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Gene: ERCC1 |
Gene summary for ERCC1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ERCC1 | Gene ID | 2067 |
| Gene name | ERCC excision repair 1, endonuclease non-catalytic subunit | |
| Gene Alias | COFS4 | |
| Cytomap | 19q13.32 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P07992 |
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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 |
| 2067 | ERCC1 | LZE4T | Human | Esophagus | ESCC | 5.95e-14 | 5.18e-01 | 0.0811 |
| 2067 | ERCC1 | LZE8T | Human | Esophagus | ESCC | 1.67e-03 | 2.19e-01 | 0.067 |
| 2067 | ERCC1 | LZE20T | Human | Esophagus | ESCC | 5.07e-03 | 2.42e-02 | 0.0662 |
| 2067 | ERCC1 | LZE22T | Human | Esophagus | ESCC | 4.14e-04 | 5.52e-01 | 0.068 |
| 2067 | ERCC1 | LZE24T | Human | Esophagus | ESCC | 3.36e-21 | 7.87e-01 | 0.0596 |
| 2067 | ERCC1 | LZE22D3 | Human | Esophagus | HGIN | 1.64e-02 | 3.09e-01 | 0.0653 |
| 2067 | ERCC1 | LZE21T | Human | Esophagus | ESCC | 4.93e-06 | 3.23e-01 | 0.0655 |
| 2067 | ERCC1 | LZE6T | Human | Esophagus | ESCC | 1.16e-12 | 6.20e-01 | 0.0845 |
| 2067 | ERCC1 | P1T-E | Human | Esophagus | ESCC | 4.09e-07 | 5.19e-01 | 0.0875 |
| 2067 | ERCC1 | P2T-E | Human | Esophagus | ESCC | 9.73e-36 | 8.61e-01 | 0.1177 |
| 2067 | ERCC1 | P4T-E | Human | Esophagus | ESCC | 8.64e-33 | 8.50e-01 | 0.1323 |
| 2067 | ERCC1 | P5T-E | Human | Esophagus | ESCC | 2.64e-38 | 6.83e-01 | 0.1327 |
| 2067 | ERCC1 | P8T-E | Human | Esophagus | ESCC | 9.72e-40 | 8.30e-01 | 0.0889 |
| 2067 | ERCC1 | P9T-E | Human | Esophagus | ESCC | 1.10e-29 | 6.66e-01 | 0.1131 |
| 2067 | ERCC1 | P10T-E | Human | Esophagus | ESCC | 6.71e-88 | 1.60e+00 | 0.116 |
| 2067 | ERCC1 | P11T-E | Human | Esophagus | ESCC | 4.60e-15 | 7.51e-01 | 0.1426 |
| 2067 | ERCC1 | P12T-E | Human | Esophagus | ESCC | 1.04e-34 | 6.80e-01 | 0.1122 |
| 2067 | ERCC1 | P15T-E | Human | Esophagus | ESCC | 1.74e-49 | 1.10e+00 | 0.1149 |
| 2067 | ERCC1 | P16T-E | Human | Esophagus | ESCC | 5.10e-39 | 6.69e-01 | 0.1153 |
| 2067 | ERCC1 | P17T-E | Human | Esophagus | ESCC | 2.06e-09 | 7.38e-01 | 0.1278 |
| Page: 1 2 3 4 5 6 7 |
| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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:003166720 | Oral cavity | OSCC | response to nutrient levels | 245/7305 | 474/18723 | 1.02e-08 | 2.10e-07 | 245 |
| GO:00714788 | Oral cavity | OSCC | cellular response to radiation | 109/7305 | 186/18723 | 4.54e-08 | 8.45e-07 | 109 |
| GO:003220410 | Oral cavity | OSCC | regulation of telomere maintenance | 55/7305 | 80/18723 | 6.67e-08 | 1.19e-06 | 55 |
| GO:00903052 | Oral cavity | OSCC | nucleic acid phosphodiester bond hydrolysis | 142/7305 | 261/18723 | 2.90e-07 | 4.43e-06 | 142 |
| GO:006145817 | Oral cavity | OSCC | reproductive system development | 217/7305 | 427/18723 | 3.75e-07 | 5.63e-06 | 217 |
| GO:004860816 | Oral cavity | OSCC | reproductive structure development | 214/7305 | 424/18723 | 8.58e-07 | 1.18e-05 | 214 |
| GO:004668616 | Oral cavity | OSCC | response to cadmium ion | 46/7305 | 68/18723 | 1.61e-06 | 2.11e-05 | 46 |
| GO:001003820 | Oral cavity | OSCC | response to metal ion | 188/7305 | 373/18723 | 4.34e-06 | 5.00e-05 | 188 |
| GO:00097918 | Oral cavity | OSCC | post-embryonic development | 51/7305 | 80/18723 | 6.43e-06 | 7.13e-05 | 51 |
