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Gene: ERC1 |
Gene summary for ERC1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ERC1 | Gene ID | 23085 |
| Gene name | ELKS/RAB6-interacting/CAST family member 1 | |
| Gene Alias | Cast2 | |
| Cytomap | 12p13.33 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | G8JLD3 |
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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 |
| 23085 | ERC1 | CCI_1 | Human | Cervix | CC | 3.20e-17 | 1.36e+00 | 0.528 |
| 23085 | ERC1 | CCI_2 | Human | Cervix | CC | 1.93e-17 | 1.53e+00 | 0.5249 |
| 23085 | ERC1 | CCI_3 | Human | Cervix | CC | 5.13e-41 | 2.35e+00 | 0.516 |
| 23085 | ERC1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 6.78e-20 | -5.49e-01 | 0.0155 |
| 23085 | ERC1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 4.23e-02 | -4.18e-01 | -0.1207 |
| 23085 | ERC1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 4.67e-02 | -6.68e-01 | -0.1462 |
| 23085 | ERC1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 2.07e-05 | -6.69e-01 | -0.0179 |
| 23085 | ERC1 | HTA11_8622_2000001021 | Human | Colorectum | SER | 8.72e-04 | -5.82e-01 | 0.0528 |
| 23085 | ERC1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.07e-11 | -5.03e-01 | 0.294 |
| 23085 | ERC1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 3.65e-08 | -4.10e-01 | 0.3005 |
| 23085 | ERC1 | A015-C-203 | Human | Colorectum | FAP | 1.11e-33 | -4.19e-01 | -0.1294 |
| 23085 | ERC1 | A015-C-204 | Human | Colorectum | FAP | 3.38e-07 | -3.34e-01 | -0.0228 |
| 23085 | ERC1 | A014-C-040 | Human | Colorectum | FAP | 3.18e-05 | -3.55e-01 | -0.1184 |
| 23085 | ERC1 | A002-C-201 | Human | Colorectum | FAP | 1.08e-14 | -3.53e-01 | 0.0324 |
| 23085 | ERC1 | A002-C-203 | Human | Colorectum | FAP | 3.09e-04 | -1.36e-01 | 0.2786 |
| 23085 | ERC1 | A001-C-119 | Human | Colorectum | FAP | 5.67e-04 | -1.66e-01 | -0.1557 |
| 23085 | ERC1 | A001-C-108 | Human | Colorectum | FAP | 1.71e-15 | -2.37e-01 | -0.0272 |
| 23085 | ERC1 | A002-C-205 | Human | Colorectum | FAP | 5.29e-24 | -2.30e-01 | -0.1236 |
| 23085 | ERC1 | A015-C-006 | Human | Colorectum | FAP | 9.68e-18 | -2.26e-01 | -0.0994 |
| 23085 | ERC1 | A015-C-106 | Human | Colorectum | FAP | 7.22e-09 | -1.44e-01 | -0.0511 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| 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:000989519 | Oral cavity | OSCC | negative regulation of catabolic process | 180/7305 | 320/18723 | 2.44e-10 | 6.86e-09 | 180 |
| GO:003133020 | Oral cavity | OSCC | negative regulation of cellular catabolic process | 152/7305 | 262/18723 | 3.04e-10 | 8.28e-09 | 152 |
| GO:00510907 | Oral cavity | OSCC | regulation of DNA-binding transcription factor activity | 221/7305 | 440/18723 | 9.06e-07 | 1.23e-05 | 221 |
| GO:00510917 | Oral cavity | OSCC | positive regulation of DNA-binding transcription factor activity | 134/7305 | 260/18723 | 2.52e-05 | 2.35e-04 | 134 |
| GO:00421476 | Oral cavity | OSCC | retrograde transport, endosome to Golgi | 55/7305 | 91/18723 | 2.79e-05 | 2.59e-04 | 55 |
| GO:00105075 | Oral cavity | OSCC | negative regulation of autophagy | 51/7305 | 85/18723 | 7.08e-05 | 5.62e-04 | 51 |
| GO:00510925 | Oral cavity | OSCC | positive regulation of NF-kappaB transcription factor activity | 82/7305 | 152/18723 | 1.28e-04 | 9.13e-04 | 82 |
| GO:001050615 | Oral cavity | LP | regulation of autophagy | 132/4623 | 317/18723 | 1.82e-11 | 1.28e-09 | 132 |
| GO:0009895110 | Oral cavity | LP | negative regulation of catabolic process | 128/4623 | 320/18723 | 8.36e-10 | 3.91e-08 | 128 |
| GO:0031330110 | Oral cavity | LP | negative regulation of cellular catabolic process | 107/4623 | 262/18723 | 5.25e-09 | 2.16e-07 | 107 |
| GO:001050711 | Oral cavity | LP | negative regulation of autophagy | 38/4623 | 85/18723 | 4.36e-05 | 6.24e-04 | 38 |
| GO:001050622 | Oral cavity | EOLP | regulation of autophagy | 74/2218 | 317/18723 | 5.84e-09 | 3.07e-07 | 74 |
