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| TissGeneSummary for TGM1 |
 Gene summary |
| Basic gene information | Gene symbol | TGM1 |
| Gene name | transglutaminase 1 | |
| Synonyms | ARCI1|ICR2|KTG|LI|LI1|TGASE|TGK | |
| Cytomap | UCSC genome browser: 14q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000359.2, | |
| Description | K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferaseTG(K)TGase KTGase-1epidermal TGaseprotein-glutamine gamma-glutamyltransferase Ktransglutaminase 1 isoformtransglutaminase Ktransglutaminase, keratinocytetransglutaminase-1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 190195 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000092295 | ||
| HPRD : 01824 | ||
| Vega : OTTHUMG00000029329 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TGM1 | |
| BioGPS: 7051 | ||
| Pathway | NCI Pathway Interaction Database: TGM1 | |
| KEGG: TGM1 | ||
| REACTOME: TGM1 | ||
| Pathway Commons: TGM1 | ||
| Context | iHOP: TGM1 | |
| ligand binding site mutation search in PubMed: TGM1 | ||
| UCL Cancer Institute: TGM1 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Esophagus | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | ESCA | |
| Reference showing the relevant tissue of TGM1 | ||
| 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:0030216 | keratinocyte differentiation | 8824274 | GO:0030216 | keratinocyte differentiation | 8824274 |
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| TissGeneExp for TGM1 |
| 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 |
| KICH | -2.284713857 | -0.384481857 | -1.900232 | 2.27E-05 | 6.69E-05 |
| THCA | 0.187834075 | -1.164699823 | 1.352533898 | 1.57E-07 | 6.65E-07 |
| KIRP | -2.722024982 | -0.477649982 | -2.244375 | 6.85E-09 | 5.37E-08 |
| PRAD | -1.314564165 | 0.405556989 | -1.720121154 | 2.74E-10 | 5.25E-09 |
| KIRC | -2.413342691 | -0.765653802 | -1.647688889 | 8.73E-08 | 2.44E-07 |
| BRCA | -2.293161331 | -1.189254313 | -1.103907018 | 7.80E-08 | 2.37E-07 |
| LUAD | -1.910247719 | 1.439541936 | -3.349789655 | 6.49E-36 | 2.08E-33 |
| HNSC | 5.080652561 | 7.211310701 | -2.13065814 | 0.000881 | 0.003040261 |
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| TissGene-miRNA for TGM1 |
| 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 TGM1 |
| TissGeneSNV for TGM1 |
| 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.R78Q | UCEC | 2 |
| p.R162C | SKCM | 2 |
| p.R240H | UCEC | 1 |
| p.R36H | UCEC | 1 |
| p.Q234* | SKCM | 1 |
| p.D132N | STAD | 1 |
| p.V741I | COAD | 1 |
| p.W455G | BRCA | 1 |
| p.R83L | LUSC | 1 |
| p.Y277* | SKCM | 1 |
| p.S120L | SKCM | 1 |
| p.R389C | BLCA | 1 |
| p.V781A | UCEC | 1 |
| p.N535I | STAD | 1 |
| p.G369R | SKCM | 1 |
| p.P80L | SKCM | 1 |
| p.R225H | GBM | 1 |
| p.R54Q | SKCM | 1 |
| p.R208Q | LIHC | 1 |
| p.R507W | STAD | 1 |
| p.V557L | BRCA | 1 |
| p.R89W | SKCM | 1 |
| p.S343C | LUAD | 1 |
| p.D414N | SKCM | 1 |
| p.T559I | STAD | 1 |
| p.R121L | LUAD | 1 |
| p.A651S | LUAD | 1 |
| p.Y277X | SKCM | 1 |
| p.S24C | LUSC | 1 |
| p.R689C | STAD | 1 |
| p.V432F | LIHC | 1 |
| p.M149T | LIHC | 1 |
| p.A681S | BLCA | 1 |
| p.W378L | SKCM | 1 |
| p.D333N | SKCM | 1 |
| p.S431F | SKCM | 1 |
| p.L152F | SKCM | 1 |
| p.F401C | SARC | 1 |
| p.V359L | LUAD | 1 |
| p.R36C | BLCA | 1 |
| p.P716H | THYM | 1 |
| p.R225L | BLCA | 1 |
| p.V624A | UCEC | 1 |
| p.V589L | LUSC | 1 |
| p.T409I | STAD | 1 |
| p.P373S | SKCM | 1 |
| p.V679M | SKCM | 1 |
| p.S228X | CHOL | 1 |
| p.G511D | PAAD | 1 |
| p.G793E | SKCM | 1 |
| p.P184Q | SKCM | 1 |
| p.G39E | BLCA | 1 |
| p.R608C | SKCM | 1 |
| p.T279I | SKCM | 1 |
| p.R367C | UCEC | 1 |
| p.E807G | SKCM | 1 |
| p.L659P | OV | 1 |
| p.F247L | LIHC | 1 |
| p.R645H | ESCA | 1 |
| p.P80S | SKCM | 1 |
| p.V778L | SKCM | 1 |
| p.S550L | BLCA | 1 |
| p.T409K | ESCA | 1 |
| p.S122L | COAD | 1 |
| p.S92T | ESCA | 1 |
| p.S228* | CHOL | 1 |
| p.L424P | THYM | 1 |
| p.G357R | BRCA | 1 |
| p.S769R | KIRP | 1 |
| p.D743N | SKCM | 1 |
| p.A588V | PAAD | 1 |
| p.E280K | PAAD | 1 |
| p.H129Q | UCEC | 1 |
| p.V660M | SARC | 1 |
| p.D414G | STAD | 1 |
| p.N113K | PAAD | 1 |
| p.S190T | COAD | 1 |
| p.P649S | SKCM | 1 |
| p.R554Q | UCEC | 1 |
| p.E280X | THYM | 1 |
