMed: TGFBI | ||
| UCL Cancer Institute: TGFBI | ||
| 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) | KidneySkin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHSKCM | |
| Reference showing the relevant tissue of TGFBI | ||
| Description by TissGene annotations | Cancer gene Fused withOncogene Fused withTSGene | |
| * 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 |
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| TissGeneExp for TGFBI |
| 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 |
| KIRP | 0.264428945 | -1.014352305 | 1.27878125 | 1.42E-05 | 5.72E-05 |
| THCA | -0.289181595 | -1.867905324 | 1.578723729 | 4.70E-13 | 4.50E-12 |
| HNSC | 2.677997041 | -0.444182029 | 3.12217907 | 7.94E-19 | 4.47E-16 |
| COAD | 2.920032551 | 0.037082551 | 2.88295 | 1.65E-12 | 3.93E-11 |
| KIRC | 2.756427209 | -0.394126957 | 3.150554167 | 1.93E-17 | 1.19E-16 |
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| TissGene-miRNA for TGFBI |
| 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 TGFBI |
| TissGeneSNV for TGFBI |
| 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.D233N | LUAD | 1 |
| p.E83K | KIRC | 1 |
| p.T125M | LUAD | 1 |
| p.E529K | SKCM | 1 |
| p.V112I | STAD | 1 |
| p.E126K | SKCM | 1 |
| p.T621P | SKCM | 1 |
| p.R555Q | COAD | 1 |
| p.P552L | LIHC | 1 |
| p.D233N | UCEC | 1 |
| p.L472F | BRCA | 1 |
| p.T240A | PAAD | 1 |
| p.V505F | ESCA | 1 |
| p.R432T | LUSC | 1 |
| p.V625A | ACC | 1 |
| p.T504N | UCEC | 1 |
| p.A480V | UCEC | 1 |
| p.S375* | LUSC | 1 |
| p.P500T | HNSC | 1 |
| p.R216W | CESC | 1 |
| p.L231F | HNSC | 1 |
| p.R124C | SKCM | 1 |
| p.V155E | LUAD | 1 |
| p.S405F | SKCM | 1 |
| p.T281N | LGG | 1 |
| p.W38* | UCEC | 1 |
| p.R257W | STAD | 1 |
| p.S193F | SKCM | 1 |
| p.T538I | LGG | 1 |
| p.G227E | SKCM | 1 |
| p.R469H | UCEC | 1 |
| p.G535E | SKCM | 1 |
| p.D123N | SKCM | 1 |
| p.R47H | UCEC | 1 |
| p.R496L | LUAD | 1 |
| p.P612S | LAML | 1 |
| p.R304K | BLCA | 1 |
| p.K590T | UCEC | 1 |
| p.N609H | STAD | 1 |
| p.G341E | SKCM | 1 |
| p.S150F | SKCM | 1 |
| p.T493M | STAD | 1 |
| p.T122M | STAD | 1 |
| p.A650V | UCEC | 1 |
| p.D305G | LIHC | 1 |
| p.M132I | SKCM | 1 |
| p.R469H | CESC | 1 |
| p.R257W | SKCM | 1 |
| p.S193C | CESC | 1 |
| p.I522T | UCS | 1 |
| p.T629I | SKCM | 1 |
| p.G460D | ESCA | 1 |
| p.I288M | KIRC | 1 |
| p.D299N | STAD | 1 |
| p.T411A | UCEC | 1 |
| p.M268I | GBM | 1 |
| p.P542S | HNSC | 1 |
| p.I357M | BRCA | 1 |
| p.L531V | HNSC | 1 |
| p.E611K | BRCA | 1 |
| p.L559W | DLBC | 1 |
| p.N199S | UCEC | 1 |
| p.S186* | UCEC | 1 |
| p.G227A | LUAD | 1 |
| p.L586M | KIRC | 1 |
| p.R638K | SKCM | 1 |
| p.V508I | LUAD | 1 |
| p.L404F | SKCM | 1 |
| p.D507V | UCEC | 1 |
| p.P415S | SKCM | 1 |
| p.E381K | LIHC | 1 |
| p.R469C | SKCM | 1 |
| p.R216Q | PRAD | 1 |
| p.H222D | HNSC | 1 |
| p.M316I | LIHC | 1 |
| p.A350V | STAD | 1 |
| p.G460D | LUAD | 1 |
| p.D251G | STAD | 1 |
| p.D233N | LUSC | 1 |
| p.S353F | SKCM | 1 |
| p.G227R | SKCM | 1 |
| p.L651I | ACC | 1 |
| p.R680M | STAD | 1 |
| p.I165T | LGG | 1 |
| p.E336K | LUSC | 1 |
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| TissGeneCNV for TGFBI |
| 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 TGFBI |
