TissGeneSummary for TMPRSS6 |
Gene summary |
Basic gene information | Gene symbol | TMPRSS6 |
Gene name | transmembrane protease, serine 6 | |
Synonyms | IRIDA | |
Cytomap | UCSC genome browser: 22q12.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001289000.1, NM_001289001.1,NM_153609.3, | |
Description | matriptase-2membrane-bound mosaic serine proteinase matriptase-2transmembrane protease serine 6type II transmembrane serine protease 6 | |
Modification date | 20141222 | |
dbXrefs | MIM : 609862 | |
HGNC : HGNC | ||
Ensembl : ENSG00000187045 | ||
HPRD : 10270 | ||
Vega : OTTHUMG00000150541 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TMPRSS6 | |
BioGPS: 164656 | ||
Pathway | NCI Pathway Interaction Database: TMPRSS6 | |
KEGG: TMPRSS6 | ||
REACTOME: TMPRSS6 | ||
Pathway Commons: TMPRSS6 | ||
Context | iHOP: TMPRSS6 | |
ligand binding site mutation search in PubMed: TMPRSS6 | ||
UCL Cancer Institute: TMPRSS6 | ||
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) | Liver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
Reference showing the relevant tissue of TMPRSS6 | ||
Description by TissGene annotations | Cancer gene |
* 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:0006508 | proteolysis | 12149247 | GO:0042730 | fibrinolysis | 12149247 | GO:0006508 | proteolysis | 12149247 | GO:0042730 | fibrinolysis | 12149247 |
Top |
TissGeneExp for TMPRSS6 |
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) |
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) |
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. |
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) |
- 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 |
THCA | 4.990770625 | -1.21373107 | 6.204501695 | 2.12E-18 | 5.59E-17 |
LUSC | -0.265989993 | 1.283482556 | -1.549472549 | 7.84E-10 | 2.72E-09 |
BRCA | 1.857565838 | 0.485781627 | 1.371784211 | 9.61E-06 | 2.38E-05 |
STAD | -0.757233559 | 0.718672691 | -1.47590625 | 0.000524 | 0.003134245 |
KIRP | 0.163178941 | -1.814849184 | 1.978028125 | 5.36E-05 | 0.000194767 |
Top |
TissGene-miRNA for TMPRSS6 |
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 |
Top |
TissGeneMut for TMPRSS6 |
TissGeneSNV for TMPRSS6 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.V302I | GBM | 2 |
p.G779R | KIRC | 1 |
p.V227M | LIHC | 1 |
p.D731N | SKCM | 1 |
p.E652K | LUAD | 1 |
p.S279_splice | LUSC | 1 |
p.A493G | LGG | 1 |
p.V324M | STAD | 1 |
p.L388P | STAD | 1 |
p.A205S | LUSC | 1 |
p.S58L | SKCM | 1 |
p.S717I | PAAD | 1 |
p.Q222* | SKCM | 1 |
p.T422S | LUAD | 1 |
p.P778S | SKCM | 1 |
p.F789L | LUSC | 1 |
p.V660M | PAAD | 1 |
p.R43C | SARC | 1 |
p.A68V | PAAD | 1 |
p.S67L | READ | 1 |
p.Y74F | KIRC | 1 |
p.A179S | LUAD | 1 |
p.R787H | LGG | 1 |
p.E296V | COAD | 1 |
p.R744L | LUAD | 1 |
p.R757L | LUAD | 1 |
p.P418L | SKCM | 1 |
p.E72K | HNSC | 1 |
p.V161L | BLCA | 1 |
p.G636E | SKCM | 1 |
p.D744N | SKCM | 1 |
p.L463F | SKCM | 1 |
p.P418H | UCEC | 1 |
p.R381K | SKCM | 1 |
p.E652Q | BLCA | 1 |
p.E81K | HNSC | 1 |
p.R214C | SKCM | 1 |
p.A264T | CESC | 1 |
p.L454F | SKCM | 1 |
p.A708V | KICH | 1 |
p.G571R | SKCM | 1 |
p.P24L | PRAD | 1 |
p.R446W | PAAD | 1 |
p.P159S | SKCM | 1 |
p.P7L | LUAD | 1 |
p.P345L | PRAD | 1 |
p.A592D | STAD | 1 |
p.P33S | OV | 1 |
p.A309V | BRCA | 1 |
p.E34* | UCEC | 1 |
p.V180I | GBM | 1 |
p.E258Q | BLCA | 1 |
p.T427K | STAD | 1 |
p.R97H | CHOL | 1 |
p.E72K | BLCA | 1 |
p.H651Y | SKCM | 1 |
p.V809M | UCEC | 1 |
p.R487K | SKCM | 1 |
p.G792R | KIRC | 1 |
p.G132V | UCEC | 1 |
p.G645E | SKCM | 1 |
p.D521N | SKCM | 1 |
p.D385E | LUAD | 1 |
p.A674T | UCEC | 1 |
p.G23R | SKCM | 1 |
p.V822M | UCEC | 1 |
p.K120N | SKCM | 1 |
p.R811S | LUAD | 1 |
p.Y355H | READ | 1 |
p.R404H | CESC | 1 |
p.E661Q | BLCA | 1 |
p.T418K | STAD | 1 |
p.R39W | HNSC | 1 |
p.K305N | CESC | 1 |
p.R9K | SKCM | 1 |
p.E200G | HNSC | 1 |
p.X812W | KIRP | 1 |
p.R271P | BRCA | 1 |
p.G474D | ESCA | 1 |
p.D512N | SKCM | 1 |
