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Gene: GEN1 |
Gene summary for GEN1 |
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Gene information | Species | Human | Gene symbol | GEN1 | Gene ID | 348654 |
Gene name | GEN1 Holliday junction 5' flap endonuclease | |
Gene Alias | Gen | |
Cytomap | 2p24.2 | |
Gene Type | protein-coding | GO ID | GO:0000070 | UniProtAcc | Q17RS7 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
348654 | GEN1 | CCI_1 | Human | Cervix | CC | 7.76e-03 | 3.80e-01 | 0.528 |
348654 | GEN1 | CCI_2 | Human | Cervix | CC | 1.23e-07 | 7.40e-01 | 0.5249 |
348654 | GEN1 | CCI_3 | Human | Cervix | CC | 3.95e-07 | 5.45e-01 | 0.516 |
348654 | GEN1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.68e-13 | -5.15e-01 | 0.0155 |
348654 | GEN1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.35e-06 | -5.03e-01 | -0.1808 |
348654 | GEN1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.56e-03 | -4.78e-01 | -0.0811 |
348654 | GEN1 | HTA11_78_2000001011 | Human | Colorectum | AD | 3.42e-05 | -4.61e-01 | -0.1088 |
348654 | GEN1 | HTA11_347_2000001011 | Human | Colorectum | AD | 3.53e-09 | -4.68e-01 | -0.1954 |
348654 | GEN1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.49e-04 | -5.05e-01 | -0.1207 |
348654 | GEN1 | HTA11_83_2000001011 | Human | Colorectum | SER | 1.78e-04 | -5.28e-01 | -0.1526 |
348654 | GEN1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.04e-18 | -5.13e-01 | -0.1464 |
348654 | GEN1 | HTA11_866_2000001011 | Human | Colorectum | AD | 5.63e-18 | -5.11e-01 | -0.1001 |
348654 | GEN1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.11e-05 | -4.46e-01 | -0.059 |
348654 | GEN1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.88e-02 | -5.43e-01 | -0.1706 |
348654 | GEN1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 4.23e-03 | -5.43e-01 | -0.2061 |
348654 | GEN1 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.80e-03 | -5.25e-01 | -0.0842 |
348654 | GEN1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 2.35e-04 | -5.43e-01 | -0.0179 |
348654 | GEN1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.17e-11 | -5.17e-01 | 0.096 |
348654 | GEN1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 5.47e-08 | -5.32e-01 | 0.0338 |
348654 | GEN1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.08e-20 | -5.23e-01 | 0.0674 |
Page: 1 2 3 4 |
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∗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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0090305 | Liver | HCC | nucleic acid phosphodiester bond hydrolysis | 152/7958 | 261/18723 | 1.90e-07 | 3.46e-06 | 152 |
GO:19019901 | Liver | HCC | regulation of mitotic cell cycle phase transition | 167/7958 | 299/18723 | 1.96e-06 | 2.71e-05 | 167 |
GO:19019871 | Liver | HCC | regulation of cell cycle phase transition | 211/7958 | 390/18723 | 2.11e-06 | 2.89e-05 | 211 |
GO:0098813 | Liver | HCC | nuclear chromosome segregation | 157/7958 | 281/18723 | 3.82e-06 | 4.95e-05 | 157 |
GO:004578711 | Liver | HCC | positive regulation of cell cycle | 172/7958 | 313/18723 | 5.29e-06 | 6.58e-05 | 172 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:00000751 | Liver | HCC | cell cycle checkpoint | 100/7958 | 169/18723 | 8.75e-06 | 1.02e-04 | 100 |
GO:0048285 | Liver | HCC | organelle fission | 254/7958 | 488/18723 | 1.07e-05 | 1.23e-04 | 254 |
GO:0045786 | Liver | HCC | negative regulation of cell cycle | 204/7958 | 385/18723 | 1.84e-05 | 1.99e-04 | 204 |
