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Gene: ERLEC1 |
Gene summary for ERLEC1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ERLEC1 | Gene ID | 27248 |
| Gene name | endoplasmic reticulum lectin 1 | |
| Gene Alias | C2orf30 | |
| Cytomap | 2p16.2 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q96DZ1 |
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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 |
| 27248 | ERLEC1 | LZE2T | Human | Esophagus | ESCC | 8.61e-04 | 7.59e-01 | 0.082 |
| 27248 | ERLEC1 | LZE4T | Human | Esophagus | ESCC | 3.47e-13 | 6.30e-01 | 0.0811 |
| 27248 | ERLEC1 | LZE5T | Human | Esophagus | ESCC | 1.62e-03 | 6.24e-01 | 0.0514 |
| 27248 | ERLEC1 | LZE7T | Human | Esophagus | ESCC | 8.90e-10 | 5.78e-01 | 0.0667 |
| 27248 | ERLEC1 | LZE8T | Human | Esophagus | ESCC | 2.38e-08 | 3.55e-01 | 0.067 |
| 27248 | ERLEC1 | LZE20T | Human | Esophagus | ESCC | 9.57e-08 | 2.08e-01 | 0.0662 |
| 27248 | ERLEC1 | LZE24T | Human | Esophagus | ESCC | 4.91e-29 | 9.17e-01 | 0.0596 |
| 27248 | ERLEC1 | LZE6T | Human | Esophagus | ESCC | 2.59e-09 | 5.05e-01 | 0.0845 |
| 27248 | ERLEC1 | P1T-E | Human | Esophagus | ESCC | 2.43e-14 | 8.44e-01 | 0.0875 |
| 27248 | ERLEC1 | P2T-E | Human | Esophagus | ESCC | 4.07e-66 | 1.19e+00 | 0.1177 |
| 27248 | ERLEC1 | P4T-E | Human | Esophagus | ESCC | 8.22e-40 | 9.68e-01 | 0.1323 |
| 27248 | ERLEC1 | P5T-E | Human | Esophagus | ESCC | 1.46e-19 | 4.14e-01 | 0.1327 |
| 27248 | ERLEC1 | P8T-E | Human | Esophagus | ESCC | 1.95e-56 | 9.54e-01 | 0.0889 |
| 27248 | ERLEC1 | P9T-E | Human | Esophagus | ESCC | 1.38e-19 | 7.08e-01 | 0.1131 |
| 27248 | ERLEC1 | P10T-E | Human | Esophagus | ESCC | 1.34e-51 | 9.13e-01 | 0.116 |
| 27248 | ERLEC1 | P11T-E | Human | Esophagus | ESCC | 1.24e-20 | 1.13e+00 | 0.1426 |
| 27248 | ERLEC1 | P12T-E | Human | Esophagus | ESCC | 4.44e-44 | 8.60e-01 | 0.1122 |
| 27248 | ERLEC1 | P15T-E | Human | Esophagus | ESCC | 2.01e-26 | 6.93e-01 | 0.1149 |
| 27248 | ERLEC1 | P16T-E | Human | Esophagus | ESCC | 1.12e-71 | 1.28e+00 | 0.1153 |
| 27248 | ERLEC1 | P17T-E | Human | Esophagus | ESCC | 1.35e-06 | 5.70e-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 | ||
| 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:19035131 | Liver | HCC | endoplasmic reticulum to cytosol transport | 24/7958 | 29/18723 | 1.04e-05 | 1.20e-04 | 24 |
| GO:190382811 | Liver | HCC | negative regulation of cellular protein localization | 71/7958 | 117/18723 | 5.44e-05 | 5.12e-04 | 71 |
| GO:00323871 | Liver | HCC | negative regulation of intracellular transport | 37/7958 | 58/18723 | 8.64e-04 | 5.13e-03 | 37 |
| GO:00708612 | Liver | HCC | regulation of protein exit from endoplasmic reticulum | 20/7958 | 27/18723 | 8.85e-04 | 5.23e-03 | 20 |
| GO:19049501 | Liver | HCC | negative regulation of establishment of protein localization | 72/7958 | 131/18723 | 2.65e-03 | 1.27e-02 | 72 |
| GO:00708621 | Liver | HCC | negative regulation of protein exit from endoplasmic reticulum | 9/7958 | 10/18723 | 2.79e-03 | 1.31e-02 | 9 |
| GO:00903171 | Liver | HCC | negative regulation of intracellular protein transport | 27/7958 | 42/18723 | 3.60e-03 | 1.60e-02 | 27 |
| GO:00512241 | Liver | HCC | negative regulation of protein transport | 69/7958 | 127/18723 | 4.67e-03 | 2.01e-02 | 69 |
| GO:19041521 | Liver | HCC | regulation of retrograde protein transport, ER to cytosol | 11/7958 | 14/18723 | 6.81e-03 | 2.73e-02 | 11 |
| GO:001049820 | Oral cavity | OSCC | proteasomal protein catabolic process | 336/7305 | 490/18723 | 5.45e-41 | 8.63e-38 | 336 |
| GO:004316120 | Oral cavity | OSCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 285/7305 | 412/18723 | 5.68e-36 | 5.99e-33 | 285 |
| GO:003497620 | Oral cavity | OSCC | response to endoplasmic reticulum stress | 178/7305 | 256/18723 | 2.59e-23 | 6.06e-21 | 178 |
| GO:003238615 | Oral cavity | OSCC | regulation of intracellular transport | 218/7305 | 337/18723 | 6.91e-22 | 1.41e-19 | 218 |
| GO:003596620 | Oral cavity | OSCC | response to topologically incorrect protein | 117/7305 | 159/18723 | 6.93e-19 | 8.60e-17 | 117 |
| GO:003315718 | Oral cavity | OSCC | regulation of intracellular protein transport | 155/7305 | 229/18723 | 1.05e-18 | 1.28e-16 | 155 |
| GO:000698620 | Oral cavity | OSCC | response to unfolded protein | 103/7305 | 137/18723 | 6.47e-18 | 6.50e-16 | 103 |
