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Gene: ERCC2 |
Gene summary for ERCC2 |
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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 |
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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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∗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: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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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 |
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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 |
ERCC2 | SNV | Missense_Mutation | c.1601G>A | p.Gly534Asp | p.G534D | P18074 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-44-7670-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | |
ERCC2 | SNV | Missense_Mutation | novel | c.722N>T | p.Asn241Ile | p.N241I | P18074 | protein_coding | deleterious(0) | probably_damaging(0.958) | TCGA-64-5781-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
ERCC2 | SNV | Missense_Mutation | c.1353N>A | p.Phe451Leu | p.F451L | P18074 | protein_coding | deleterious(0) | benign(0.111) | TCGA-67-3772-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ERCC2 | SNV | Missense_Mutation | novel | c.233N>G | p.Pro78Arg | p.P78R | P18074 | protein_coding | deleterious(0) | possibly_damaging(0.571) | TCGA-22-1000-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ERCC2 | SNV | Missense_Mutation | novel | c.550G>T | p.Gly184Trp | p.G184W | P18074 | protein_coding | deleterious(0) | possibly_damaging(0.852) | TCGA-37-3792-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.1534N>A | p.Glu512Lys | p.E512K | P18074 | protein_coding | tolerated(0.19) | benign(0.001) | TCGA-56-7221-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.1816N>A | p.Glu606Lys | p.E606K | P18074 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-63-A5MR-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.211A>G | p.Ile71Val | p.I71V | P18074 | protein_coding | tolerated(0.42) | benign(0.012) | TCGA-77-8140-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | rs763610846 | c.2131N>A | p.Asp711Asn | p.D711N | P18074 | protein_coding | deleterious(0) | probably_damaging(0.917) | TCGA-90-A4ED-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | c.554N>T | p.Arg185Leu | p.R185L | P18074 | protein_coding | tolerated(0.12) | benign(0.023) | TCGA-96-7544-01 | Lung | lung squamous cell carcinoma | Male | >=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 |
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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