| GO:003133025 | Oral cavity | EOLP | negative regulation of cellular catabolic process | 64/2218 | 262/18723 | 9.72e-09 | 4.77e-07 | 64 |
| GO:000989525 | Oral cavity | EOLP | negative regulation of catabolic process | 73/2218 | 320/18723 | 2.07e-08 | 8.84e-07 | 73 |
| GO:001648223 | Oral cavity | EOLP | cytosolic transport | 44/2218 | 168/18723 | 2.40e-07 | 7.45e-06 | 44 |
| GO:000724924 | Oral cavity | EOLP | I-kappaB kinase/NF-kappaB signaling | 62/2218 | 281/18723 | 8.00e-07 | 2.02e-05 | 62 |
| GO:005109021 | Oral cavity | EOLP | regulation of DNA-binding transcription factor activity | 80/2218 | 440/18723 | 5.77e-05 | 7.31e-04 | 80 |
| GO:001619722 | Oral cavity | EOLP | endosomal transport | 45/2218 | 230/18723 | 4.63e-04 | 4.07e-03 | 45 |
| GO:004214722 | Oral cavity | EOLP | retrograde transport, endosome to Golgi | 21/2218 | 91/18723 | 1.89e-03 | 1.21e-02 | 21 |
| GO:001050721 | Oral cavity | EOLP | negative regulation of autophagy | 19/2218 | 85/18723 | 4.41e-03 | 2.40e-02 | 19 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa040645 | Esophagus | ESCC | NF-kappa B signaling pathway | 67/4205 | 104/8465 | 1.62e-03 | 4.89e-03 | 2.50e-03 | 67 |
| hsa0406412 | Esophagus | ESCC | NF-kappa B signaling pathway | 67/4205 | 104/8465 | 1.62e-03 | 4.89e-03 | 2.50e-03 | 67 |
| hsa040644 | Oral cavity | OSCC | NF-kappa B signaling pathway | 67/3704 | 104/8465 | 1.57e-05 | 6.75e-05 | 3.44e-05 | 67 |
| hsa0406411 | Oral cavity | OSCC | NF-kappa B signaling pathway | 67/3704 | 104/8465 | 1.57e-05 | 6.75e-05 | 3.44e-05 | 67 |
| hsa040642 | Oral cavity | EOLP | NF-kappa B signaling pathway | 31/1218 | 104/8465 | 3.72e-05 | 1.82e-04 | 1.07e-04 | 31 |
| hsa040643 | Oral cavity | EOLP | NF-kappa B signaling pathway | 31/1218 | 104/8465 | 3.72e-05 | 1.82e-04 | 1.07e-04 | 31 |
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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 |
| ERC1 | SNV | Missense_Mutation | c.2334N>C | p.Lys778Asn | p.K778N | Q8IUD2 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| ERC1 | SNV | Missense_Mutation | novel | c.3131G>T | p.Gly1044Val | p.G1044V | Q8IUD2 | protein_coding | deleterious_low_confidence(0.03) | benign(0.011) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
| ERC1 | SNV | Missense_Mutation | c.3016N>G | p.Pro1006Ala | p.P1006A | Q8IUD2 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.813) | TCGA-A2-A25E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD | |
| ERC1 | SNV | Missense_Mutation | c.3139C>T | p.Pro1047Ser | p.P1047S | Q8IUD2 | protein_coding | tolerated_low_confidence(0.08) | probably_damaging(0.994) | TCGA-A7-A0D9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD | |
| ERC1 | SNV | Missense_Mutation | novel | c.430N>T | p.Arg144Cys | p.R144C | Q8IUD2 | protein_coding | deleterious(0) | probably_damaging(0.943) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ERC1 | SNV | Missense_Mutation | novel | c.2843N>T | p.Ser948Leu | p.S948L | Q8IUD2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ERC1 | SNV | Missense_Mutation | c.1783A>T | p.Ser595Cys | p.S595C | Q8IUD2 | protein_coding | tolerated(0.07) | probably_damaging(0.926) | TCGA-AO-A12H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| ERC1 | SNV | Missense_Mutation | c.1120N>C | p.Ser374Pro | p.S374P | Q8IUD2 | protein_coding | tolerated(0.66) | benign(0.012) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ERC1 | SNV | Missense_Mutation | c.2738G>A | p.Arg913Gln | p.R913Q | Q8IUD2 | protein_coding | tolerated(0.14) | probably_damaging(0.989) | TCGA-E2-A573-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | |
| ERC1 | insertion | Frame_Shift_Ins | novel | c.3210_3211insAT | p.Gln1071IlefsTer7 | p.Q1071Ifs*7 | Q8IUD2 | protein_coding | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
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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 |
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