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Gene: TMPRSS6 |
Gene summary for TMPRSS6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TMPRSS6 | Gene ID | 164656 |
| Gene name | transmembrane serine protease 6 | |
| Gene Alias | IRIDA | |
| Cytomap | 22q12.3 | |
| Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q8IU80 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 164656 | TMPRSS6 | male-WTA | Human | Thyroid | PTC | 5.71e-10 | 1.58e-01 | 0.1037 |
| 164656 | TMPRSS6 | PTC01 | Human | Thyroid | PTC | 1.21e-04 | 1.47e-01 | 0.1899 |
| 164656 | TMPRSS6 | PTC05 | Human | Thyroid | PTC | 7.16e-14 | 5.96e-01 | 0.2065 |
| 164656 | TMPRSS6 | PTC06 | Human | Thyroid | PTC | 6.32e-23 | 6.96e-01 | 0.2057 |
| 164656 | TMPRSS6 | PTC07 | Human | Thyroid | PTC | 1.20e-21 | 5.03e-01 | 0.2044 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
| GO:00336197 | Thyroid | PTC | membrane protein proteolysis | 36/5968 | 57/18723 | 1.16e-06 | 1.69e-05 | 36 |
| GO:00301986 | Thyroid | PTC | extracellular matrix organization | 124/5968 | 301/18723 | 3.75e-04 | 2.53e-03 | 124 |
| GO:00430626 | Thyroid | PTC | extracellular structure organization | 124/5968 | 302/18723 | 4.38e-04 | 2.92e-03 | 124 |
| GO:00452296 | Thyroid | PTC | external encapsulating structure organization | 124/5968 | 304/18723 | 5.96e-04 | 3.79e-03 | 124 |
| GO:0055076110 | Thyroid | PTC | transition metal ion homeostasis | 62/5968 | 138/18723 | 8.66e-04 | 5.30e-03 | 62 |
| GO:005507210 | Thyroid | PTC | iron ion homeostasis | 39/5968 | 85/18723 | 4.71e-03 | 2.21e-02 | 39 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| TMPRSS6 | SNV | Missense_Mutation | c.1360N>A | p.Leu454Ile | p.L454I | Q8IU80 | protein_coding | deleterious(0.01) | possibly_damaging(0.71) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| TMPRSS6 | SNV | Missense_Mutation | novel | c.950N>T | p.Ser317Phe | p.S317F | Q8IU80 | protein_coding | deleterious(0.05) | probably_damaging(0.914) | TCGA-AR-A2LK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | anastrozole | PD |
| TMPRSS6 | SNV | Missense_Mutation | c.899N>T | p.Ala300Val | p.A300V | Q8IU80 | protein_coding | tolerated(0.09) | benign(0.127) | TCGA-D8-A27L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin+cuclophosphamide | SD | |
| TMPRSS6 | SNV | Missense_Mutation | novel | c.683G>A | p.Gly228Glu | p.G228E | Q8IU80 | protein_coding | deleterious(0.01) | probably_damaging(0.993) | TCGA-PL-A8LZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
| TMPRSS6 | insertion | Frame_Shift_Ins | novel | c.605_606insTG | p.Ile203AlafsTer2 | p.I203Afs*2 | Q8IU80 | protein_coding | TCGA-AO-A0JE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
| TMPRSS6 | insertion | Nonsense_Mutation | novel | c.604_605insTACAGTTTTCAAAGAGGTGAAATC | p.Asp202delinsValGlnPheSerLysArgTerAsnHis | p.D202delinsVQFSKR*NH | Q8IU80 | protein_coding | TCGA-AO-A0JE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
| TMPRSS6 | deletion | Frame_Shift_Del | novel | c.445delA | p.Ile149SerfsTer7 | p.I149Sfs*7 | Q8IU80 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
| TMPRSS6 | SNV | Missense_Mutation | c.915N>C | p.Lys305Asn | p.K305N | Q8IU80 | protein_coding | deleterious(0.01) | probably_damaging(0.943) | TCGA-LP-A4AW-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| TMPRSS6 | SNV | Missense_Mutation | rs771131901 | c.1211N>A | p.Arg404His | p.R404H | Q8IU80 | protein_coding | deleterious(0) | probably_damaging(0.917) | TCGA-UC-A7PF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| TMPRSS6 | SNV | Missense_Mutation | c.202G>T | p.Gly68Trp | p.G68W | Q8IU80 | protein_coding | deleterious(0.01) | probably_damaging(0.969) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 164656 | TMPRSS6 | PROTEASE, DRUGGABLE GENOME, ENZYME | inhibitor | 252166825 |
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