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Gene: ERCC6L2 |
Gene summary for ERCC6L2 |
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Gene information | Species | Human | Gene symbol | ERCC6L2 | Gene ID | 375748 |
Gene name | ERCC excision repair 6 like 2 | |
Gene Alias | BMFS2 | |
Cytomap | 9q22.32 | |
Gene Type | protein-coding | GO ID | GO:0000302 | UniProtAcc | Q5T890 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
375748 | ERCC6L2 | LZE4T | Human | Esophagus | ESCC | 3.97e-04 | 1.55e-01 | 0.0811 |
375748 | ERCC6L2 | LZE7T | Human | Esophagus | ESCC | 2.20e-06 | 3.07e-01 | 0.0667 |
375748 | ERCC6L2 | LZE24T | Human | Esophagus | ESCC | 1.61e-12 | 2.83e-01 | 0.0596 |
375748 | ERCC6L2 | P1T-E | Human | Esophagus | ESCC | 1.09e-03 | 2.32e-01 | 0.0875 |
375748 | ERCC6L2 | P2T-E | Human | Esophagus | ESCC | 3.97e-31 | 5.98e-01 | 0.1177 |
375748 | ERCC6L2 | P4T-E | Human | Esophagus | ESCC | 1.84e-19 | 3.00e-01 | 0.1323 |
375748 | ERCC6L2 | P5T-E | Human | Esophagus | ESCC | 2.00e-05 | 1.12e-01 | 0.1327 |
375748 | ERCC6L2 | P8T-E | Human | Esophagus | ESCC | 1.38e-14 | 1.90e-01 | 0.0889 |
375748 | ERCC6L2 | P9T-E | Human | Esophagus | ESCC | 1.25e-13 | 1.81e-01 | 0.1131 |
375748 | ERCC6L2 | P10T-E | Human | Esophagus | ESCC | 1.42e-27 | 4.66e-01 | 0.116 |
375748 | ERCC6L2 | P11T-E | Human | Esophagus | ESCC | 7.44e-14 | 4.99e-01 | 0.1426 |
375748 | ERCC6L2 | P12T-E | Human | Esophagus | ESCC | 4.63e-21 | 3.56e-01 | 0.1122 |
375748 | ERCC6L2 | P15T-E | Human | Esophagus | ESCC | 1.38e-12 | 2.72e-01 | 0.1149 |
375748 | ERCC6L2 | P16T-E | Human | Esophagus | ESCC | 1.43e-24 | 3.49e-01 | 0.1153 |
375748 | ERCC6L2 | P17T-E | Human | Esophagus | ESCC | 1.66e-06 | 2.26e-01 | 0.1278 |
375748 | ERCC6L2 | P20T-E | Human | Esophagus | ESCC | 2.35e-09 | 1.74e-01 | 0.1124 |
375748 | ERCC6L2 | P21T-E | Human | Esophagus | ESCC | 4.10e-15 | 2.91e-01 | 0.1617 |
375748 | ERCC6L2 | P22T-E | Human | Esophagus | ESCC | 1.53e-11 | 1.86e-01 | 0.1236 |
375748 | ERCC6L2 | P23T-E | Human | Esophagus | ESCC | 4.34e-08 | 2.69e-01 | 0.108 |
375748 | ERCC6L2 | P24T-E | Human | Esophagus | ESCC | 3.85e-10 | 1.54e-01 | 0.1287 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:0062197111 | Esophagus | ESCC | cellular response to chemical stress | 234/8552 | 337/18723 | 5.37e-19 | 5.97e-17 | 234 |
GO:0034599111 | Esophagus | ESCC | cellular response to oxidative stress | 197/8552 | 288/18723 | 3.76e-15 | 2.15e-13 | 197 |
GO:0000302111 | Esophagus | ESCC | response to reactive oxygen species | 150/8552 | 222/18723 | 3.06e-11 | 1.02e-09 | 150 |
GO:003461420 | Esophagus | ESCC | cellular response to reactive oxygen species | 103/8552 | 155/18723 | 1.34e-07 | 2.17e-06 | 103 |
GO:00069797 | Liver | NAFLD | response to oxidative stress | 78/1882 | 446/18723 | 7.85e-07 | 4.29e-05 | 78 |
GO:00621977 | Liver | NAFLD | cellular response to chemical stress | 54/1882 | 337/18723 | 3.83e-04 | 5.73e-03 | 54 |
GO:00003027 | Liver | NAFLD | response to reactive oxygen species | 38/1882 | 222/18723 | 7.63e-04 | 9.63e-03 | 38 |
GO:00345997 | Liver | NAFLD | cellular response to oxidative stress | 46/1882 | 288/18723 | 1.07e-03 | 1.25e-02 | 46 |
GO:000697922 | Liver | HCC | response to oxidative stress | 281/7958 | 446/18723 | 9.75e-19 | 1.24e-16 | 281 |
GO:006219722 | Liver | HCC | cellular response to chemical stress | 216/7958 | 337/18723 | 6.86e-16 | 5.44e-14 | 216 |