| GO:200125216 | Oral cavity | OSCC | positive regulation of chromosome organization | 52/7305 | 82/18723 | 6.56e-06 | 7.24e-05 | 52 |
| GO:00063023 | Oral cavity | OSCC | double-strand break repair | 132/7305 | 251/18723 | 7.93e-06 | 8.52e-05 | 132 |
| GO:00075849 | Oral cavity | OSCC | response to nutrient | 95/7305 | 174/18723 | 2.09e-05 | 1.99e-04 | 95 |
| GO:00063522 | Oral cavity | OSCC | DNA-templated transcription, initiation | 74/7305 | 130/18723 | 2.56e-05 | 2.39e-04 | 74 |
| GO:20012512 | Oral cavity | OSCC | negative regulation of chromosome organization | 52/7305 | 86/18723 | 4.50e-05 | 3.84e-04 | 52 |
| GO:00094164 | Oral cavity | OSCC | response to light stimulus | 159/7305 | 320/18723 | 5.98e-05 | 4.92e-04 | 159 |
| GO:20010213 | Oral cavity | OSCC | negative regulation of response to DNA damage stimulus | 49/7305 | 81/18723 | 7.27e-05 | 5.72e-04 | 49 |
| GO:00075698 | Oral cavity | OSCC | cell aging | 73/7305 | 132/18723 | 1.05e-04 | 7.75e-04 | 73 |
| GO:003220615 | Oral cavity | OSCC | positive regulation of telomere maintenance | 34/7305 | 52/18723 | 1.05e-04 | 7.81e-04 | 34 |
| GO:000974320 | Oral cavity | OSCC | response to carbohydrate | 128/7305 | 253/18723 | 1.11e-04 | 8.16e-04 | 128 |
| GO:00322006 | Oral cavity | OSCC | telomere organization | 85/7305 | 159/18723 | 1.47e-04 | 1.04e-03 | 85 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa034205 | Esophagus | HGIN | Nucleotide excision repair | 29/1383 | 63/8465 | 2.96e-08 | 5.36e-07 | 4.26e-07 | 29 |
| hsa0342012 | Esophagus | HGIN | Nucleotide excision repair | 29/1383 | 63/8465 | 2.96e-08 | 5.36e-07 | 4.26e-07 | 29 |
| hsa0342022 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
| hsa015247 | Esophagus | ESCC | Platinum drug resistance | 56/4205 | 73/8465 | 1.85e-06 | 1.13e-05 | 5.78e-06 | 56 |
| hsa0342032 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
| hsa0152414 | Esophagus | ESCC | Platinum drug resistance | 56/4205 | 73/8465 | 1.85e-06 | 1.13e-05 | 5.78e-06 | 56 |
| hsa015244 | Liver | Cirrhotic | Platinum drug resistance | 34/2530 | 73/8465 | 1.86e-03 | 8.37e-03 | 5.16e-03 | 34 |
| hsa03420 | Liver | Cirrhotic | Nucleotide excision repair | 29/2530 | 63/8465 | 4.81e-03 | 1.74e-02 | 1.07e-02 | 29 |
| hsa0152411 | Liver | Cirrhotic | Platinum drug resistance | 34/2530 | 73/8465 | 1.86e-03 | 8.37e-03 | 5.16e-03 | 34 |
| hsa034201 | Liver | Cirrhotic | Nucleotide excision repair | 29/2530 | 63/8465 | 4.81e-03 | 1.74e-02 | 1.07e-02 | 29 |
| hsa015242 | Liver | HCC | Platinum drug resistance | 52/4020 | 73/8465 | 3.14e-05 | 1.88e-04 | 1.04e-04 | 52 |
| hsa034202 | Liver | HCC | Nucleotide excision repair | 41/4020 | 63/8465 | 3.59e-03 | 1.12e-02 | 6.22e-03 | 41 |
| hsa015243 | Liver | HCC | Platinum drug resistance | 52/4020 | 73/8465 | 3.14e-05 | 1.88e-04 | 1.04e-04 | 52 |
| hsa034203 | Liver | HCC | Nucleotide excision repair | 41/4020 | 63/8465 | 3.59e-03 | 1.12e-02 | 6.22e-03 | 41 |
| hsa034204 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
| hsa015246 | Oral cavity | OSCC | Platinum drug resistance | 51/3704 | 73/8465 | 5.41e-06 | 2.75e-05 | 1.40e-05 | 51 |
| hsa0342011 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
| hsa0152413 | Oral cavity | OSCC | Platinum drug resistance | 51/3704 | 73/8465 | 5.41e-06 | 2.75e-05 | 1.40e-05 | 51 |
| 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 |