GO:0045930 | Liver | HCC | negative regulation of mitotic cell cycle | 130/7958 | 235/18723 | 4.69e-05 | 4.50e-04 | 130 |
GO:2001251 | Liver | HCC | negative regulation of chromosome organization | 55/7958 | 86/18723 | 4.80e-05 | 4.60e-04 | 55 |
GO:0007091 | Liver | HCC | metaphase/anaphase transition of mitotic cell cycle | 42/7958 | 62/18723 | 5.18e-05 | 4.93e-04 | 42 |
GO:0007093 | Liver | HCC | mitotic cell cycle checkpoint | 77/7958 | 129/18723 | 6.00e-05 | 5.50e-04 | 77 |
GO:1905818 | Liver | HCC | regulation of chromosome separation | 47/7958 | 72/18723 | 7.95e-05 | 7.07e-04 | 47 |
GO:0051983 | Liver | HCC | regulation of chromosome segregation | 57/7958 | 91/18723 | 8.35e-05 | 7.36e-04 | 57 |
GO:0010965 | Liver | HCC | regulation of mitotic sister chromatid separation | 43/7958 | 65/18723 | 9.99e-05 | 8.60e-04 | 43 |
GO:0051306 | Liver | HCC | mitotic sister chromatid separation | 44/7958 | 67/18723 | 1.08e-04 | 9.22e-04 | 44 |
GO:0030071 | Liver | HCC | regulation of mitotic metaphase/anaphase transition | 40/7958 | 60/18723 | 1.34e-04 | 1.10e-03 | 40 |
GO:0033045 | Liver | HCC | regulation of sister chromatid segregation | 46/7958 | 72/18723 | 2.02e-04 | 1.56e-03 | 46 |
GO:0031023 | Liver | HCC | microtubule organizing center organization | 82/7958 | 143/18723 | 2.38e-04 | 1.79e-03 | 82 |
Page: 1 2 3 4 5 6 7 8 9 |
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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 |
GEN1 | SNV | Missense_Mutation | novel | c.147N>A | p.Met49Ile | p.M49I | Q17RS7 | protein_coding | tolerated(0.47) | benign(0.02) | TCGA-A2-A3XX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
GEN1 | SNV | Missense_Mutation | c.1324N>C | p.Glu442Gln | p.E442Q | Q17RS7 | protein_coding | deleterious(0.03) | benign(0.021) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
GEN1 | SNV | Missense_Mutation | rs748104572 | c.275C>T | p.Ser92Phe | p.S92F | Q17RS7 | protein_coding | deleterious(0.01) | benign(0.021) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GEN1 | SNV | Missense_Mutation | novel | c.629T>G | p.Leu210Arg | p.L210R | Q17RS7 | protein_coding | deleterious(0) | possibly_damaging(0.898) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GEN1 | SNV | Missense_Mutation | c.2405N>G | p.Ser802Cys | p.S802C | Q17RS7 | protein_coding | deleterious(0) | probably_damaging(0.909) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
GEN1 | SNV | Missense_Mutation | c.2486C>T | p.Ser829Leu | p.S829L | Q17RS7 | protein_coding | tolerated(0.6) | benign(0) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
GEN1 | deletion | Frame_Shift_Del | novel | c.2138_2180delNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | p.Asp714CysfsTer11 | p.D714Cfs*11 | Q17RS7 | protein_coding | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | ||
GEN1 | SNV | Missense_Mutation | c.797N>G | p.His266Arg | p.H266R | Q17RS7 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD | |
GEN1 | SNV | Missense_Mutation | novel | c.170T>A | p.Phe57Tyr | p.F57Y | Q17RS7 | protein_coding | tolerated(0.05) | possibly_damaging(0.899) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GEN1 | SNV | Missense_Mutation | novel | c.1948G>A | p.Asp650Asn | p.D650N | Q17RS7 | protein_coding | tolerated(0.24) | benign(0.011) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | 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 |
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