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Gene: ERCC4 |
Gene summary for ERCC4 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ERCC4 | Gene ID | 2072 |
| Gene name | ERCC excision repair 4, endonuclease catalytic subunit | |
| Gene Alias | ERCC11 | |
| Cytomap | 16p13.12 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A1W1GSK9 |
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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 |
| 2072 | ERCC4 | LZE2T | Human | Esophagus | ESCC | 4.73e-03 | 4.06e-01 | 0.082 |
| 2072 | ERCC4 | LZE4T | Human | Esophagus | ESCC | 2.35e-12 | 2.90e-01 | 0.0811 |
| 2072 | ERCC4 | LZE7T | Human | Esophagus | ESCC | 6.13e-07 | 2.92e-01 | 0.0667 |
| 2072 | ERCC4 | LZE24T | Human | Esophagus | ESCC | 7.65e-05 | 1.48e-01 | 0.0596 |
| 2072 | ERCC4 | P2T-E | Human | Esophagus | ESCC | 4.46e-24 | 4.37e-01 | 0.1177 |
| 2072 | ERCC4 | P4T-E | Human | Esophagus | ESCC | 7.21e-12 | 2.51e-01 | 0.1323 |
| 2072 | ERCC4 | P5T-E | Human | Esophagus | ESCC | 4.55e-08 | 1.79e-01 | 0.1327 |
| 2072 | ERCC4 | P8T-E | Human | Esophagus | ESCC | 6.70e-07 | 1.55e-01 | 0.0889 |
| 2072 | ERCC4 | P10T-E | Human | Esophagus | ESCC | 4.42e-08 | 1.59e-01 | 0.116 |
| 2072 | ERCC4 | P11T-E | Human | Esophagus | ESCC | 2.06e-07 | 2.28e-01 | 0.1426 |
| 2072 | ERCC4 | P12T-E | Human | Esophagus | ESCC | 2.29e-25 | 4.35e-01 | 0.1122 |
| 2072 | ERCC4 | P15T-E | Human | Esophagus | ESCC | 4.01e-11 | 2.27e-01 | 0.1149 |
| 2072 | ERCC4 | P16T-E | Human | Esophagus | ESCC | 4.13e-17 | 3.68e-01 | 0.1153 |
| 2072 | ERCC4 | P19T-E | Human | Esophagus | ESCC | 7.48e-03 | 2.41e-01 | 0.1662 |
| 2072 | ERCC4 | P20T-E | Human | Esophagus | ESCC | 1.09e-25 | 5.09e-01 | 0.1124 |
| 2072 | ERCC4 | P21T-E | Human | Esophagus | ESCC | 1.94e-08 | 2.07e-01 | 0.1617 |
| 2072 | ERCC4 | P22T-E | Human | Esophagus | ESCC | 2.85e-20 | 3.34e-01 | 0.1236 |
| 2072 | ERCC4 | P23T-E | Human | Esophagus | ESCC | 2.13e-09 | 2.33e-01 | 0.108 |
| 2072 | ERCC4 | P24T-E | Human | Esophagus | ESCC | 5.63e-17 | 1.92e-01 | 0.1287 |
| 2072 | ERCC4 | P26T-E | Human | Esophagus | ESCC | 1.74e-08 | 1.74e-01 | 0.1276 |
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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 |
| ∗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:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
| GO:003304416 | Esophagus | ESCC | regulation of chromosome organization | 145/8552 | 187/18723 | 3.80e-19 | 4.31e-17 | 145 |
| GO:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
| GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
| GO:000941113 | Esophagus | ESCC | response to UV | 115/8552 | 149/18723 | 3.29e-15 | 1.93e-13 | 115 |
| GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
| GO:00482853 | Esophagus | ESCC | organelle fission | 301/8552 | 488/18723 | 4.64e-13 | 2.12e-11 | 301 |
| GO:00988133 | Esophagus | ESCC | nuclear chromosome segregation | 187/8552 | 281/18723 | 1.00e-12 | 4.36e-11 | 187 |
| GO:000072319 | Esophagus | ESCC | telomere maintenance | 99/8552 | 131/18723 | 2.68e-12 | 1.08e-10 | 99 |
| GO:00002802 | Esophagus | ESCC | nuclear division | 270/8552 | 439/18723 | 1.17e-11 | 4.24e-10 | 270 |
| GO:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
| GO:003220417 | Esophagus | ESCC | regulation of telomere maintenance | 65/8552 | 80/18723 | 6.02e-11 | 1.90e-09 | 65 |