| 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 | DA549106 | TGFBI-TGFBI | chr5:135396556 | chr5:135389662 | |
| Chimerdb3.0 | ChiTaRs | NA | AW239032 | TGFBI-ZYX | chr5:135383072 | chr7:143085700 | |
| Chimerdb3.0 | ChiTaRs | NA | BI058885 | TGFBI-MYH9 | chr5:135385193 | chr22:36690992 | |
| Chimerdb3.0 | ChiTaRs | NA | AA166724 | TGFBI-HLA-C | chr5:135398965 | chr6:2617088 | |
| Chimerdb3.0 | ChiTaRs | NA | AB209598 | TGFBI-CNPY3 | chr5:135390878 | chr6:42906903 | |
| Chimerdb3.0 | ChiTaRs | NA | DA027118 | EIF4A2-TGFBI | chr3:186503752 | chr5:135364680 | |
| Chimerdb3.0 | ChiTaRs | NA | BC007229 | ABCC5-TGFBI | chr3:183732135 | chr5:135397183 | |
| Chimerdb3.0 | ChiTaRs | NA | AA367699 | TGFBI-SH3PXD2A | chr5:135394881 | chr10:105402306 | |
| Chimerdb3.0 | ChiTaRs | NA | CN483753 | TGFBI-TGFBI | chr5:135391487 | chr5:135382990 | |
| Chimerdb3.0 | ChiTaRs | NA | BE736691 | LMO7-TGFBI | chr13:76335180 | chr5:135382540 | |
| Chimerdb3.0 | ChiTaRs | NA | BM994942 | ANKS1B-TGFBI | chr12:100222895 | chr5:135382992 | |
| Chimerdb3.0 | FusionScan | LUAD | TCGA-55-6978-01A | TGFBI-MYH9 | In-Frame | chr5:135369550 | chr22:36701148 |
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| TissGeneNet for TGFBI |
| 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) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| COAD (tumor) | COAD (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| KICH (tumor) | KICH (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| STAD (tumor) | STAD (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| THCA (tumor) | THCA (normal) |
| TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (tumor) | TGFBI, FN1, COL1A1, COL2A1, COL4A3, COL1A2, COL4A1, A2M, COL4A2, ITGAM, COL4A4 (normal) |
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| TissGeneProg for TGFBI |
| 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 TGFBI |
| TissGeneDrug for TGFBI |
| 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 TGFBI |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0010036 | Corneal dystrophy | 77 | BeFree,GAD |
| umls:C1690006 | Lattice corneal dystrophy Type I | 42 | BeFree,CLINVAR,CTD_human,GAD,ORPHANET,UNIPROT |
| umls:C0155127 | Familial Amyloid Polyneuropathy, Type V | 30 | BeFree |
| umls:C1275685 | Avellino corneal dystrophy | 20 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0018179 | Granular Dystrophy, Corneal | 19 | BeFree,GAD |
| umls:C0339278 | Reis-Bucklers' corneal dystrophy | 12 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0339273 | Corneal dystrophy, Lattice type 3 | 6 | BeFree |
| umls:C1837974 | Corneal Dystrophy, Lattice Type IIIA | 6 | BeFree,CLINVAR,CTD_human,UNIPROT |
| umls:C0002726 | Amyloidosis | 5 | BeFree,LHGDN |
| umls:C0038457 | Stromal Dystrophies, Corneal | 4 | BeFree |
| umls:C0162281 | Corneal deposit | 4 | BeFree |
| umls:C1562894 | Thiel-Behnke corneal dystrophy | 4 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C2936349 | Plaque, Amyloid | 4 | BeFree |
| umls:C0010035 | Hereditary corneal dystrophy | 3 | BeFree,GAD |
| umls:C0011881 | Diabetic Nephropathy | 3 | CTD_human,LHGDN,RGD |
| umls:C0016781 | Fuchs Endothelial Dystrophy | 3 | BeFree |
| umls:C0022578 | Keratoconus | 3 | BeFree |