| GO:003596720 | Oral cavity | OSCC | cellular response to topologically incorrect protein | 83/7305 | 116/18723 | 1.09e-12 | 4.84e-11 | 83 |
| GO:00304334 | Oral cavity | OSCC | ubiquitin-dependent ERAD pathway | 65/7305 | 85/18723 | 2.12e-12 | 8.99e-11 | 65 |
| GO:003462019 | Oral cavity | OSCC | cellular response to unfolded protein | 71/7305 | 96/18723 | 3.45e-12 | 1.35e-10 | 71 |
| GO:00365035 | Oral cavity | OSCC | ERAD pathway | 76/7305 | 107/18723 | 1.76e-11 | 6.11e-10 | 76 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa04141211 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
| hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
| hsa0414114 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
| hsa0414115 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
| hsa0414122 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
| hsa0414132 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
| hsa0414130 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
| hsa04141113 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
| hsa04141210 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
| hsa0414138 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
| hsa0414145 | Oral cavity | EOLP | Protein processing in endoplasmic reticulum | 70/1218 | 174/8465 | 2.84e-17 | 3.06e-15 | 1.81e-15 | 70 |
| hsa0414155 | Oral cavity | EOLP | Protein processing in endoplasmic reticulum | 70/1218 | 174/8465 | 2.84e-17 | 3.06e-15 | 1.81e-15 | 70 |
| hsa0414128 | Prostate | BPH | Protein processing in endoplasmic reticulum | 97/1718 | 174/8465 | 2.37e-25 | 1.30e-23 | 8.07e-24 | 97 |
| hsa04141112 | Prostate | BPH | Protein processing in endoplasmic reticulum | 97/1718 | 174/8465 | 2.37e-25 | 1.30e-23 | 8.07e-24 | 97 |
| hsa0414129 | Prostate | Tumor | Protein processing in endoplasmic reticulum | 99/1791 | 174/8465 | 2.58e-25 | 1.71e-23 | 1.06e-23 | 99 |
| hsa0414137 | Prostate | Tumor | Protein processing in endoplasmic reticulum | 99/1791 | 174/8465 | 2.58e-25 | 1.71e-23 | 1.06e-23 | 99 |
| Page: 1 |
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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 |
| ERLEC1 | SNV | Missense_Mutation | c.1031G>T | p.Cys344Phe | p.C344F | Q96DZ1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A0AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| ERLEC1 | SNV | Missense_Mutation | novel | c.95G>A | p.Arg32Gln | p.R32Q | Q96DZ1 | protein_coding | tolerated(0.15) | benign(0.098) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| ERLEC1 | SNV | Missense_Mutation | c.1207N>A | p.Asp403Asn | p.D403N | Q96DZ1 | protein_coding | deleterious(0.04) | probably_damaging(0.916) | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | |
| ERLEC1 | SNV | Missense_Mutation | c.112N>C | p.Ser38Arg | p.S38R | Q96DZ1 | protein_coding | deleterious(0.02) | benign(0.005) | TCGA-JW-A5VK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| ERLEC1 | SNV | Missense_Mutation | rs748288717 | c.494G>A | p.Arg165Gln | p.R165Q | Q96DZ1 | protein_coding | tolerated(0.61) | benign(0.001) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| ERLEC1 | SNV | Missense_Mutation | c.1124C>A | p.Ser375Tyr | p.S375Y | Q96DZ1 | protein_coding | deleterious(0.02) | possibly_damaging(0.744) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
| ERLEC1 | SNV | Missense_Mutation | rs146951835 | c.1448N>G | p.Asn483Ser | p.N483S | Q96DZ1 | protein_coding | tolerated_low_confidence(0.67) | benign(0) | TCGA-AZ-6606-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folfiri | PD |
| ERLEC1 | SNV | Missense_Mutation | rs201137433 | c.517N>C | p.Ser173Pro | p.S173P | Q96DZ1 | protein_coding | tolerated(0.2) | benign(0.003) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
| ERLEC1 | SNV | Missense_Mutation | c.812N>T | p.Pro271Leu | p.P271L | Q96DZ1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D5-5541-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | calcium | SD | |
| ERLEC1 | SNV | Missense_Mutation | novel | c.1439N>A | p.Ser480Tyr | p.S480Y | Q96DZ1 | protein_coding | deleterious(0) | benign(0.386) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <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 |
| Page: 1 |
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