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Gene: ERCC2 |
Gene summary for ERCC2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ERCC2 | Gene ID | 2068 |
| Gene name | ERCC excision repair 2, TFIIH core complex helicase subunit | |
| Gene Alias | COFS2 | |
| Cytomap | 19q13.32 | |
| Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | P18074 |
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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 |
| 2068 | ERCC2 | LZE8T | Human | Esophagus | ESCC | 4.41e-02 | 9.07e-02 | 0.067 |
| 2068 | ERCC2 | LZE24T | Human | Esophagus | ESCC | 1.28e-07 | 1.80e-01 | 0.0596 |
| 2068 | ERCC2 | P1T-E | Human | Esophagus | ESCC | 2.97e-02 | 1.65e-01 | 0.0875 |
| 2068 | ERCC2 | P2T-E | Human | Esophagus | ESCC | 6.04e-14 | 1.70e-01 | 0.1177 |
| 2068 | ERCC2 | P4T-E | Human | Esophagus | ESCC | 5.16e-10 | 2.23e-01 | 0.1323 |
| 2068 | ERCC2 | P5T-E | Human | Esophagus | ESCC | 1.11e-07 | 1.04e-01 | 0.1327 |
| 2068 | ERCC2 | P8T-E | Human | Esophagus | ESCC | 1.94e-17 | 3.16e-01 | 0.0889 |
| 2068 | ERCC2 | P10T-E | Human | Esophagus | ESCC | 4.44e-27 | 4.86e-01 | 0.116 |
| 2068 | ERCC2 | P11T-E | Human | Esophagus | ESCC | 4.74e-03 | 1.28e-01 | 0.1426 |
| 2068 | ERCC2 | P12T-E | Human | Esophagus | ESCC | 6.35e-22 | 4.06e-01 | 0.1122 |
| 2068 | ERCC2 | P15T-E | Human | Esophagus | ESCC | 2.31e-15 | 2.65e-01 | 0.1149 |
| 2068 | ERCC2 | P16T-E | Human | Esophagus | ESCC | 1.88e-13 | 1.42e-01 | 0.1153 |
| 2068 | ERCC2 | P17T-E | Human | Esophagus | ESCC | 8.50e-05 | 1.87e-01 | 0.1278 |
| 2068 | ERCC2 | P20T-E | Human | Esophagus | ESCC | 3.97e-02 | 6.93e-02 | 0.1124 |
| 2068 | ERCC2 | P21T-E | Human | Esophagus | ESCC | 1.85e-03 | 8.19e-02 | 0.1617 |
| 2068 | ERCC2 | P22T-E | Human | Esophagus | ESCC | 3.66e-12 | 1.30e-01 | 0.1236 |
| 2068 | ERCC2 | P23T-E | Human | Esophagus | ESCC | 2.24e-15 | 3.44e-01 | 0.108 |
| 2068 | ERCC2 | P24T-E | Human | Esophagus | ESCC | 1.14e-08 | 9.37e-02 | 0.1287 |
| 2068 | ERCC2 | P26T-E | Human | Esophagus | ESCC | 1.40e-10 | 1.75e-01 | 0.1276 |
| 2068 | ERCC2 | P27T-E | Human | Esophagus | ESCC | 2.18e-18 | 2.63e-01 | 0.1055 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
| GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
| GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
| GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
| GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
| GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
| GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
| GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
| GO:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
| GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
| GO:0042274111 | Esophagus | ESCC | ribosomal small subunit biogenesis | 67/8552 | 73/18723 | 6.62e-17 | 5.38e-15 | 67 |
| GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
| GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
| GO:000941113 | Esophagus | ESCC | response to UV | 115/8552 | 149/18723 | 3.29e-15 | 1.93e-13 | 115 |
| GO:000635414 | Esophagus | ESCC | DNA-templated transcription, elongation | 76/8552 | 91/18723 | 8.35e-14 | 4.11e-12 | 76 |
| GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
| GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
| GO:0051099111 | Esophagus | ESCC | positive regulation of binding | 122/8552 | 173/18723 | 2.79e-11 | 9.45e-10 | 122 |
| GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
| GO:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0342022 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
| hsa030222 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
| hsa0342032 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
| hsa0302211 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
| hsa034204 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
| hsa03022 | Oral cavity | OSCC | Basal transcription factors | 28/3704 | 45/8465 | 9.53e-03 | 2.11e-02 | 1.08e-02 | 28 |
| hsa0342011 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
| hsa030221 | Oral cavity | OSCC | Basal transcription factors | 28/3704 | 45/8465 | 9.53e-03 | 2.11e-02 | 1.08e-02 | 28 |
| hsa0342021 | Oral cavity | LP | Nucleotide excision repair | 37/2418 | 63/8465 | 5.14e-07 | 6.33e-06 | 4.08e-06 | 37 |
| hsa0342031 | Oral cavity | LP | Nucleotide excision repair | 37/2418 | 63/8465 | 5.14e-07 | 6.33e-06 | 4.08e-06 | 37 |
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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 |
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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 |
| ERCC2 | SNV | Missense_Mutation | c.560A>G | p.Gln187Arg | p.Q187R | P18074 | protein_coding | tolerated(0.49) | benign(0) | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
| ERCC2 | SNV | Missense_Mutation | novel | c.119N>A | p.Leu40Gln | p.L40Q | P18074 | protein_coding | deleterious(0) | possibly_damaging(0.834) | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| ERCC2 | insertion | Frame_Shift_Ins | novel | c.116_117insACACGTCGGTAATGCCAATCGCTTGTAC | p.Leu40HisfsTer51 | p.L40Hfs*51 | P18074 | protein_coding | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| ERCC2 | SNV | Missense_Mutation | c.816N>C | p.Arg272Ser | p.R272S | P18074 | protein_coding | tolerated(0.22) | benign(0.015) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ERCC2 | SNV | Missense_Mutation | novel | c.2189N>T | p.Arg730Leu | p.R730L | P18074 | protein_coding | tolerated(0.19) | benign(0.015) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ERCC2 | SNV | Missense_Mutation | rs779040262 | c.1765N>A | p.Glu589Lys | p.E589K | P18074 | protein_coding | deleterious(0.01) | benign(0.096) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
| ERCC2 | SNV | Missense_Mutation | rs757432268 | c.1490N>A | p.Arg497His | p.R497H | P18074 | protein_coding | deleterious(0.01) | benign(0.031) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ERCC2 | SNV | Missense_Mutation | novel | c.1384T>C | p.Ser462Pro | p.S462P | P18074 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ERCC2 | SNV | Missense_Mutation | rs747684939 | c.353N>G | p.His118Arg | p.H118R | P18074 | protein_coding | deleterious(0) | possibly_damaging(0.71) | TCGA-AA-A02W-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| ERCC2 | SNV | Missense_Mutation | c.1781N>A | p.Ala594Asp | p.A594D | P18074 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AM-5821-01 | 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 |
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | CARBOPLATIN | CARBOPLATIN | 19470925 | |
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | CISPLATIN | CISPLATIN | 19434073 | |
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | bleomycin | BLEOMYCIN | ||
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | gemcitabine | GEMCITABINE | ||
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | Cisplatin | CISPLATIN | ||
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | PACLITAXEL | PACLITAXEL | 19470925 | |
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | leucovorin | LEUCOVORIN | 18267032,20385995,20078613 | |
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | CISPLATIN | CISPLATIN | 12839662 | |
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | docetaxel | DOCETAXEL | 25495407 | |
| 2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | platinum | PLATINUM | 19434073,22188361,29662106,22026922,21449681 |
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