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Gene: TEP1 |
Gene summary for TEP1 |
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Gene information | Species | Human | Gene symbol | TEP1 | Gene ID | 7011 |
Gene name | telomerase associated protein 1 | |
Gene Alias | TLP1 | |
Cytomap | 14q11.2 | |
Gene Type | protein-coding | GO ID | GO:0000722 | UniProtAcc | G3V5X7 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7011 | TEP1 | HCC1_Meng | Human | Liver | HCC | 5.51e-12 | 9.91e-03 | 0.0246 |
7011 | TEP1 | HCC2_Meng | Human | Liver | HCC | 3.49e-14 | 1.19e-01 | 0.0107 |
7011 | TEP1 | HCC1 | Human | Liver | HCC | 6.07e-13 | 1.25e+00 | 0.5336 |
7011 | TEP1 | HCC2 | Human | Liver | HCC | 2.99e-28 | 2.33e+00 | 0.5341 |
7011 | TEP1 | HCC5 | Human | Liver | HCC | 1.18e-16 | 9.99e-01 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000072311 | Liver | HCC | telomere maintenance | 85/7958 | 131/18723 | 1.86e-07 | 3.40e-06 | 85 |
GO:000627811 | Liver | HCC | RNA-dependent DNA biosynthetic process | 50/7958 | 75/18723 | 2.02e-05 | 2.17e-04 | 50 |
GO:00718975 | Liver | HCC | DNA biosynthetic process | 99/7958 | 180/18723 | 4.66e-04 | 3.08e-03 | 99 |
GO:00322001 | Liver | HCC | telomere organization | 86/7958 | 159/18723 | 2.06e-03 | 1.04e-02 | 86 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
TEP1 | SNV | Missense_Mutation | rs147598692 | c.1177C>T | p.Arg393Trp | p.R393W | Q99973 | protein_coding | deleterious(0) | possibly_damaging(0.765) | TCGA-BH-A1FD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TEP1 | SNV | Missense_Mutation | c.1147C>T | p.Arg383Trp | p.R383W | Q99973 | protein_coding | deleterious(0.03) | benign(0.156) | TCGA-BH-A1FU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
TEP1 | SNV | Missense_Mutation | novel | c.7751N>A | p.Ser2584Asn | p.S2584N | Q99973 | protein_coding | tolerated(0.1) | benign(0.036) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TEP1 | SNV | Missense_Mutation | novel | c.805N>C | p.Thr269Pro | p.T269P | Q99973 | protein_coding | deleterious(0.03) | benign(0.27) | TCGA-D8-A1Y1-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | PD |
TEP1 | SNV | Missense_Mutation | c.403C>G | p.His135Asp | p.H135D | Q99973 | protein_coding | tolerated_low_confidence(0.1) | benign(0) | TCGA-E9-A1R7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | fareston | SD | |
TEP1 | SNV | Missense_Mutation | novel | c.4145C>G | p.Ser1382Cys | p.S1382C | Q99973 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
TEP1 | SNV | Missense_Mutation | novel | c.3486N>T | p.Arg1162Ser | p.R1162S | Q99973 | protein_coding | tolerated(0.6) | benign(0.033) | TCGA-OL-A66J-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TEP1 | insertion | In_Frame_Ins | novel | c.4842_4843insGCTGAC | p.Ala1614_Ser1615insAlaAsp | p.A1614_S1615insAD | Q99973 | protein_coding | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
TEP1 | insertion | Nonsense_Mutation | novel | c.871-1_871insCAGAACCTACATTGTTAGGTTGTCATAAAGAT | p.Ala291GlnfsTer6 | p.A291Qfs*6 | Q99973 | protein_coding | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD | ||
TEP1 | insertion | Frame_Shift_Ins | novel | c.2907_2908insA | p.Val970SerfsTer19 | p.V970Sfs*19 | Q99973 | protein_coding | TCGA-BH-A0BR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
7011 | TEP1 | NA | V934/V935 |
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