GO:003459922 | Liver | HCC | cellular response to oxidative stress | 183/7958 | 288/18723 | 3.65e-13 | 1.93e-11 | 183 |
GO:000030222 | Liver | HCC | response to reactive oxygen species | 144/7958 | 222/18723 | 1.24e-11 | 5.09e-10 | 144 |
GO:003461412 | Liver | HCC | cellular response to reactive oxygen species | 102/7958 | 155/18723 | 3.70e-09 | 9.89e-08 | 102 |
GO:0006979113 | Thyroid | PTC | response to oxidative stress | 234/5968 | 446/18723 | 6.97e-20 | 9.77e-18 | 234 |
GO:0062197113 | Thyroid | PTC | cellular response to chemical stress | 180/5968 | 337/18723 | 1.36e-16 | 1.16e-14 | 180 |
GO:0034599113 | Thyroid | PTC | cellular response to oxidative stress | 151/5968 | 288/18723 | 2.82e-13 | 1.43e-11 | 151 |
GO:0000302113 | Thyroid | PTC | response to reactive oxygen species | 121/5968 | 222/18723 | 2.10e-12 | 9.26e-11 | 121 |
GO:0034614112 | Thyroid | PTC | cellular response to reactive oxygen species | 82/5968 | 155/18723 | 4.32e-08 | 9.27e-07 | 82 |
GO:000697934 | Thyroid | ATC | response to oxidative stress | 246/6293 | 446/18723 | 2.98e-21 | 6.09e-19 | 246 |
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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 |
ERCC6L2 | SNV | Missense_Mutation | novel | c.1047G>C | p.Asp350His | p.D350H | protein_coding | deleterious(0) | possibly_damaging(0.824) | TCGA-CV-7099-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ERCC6L2 | SNV | Missense_Mutation | novel | c.928C>T | p.Leu310Phe | p.L310F | Q5T890 | protein_coding | tolerated(0.05) | probably_damaging(1) | TCGA-CV-7253-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
ERCC6L2 | SNV | Missense_Mutation | novel | c.392N>G | p.Asn131Ser | p.N131S | Q5T890 | protein_coding | tolerated(0.09) | probably_damaging(0.997) | TCGA-D6-A6ES-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ERCC6L2 | SNV | Missense_Mutation | novel | c.856N>G | p.His286Asp | p.H286D | Q5T890 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-P3-A5QF-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cetuximab | PD |
ERCC6L2 | SNV | Missense_Mutation | novel | c.2014N>A | p.Ala672Thr | p.A672T | Q5T890 | protein_coding | deleterious(0.04) | benign(0.033) | TCGA-TN-A7HL-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | CR |
ERCC6L2 | deletion | Frame_Shift_Del | novel | c.1900delN | p.Cys634ValfsTer9 | p.C634Vfs*9 | Q5T890 | protein_coding | TCGA-BA-4075-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | III/IV | Chemotherapy | carboplatin | PD | ||
ERCC6L2 | SNV | Missense_Mutation | novel | c.663G>A | p.Ala222Thr | p.A222T | protein_coding | tolerated(0.09) | benign(0.233) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD | |
ERCC6L2 | SNV | Missense_Mutation | novel | c.1783A>C | p.Met595Leu | p.M595L | Q5T890 | protein_coding | tolerated(0.61) | benign(0.026) | TCGA-B7-A5TI-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | eloxatin | CR |
ERCC6L2 | SNV | Missense_Mutation | c.1971A>G | p.Ile657Met | p.I657M | Q5T890 | protein_coding | deleterious(0) | benign(0.036) | TCGA-BR-4361-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ERCC6L2 | SNV | Missense_Mutation | c.1988N>G | p.His663Arg | p.H663R | Q5T890 | protein_coding | tolerated(0.06) | benign(0.014) | TCGA-BR-4362-01 | Stomach | stomach 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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