p.W788* | ACC | 1 |
p.E32D | COAD | 1 |
p.Q807R | UCEC | 1 |
p.E191G | HNSC | 1 |
p.C602F | PAAD | 1 |
p.R590Q | HNSC | 1 |
p.A761V | BLCA | 1 |
p.G14R | SKCM | 1 |
p.S352L | LUSC | 1 |
p.D547N | BLCA | 1 |
p.R478K | SKCM | 1 |
p.A683T | UCEC | 1 |
p.P150S | SKCM | 1 |
p.R223C | SKCM | 1 |
p.C410Y | STAD | 1 |
p.A31V | STAD | 1 |
p.P354L | PRAD | 1 |
p.Q759X | LGG | 1 |
p.E652K | SKCM | 1 |
p.A59V | PAAD | 1 |
p.S67L | SKCM | 1 |
p.C593F | PAAD | 1 |
p.R588W | SARC | 1 |
p.F374V | ESCA | 1 |
p.F619V | STAD | 1 |
p.Q772* | LGG | 1 |
p.A700S | UCEC | 1 |
p.S465Y | COAD | 1 |
p.G228W | PAAD | 1 |
p.W818* | SKCM | 1 |
p.S730I | PAAD | 1 |
p.R103C | PRAD | 1 |
p.D769N | SKCM | 1 |
p.A484G | LGG | 1 |
p.E105K | SKCM | 1 |
p.Q231X | SKCM | 1 |
p.Y452C | KIRP | 1 |
p.R52C | STAD | 1 |
p.W73X | THYM | 1 |
p.E513K | GBM | 1 |
p.G459E | GBM | 1 |
p.G435C | HNSC | 1 |
p.K111N | SKCM | 1 |
p.A791V | PRAD | 1 |
p.F383V | ESCA | 1 |
p.P16L | LUAD | 1 |
Top |
TissGeneCNV for TMPRSS6 |
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) |
Top |
TissGeneFusions for TMPRSS6 |
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 | BF951674 | DYNC1H1-TMPRSS6 | chr14:102510374 | chr22:37468135 | |
Chimerdb3.0 | FusionScan | BRCA | TCGA-C8-A132-01A | TMPRSS6-EME1 | Out-of-Frame | chr22:37485617 | chr17:48455955 |
Chimerdb3.0 | FusionScan | UCEC | TCGA-AJ-A3EM-01A | PLXNB2-TMPRSS6 | 5'UTR-CDS | chr22:50733147 | chr22:37499458 |
TCGAfusionPortal | PRADA | BRCA | TCGA-C8-A132-01A | TMPRSS6-EME1 | Out-of-frame | Chr22:37485618 | Chr17:48455956 |
Top |
TissGeneNet for TMPRSS6 |
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) |
Top |
TissGeneProg for TMPRSS6 |
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. |
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. |
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. |
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. |
Top |
TissGeneClin for TMPRSS6 |
TissGeneDrug for TMPRSS6 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
TissGeneDisease for TMPRSS6 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0085576 | Iron-Refractory Iron Deficiency Anemia | 23 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0162316 | Iron deficiency anemia | 13 | BeFree,CTD_human |
umls:C0240066 | Iron deficiency | 13 | BeFree |
umls:C0002871 | Anemia | 10 | BeFree |
umls:C0178874 | Tumor Progression | 4 | BeFree |
umls:C1458155 | Mammary Neoplasms | 4 | BeFree,LHGDN |
umls:C0018995 | Hemochromatosis | 3 | BeFree |
umls:C0282193 | Iron Overload | 3 | BeFree |
umls:C0392514 | Hereditary hemochromatosis | 3 | BeFree |
umls:C1261502 | Finding of Mean Corpuscular Hemoglobin | 3 | GAD,GWASCAT |
umls:C0006142 | Malignant neoplasm of breast | 2 | BeFree,GAD |
umls:C0376358 | Malignant neoplasm of prostate | 2 | BeFree |
umls:C0600139 | Prostate carcinoma | 2 | BeFree |
umls:C0678222 | Breast Carcinoma | 2 | BeFree |
umls:C2239101 | Hemoglobin Adverse Event | 2 | GAD,GWASCAT |
umls:C0000786 | Spontaneous abortion | 1 | GAD |
umls:C0002893 | Refractory anemias | 1 | BeFree |
umls:C0005283 | beta Thalassemia | 1 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | BeFree |
umls:C0012715 | Iron Metabolism Disorders | 1 | BeFree |
umls:C0020538 | Hypertensive disease | 1 | GAD |
umls:C0023452 | Leukemia, Lymphocytic, Acute, L1 | 1 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
umls:C0030567 | Parkinson Disease | 1 | GAD |
umls:C0033578 | Prostatic Neoplasms | 1 | LHGDN |
umls:C0039730 | Thalassemia | 1 | BeFree |
umls:C0085096 | Peripheral Vascular Diseases | 1 | GAD |
umls:C0268060 | Juvenile hemochromatosis | 1 | BeFree |
umls:C0400966 | Non-alcoholic Fatty Liver Disease | 1 | BeFree |
umls:C0518014 | Hematocrit level | 1 | GAD,GWASCAT |
umls:C0878521 | Beta thalassemia trait | 1 | BeFree |
umls:C2827503 | HFE-Associated Hereditary Hemochromatosis | 1 | BeFree |
umls:C3539878 | Triple Negative Breast Neoplasms | 1 | BeFree |