| Page: 1 2 |
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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. |
| Page: 1 |
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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 |
| ERCC1 | SNV | Missense_Mutation | novel | c.533N>G | p.Pro178Arg | p.P178R | P07992 | protein_coding | tolerated(0.09) | probably_damaging(0.989) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| ERCC1 | SNV | Missense_Mutation | c.803G>T | p.Arg268Ile | p.R268I | P07992 | protein_coding | tolerated(0.06) | benign(0.325) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| ERCC1 | deletion | Frame_Shift_Del | novel | c.535delN | p.Gln179SerfsTer18 | p.Q179Sfs*18 | P07992 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| ERCC1 | SNV | Missense_Mutation | novel | c.811N>A | p.Leu271Met | p.L271M | P07992 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ERCC1 | SNV | Missense_Mutation | c.861N>T | p.Lys287Asn | p.K287N | P07992 | protein_coding | deleterious(0.01) | benign(0.022) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| ERCC1 | SNV | Missense_Mutation | novel | c.658G>A | p.Ala220Thr | p.A220T | P07992 | protein_coding | tolerated(0.06) | benign(0.223) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| ERCC1 | SNV | Missense_Mutation | c.853C>A | p.Leu285Met | p.L285M | P07992 | protein_coding | tolerated(0.09) | benign(0.125) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| ERCC1 | SNV | Missense_Mutation | rs772941786 | c.700N>T | p.Arg234Trp | p.R234W | P07992 | protein_coding | deleterious(0) | possibly_damaging(0.724) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
| ERCC1 | SNV | Missense_Mutation | rs374992813 | c.376N>A | p.Val126Ile | p.V126I | P07992 | protein_coding | tolerated(1) | benign(0.005) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ERCC1 | insertion | Frame_Shift_Ins | novel | c.68_69insAATTTGT | p.Pro25CysfsTer8 | p.P25Cfs*8 | P07992 | protein_coding | TCGA-D5-6898-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 |
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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 |
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | PACLITAXEL | PACLITAXEL | 17229776 | |
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | gemcitabine | GEMCITABINE | ||
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | palonosetron | PALONOSETRON | 29177570 | |
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | CISPLATIN | CISPLATIN | 11163512,9772291,10810335,9703867 | |
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | etoposide | ETOPOSIDE | ||
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | carboplatin | CARBOPLATIN | 19786980,22188361,18347182,21902499,25069034,21057378,29662106,19362955,27498158,21262916,22026922,22329723 | |
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | radiotherapy | 25026457,28796378 | ||
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | platinum | PLATINUM | 19786980,22188361,18347182,21902499,25069034,21057378,29662106,19362955,27498158,21262916,22026922,22329723 | |
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | thalidomide | THALIDOMIDE | 21435719 | |
| 2067 | ERCC1 | CLINICALLY ACTIONABLE, DNA REPAIR | doxorubicin | DOXORUBICIN |
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