| GO:003464413 | Esophagus | ESCC | cellular response to UV | 70/8552 | 90/18723 | 4.59e-10 | 1.20e-08 | 70 |
| GO:2001020110 | Esophagus | ESCC | regulation of response to DNA damage stimulus | 145/8552 | 219/18723 | 5.97e-10 | 1.50e-08 | 145 |
| GO:007121419 | Esophagus | ESCC | cellular response to abiotic stimulus | 206/8552 | 331/18723 | 7.52e-10 | 1.88e-08 | 206 |
| GO:010400419 | Esophagus | ESCC | cellular response to environmental stimulus | 206/8552 | 331/18723 | 7.52e-10 | 1.88e-08 | 206 |
| GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
| GO:0051101111 | Esophagus | ESCC | regulation of DNA binding | 84/8552 | 118/18723 | 1.64e-08 | 3.21e-07 | 84 |
| GO:0051100111 | Esophagus | ESCC | negative regulation of binding | 109/8552 | 162/18723 | 2.10e-08 | 4.03e-07 | 109 |
| GO:00903053 | Esophagus | ESCC | nucleic acid phosphodiester bond hydrolysis | 163/8552 | 261/18723 | 3.07e-08 | 5.73e-07 | 163 |
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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 |
| hsa0342032 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
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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 |
| ERCC4 | SNV | Missense_Mutation | c.1075N>A | p.Glu359Lys | p.E359K | Q92889 | protein_coding | tolerated(0.2) | benign(0.152) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD | |
| ERCC4 | SNV | Missense_Mutation | novel | c.1738C>A | p.Leu580Ile | p.L580I | Q92889 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ERCC4 | SNV | Missense_Mutation | c.2401C>A | p.Leu801Ile | p.L801I | Q92889 | protein_coding | tolerated(0.21) | benign(0.42) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ERCC4 | SNV | Missense_Mutation | rs147105770 | c.1765N>T | p.Arg589Trp | p.R589W | Q92889 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0RX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
| ERCC4 | SNV | Missense_Mutation | rs373570729 | c.799N>T | p.Arg267Cys | p.R267C | Q92889 | protein_coding | deleterious(0.01) | benign(0.014) | TCGA-D8-A1JC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
| ERCC4 | SNV | Missense_Mutation | novel | c.2083N>T | p.Leu695Phe | p.L695F | Q92889 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EW-A6SA-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| ERCC4 | SNV | Missense_Mutation | c.1621N>C | p.Asp541His | p.D541H | Q92889 | protein_coding | deleterious(0.01) | probably_damaging(0.953) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD | |
| ERCC4 | SNV | Missense_Mutation | rs753728949 | c.1019N>A | p.Arg340Gln | p.R340Q | Q92889 | protein_coding | deleterious(0.01) | possibly_damaging(0.895) | TCGA-EK-A2RO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| ERCC4 | SNV | Missense_Mutation | c.208N>A | p.Glu70Lys | p.E70K | Q92889 | protein_coding | tolerated(0.11) | benign(0.341) | TCGA-EK-A3GM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ERCC4 | SNV | Missense_Mutation | c.1262G>A | p.Arg421Lys | p.R421K | Q92889 | protein_coding | tolerated(0.66) | benign(0) | TCGA-FU-A3HY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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 |
| 2072 | ERCC4 | CLINICALLY ACTIONABLE, DNA REPAIR | Platinum compounds | 25069034 |
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