| umls:C0025202 | melanoma | 3 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 3 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 3 | BeFree |
| umls:C0596263 | Carcinogenesis | 3 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 3 | BeFree |
| umls:C1641846 | Groenouw corneal dystrophy type I (disorder) | 3 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C2939149 | Amyloid of cornea | 3 | BeFree |
| umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
| umls:C0010034 | Corneal Diseases | 2 | BeFree,LHGDN |
| umls:C0017638 | Glioma | 2 | BeFree |
| umls:C0022658 | Kidney Diseases | 2 | BeFree,RGD |
| umls:C0023418 | leukemia | 2 | BeFree |
| umls:C0024623 | Malignant neoplasm of stomach | 2 | BeFree |
| umls:C0152013 | Adenocarcinoma of lung (disorder) | 2 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree |
| umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 2 | BeFree |
| umls:C0677886 | Epithelial ovarian cancer | 2 | BeFree |
| umls:C0684249 | Carcinoma of lung | 2 | BeFree |
| umls:C0699791 | Stomach Carcinoma | 2 | BeFree |
| umls:C2239176 | Liver carcinoma | 2 | BeFree |
| umls:C0000786 | Spontaneous abortion | 1 | CTD_human |
| umls:C0003873 | Rheumatoid Arthritis | 1 | LHGDN |
| umls:C0004153 | Atherosclerosis | 1 | LHGDN |
| umls:C0007138 | Carcinoma, Transitional Cell | 1 | BeFree |
| umls:C0010038 | Corneal Opacity | 1 | LHGDN |
| umls:C0011644 | Scleroderma | 1 | BeFree |
| umls:C0011847 | Diabetes | 1 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | BeFree |
| umls:C0011875 | Diabetic Angiopathies | 1 | BeFree |
| umls:C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| umls:C0023290 | Leishmaniasis, Visceral | 1 | BeFree |
| umls:C0023890 | Liver Cirrhosis | 1 | BeFree |
| umls:C0024121 | Lung Neoplasms | 1 | LHGDN |
| umls:C0027819 | Neuroblastoma | 1 | BeFree |
| umls:C0030297 | Pancreatic Neoplasm | 1 | LHGDN |
| umls:C0033578 | Prostatic Neoplasms | 1 | BeFree |
| umls:C0034069 | Pulmonary Fibrosis | 1 | BeFree |
| umls:C0036341 | Schizophrenia | 1 | LHGDN |
| umls:C0036421 | Systemic Scleroderma | 1 | BeFree |
| umls:C0149931 | Migraine Disorders | 1 | BeFree |
| umls:C0153676 | Secondary malignant neoplasm of lung | 1 | BeFree |
| umls:C0154723 | Migraine with Aura | 1 | BeFree |
| umls:C0268151 | Classical galactosemia | 1 | BeFree |
| umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | BeFree |
| umls:C0282577 | Congenital Disorders of Glycosylation | 1 | BeFree |
| umls:C0333186 | Restenosis | 1 | BeFree |
| umls:C0333307 | Superficial ulcer | 1 | BeFree |
| umls:C0345905 | Intrahepatic Cholangiocarcinoma | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0494165 | Secondary malignant neoplasm of liver | 1 | BeFree |
| umls:C0521723 | Corneal dystrophy, epithelial basement membrane | 1 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0919267 | ovarian neoplasm | 1 | LHGDN |
| umls:C1527249 | Colorectal Cancer | 1 | BeFree |
| umls:C1623038 | Cirrhosis | 1 | BeFree |
| umls:C1832884 | Hemiplegic migraine, familial type 1 | 1 | BeFree |
| umls:C1956346 | Coronary Artery Disease | 1 | GAD,LHGDN |
| umls:C2145472 | Urothelial Carcinoma | 1 | BeFree |
| umls:C2931822 | Nasopharyngeal carcinoma | 1 | BeFree |
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