| p.R208L | PRAD | 1 |
| p.P213S | LUAD | 1 |
| p.T22M | COAD | 1 |
| p.S92F | SKCM | 1 |
| p.Q265H | UCEC | 1 |
| p.R83W | SKCM | 1 |
| p.S467C | LUAD | 1 |
| p.G278R | BRCA | 1 |
| p.A56V | PRAD | 1 |
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| TissGeneCNV for TGM1 |
| 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 TGM1 |
| 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 |
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| TissGeneNet for TGM1 |
| 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) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| COAD (tumor) | COAD (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| KICH (tumor) | KICH (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| STAD (tumor) | STAD (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| THCA (tumor) | THCA (normal) |
| TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (tumor) | TGM1, JUN, SNCA, JUND, HSPB1, RARRES3, JUNB, SEMG1, MDK, SEMG2 (normal) |
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| TissGeneProg for TGM1 |
| 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 TGM1 |
| TissGeneDrug for TGM1 |
| 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 TGM1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | 48 | BeFree,CTD_human,GAD,LHGDN,ORPHANET |
| umls:C0020758 | Congenital ichthyosis | 22 | BeFree,MGD,ORPHANET,UNIPROT |
| umls:C0020757 | Ichthyoses | 11 | BeFree,LHGDN |
| umls:C0175693 | Russell-Silver syndrome | 7 | BeFree |
| umls:C0004903 | Beckwith-Wiedemann Syndrome | 6 | BeFree |
| umls:C0079583 | Ichthyosiform Erythroderma, Congenital | 5 | BeFree,GAD |
| umls:C0033860 | Psoriasis | 3 | BeFree |
| umls:C1274215 | Autosomal recessive ichthyosis | 3 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 2 | BeFree |
| umls:C0013238 | Dry Eye Syndromes | 2 | BeFree,CTD_human |
| umls:C0020179 | Huntington Disease | 2 | BeFree,LHGDN |
| umls:C0037274 | Dermatologic disorders | 2 | BeFree |
| umls:C0037277 | Skin Diseases, Genetic | 2 | BeFree |
| umls:C0079153 | Hyperkeratosis, Epidermolytic | 2 | BeFree |
| umls:C0079588 | Ichthyosis, X-Linked | 2 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree,GAD |
| umls:C0263454 | Chloracne | 2 | BeFree,CTD_human |
| umls:C1855789 | Self-Healing Collodion Baby | 2 | BeFree |
| umls:C2720163 | Placental Steroid Sulfatase Deficiency | 2 | BeFree |
| umls:C0002395 | Alzheimer's Disease | 1 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 1 | BeFree |
| umls:C0011608 | Dermatitis Herpetiformis | 1 | LHGDN |
| umls:C0011615 | Dermatitis, Atopic | 1 | BeFree |
| umls:C0013592 | Ectropion | 1 | BeFree |
| umls:C0013595 | Eczema | 1 | BeFree |
| umls:C0017650 | Globus Hystericus | 1 | BeFree |
| umls:C0020620 | Hypohidrosis | 1 | BeFree |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | BeFree |
| umls:C0023487 | Acute Promyelocytic Leukemia | 1 | BeFree |
| umls:C0023895 | Liver diseases | 1 | CTD_human |
| umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
| umls:C0024121 | Lung Neoplasms | 1 | LHGDN |
| umls:C0038325 | Stevens-Johnson Syndrome | 1 | BeFree |
| umls:C0038868 | Progressive supranuclear palsy | 1 | BeFree |
| umls:C0042842 | Vitamin A Deficiency | 1 | CTD_human |
| umls:C0079584 | Ichthyosis Vulgaris | 1 | BeFree |
| umls:C0085400 | Neurofibrillary degeneration (morphologic abnormality) | 1 | BeFree |
| umls:C0149925 | Small cell carcinoma of lung | 1 | BeFree |
| umls:C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| umls:C0239849 | Harlequin Fetus | 1 | BeFree |
| umls:C0314719 | Dryness of eye | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0474339 | Keratinization of ocular surface | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0684249 | Carcinoma of lung | 1 | BeFree |
| umls:C0870082 | Hyperkeratosis | 1 | BeFree |
| umls:C1285162 | Degenerative disorder | 1 | BeFree |
| umls:C1557335 | Ocular surface disease | 1 | BeFree |
| umls:C2717836 | Steroid Sulfatase Deficiency Disease | 1 | BeFree |
| umls:C3536797 | Ichthyosis Congenita II | 1 | BeFree,CLINVAR |
| umls:C1855792 | ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 | 0 | CTD_human |
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