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Gene: AP2S1 |
Gene summary for AP2S1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AP2S1 | Gene ID | 1175 |
| Gene name | adaptor related protein complex 2 subunit sigma 1 | |
| Gene Alias | AP17 | |
| Cytomap | 19q13.32 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | M0QYZ2 |
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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 |
| 1175 | AP2S1 | GSM4909281 | Human | Breast | IDC | 2.70e-11 | 3.51e-01 | 0.21 |
| 1175 | AP2S1 | GSM4909282 | Human | Breast | IDC | 3.88e-16 | 4.20e-01 | -0.0288 |
| 1175 | AP2S1 | GSM4909285 | Human | Breast | IDC | 4.34e-03 | 4.21e-02 | 0.21 |
| 1175 | AP2S1 | GSM4909288 | Human | Breast | IDC | 2.58e-02 | 6.67e-03 | 0.0988 |
| 1175 | AP2S1 | GSM4909290 | Human | Breast | IDC | 2.08e-06 | 3.73e-01 | 0.2096 |
| 1175 | AP2S1 | GSM4909291 | Human | Breast | IDC | 6.00e-18 | 5.57e-01 | 0.1753 |
| 1175 | AP2S1 | GSM4909294 | Human | Breast | IDC | 6.96e-07 | 1.98e-01 | 0.2022 |
| 1175 | AP2S1 | GSM4909296 | Human | Breast | IDC | 2.97e-29 | 5.26e-01 | 0.1524 |
| 1175 | AP2S1 | GSM4909297 | Human | Breast | IDC | 1.82e-12 | -1.23e-01 | 0.1517 |
| 1175 | AP2S1 | GSM4909298 | Human | Breast | IDC | 2.18e-05 | 1.89e-01 | 0.1551 |
| 1175 | AP2S1 | GSM4909306 | Human | Breast | IDC | 1.68e-16 | 4.50e-01 | 0.1564 |
| 1175 | AP2S1 | GSM4909307 | Human | Breast | IDC | 2.73e-03 | 2.32e-01 | 0.1569 |
| 1175 | AP2S1 | GSM4909308 | Human | Breast | IDC | 4.62e-14 | 4.42e-01 | 0.158 |
| 1175 | AP2S1 | GSM4909311 | Human | Breast | IDC | 3.36e-30 | -1.66e-01 | 0.1534 |
| 1175 | AP2S1 | GSM4909312 | Human | Breast | IDC | 1.65e-10 | 5.53e-02 | 0.1552 |
| 1175 | AP2S1 | GSM4909315 | Human | Breast | IDC | 4.61e-19 | 5.20e-01 | 0.21 |
| 1175 | AP2S1 | GSM4909316 | Human | Breast | IDC | 2.44e-21 | 6.57e-01 | 0.21 |
| 1175 | AP2S1 | GSM4909318 | Human | Breast | IDC | 2.42e-05 | 3.39e-01 | 0.2031 |
| 1175 | AP2S1 | GSM4909319 | Human | Breast | IDC | 9.72e-38 | -2.84e-01 | 0.1563 |
| 1175 | AP2S1 | GSM4909320 | Human | Breast | IDC | 3.21e-12 | 1.30e-01 | 0.1575 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| 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 | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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:00068986 | Breast | Precancer | receptor-mediated endocytosis | 27/1080 | 244/18723 | 9.01e-04 | 1.03e-02 | 27 |
| GO:00482685 | Breast | Precancer | clathrin coat assembly | 5/1080 | 18/18723 | 2.88e-03 | 2.49e-02 | 5 |
| GO:000689813 | Breast | IDC | receptor-mediated endocytosis | 35/1434 | 244/18723 | 2.38e-04 | 3.75e-03 | 35 |
| GO:00301007 | Breast | IDC | regulation of endocytosis | 27/1434 | 211/18723 | 5.92e-03 | 4.26e-02 | 27 |
| GO:000689823 | Breast | DCIS | receptor-mediated endocytosis | 35/1390 | 244/18723 | 1.31e-04 | 2.25e-03 | 35 |
| GO:00068987 | Cervix | CC | receptor-mediated endocytosis | 53/2311 | 244/18723 | 2.52e-05 | 4.29e-04 | 53 |
| GO:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
| GO:00725836 | Cervix | CC | clathrin-dependent endocytosis | 16/2311 | 47/18723 | 9.56e-05 | 1.25e-03 | 16 |
| GO:00482686 | Cervix | CC | clathrin coat assembly | 7/2311 | 18/18723 | 3.99e-03 | 2.48e-02 | 7 |
| GO:000689814 | Cervix | HSIL_HPV | receptor-mediated endocytosis | 20/737 | 244/18723 | 1.64e-03 | 1.78e-02 | 20 |
| GO:0072583 | Colorectum | AD | clathrin-dependent endocytosis | 24/3918 | 47/18723 | 4.60e-06 | 1.22e-04 | 24 |
| GO:0006898 | Colorectum | AD | receptor-mediated endocytosis | 76/3918 | 244/18723 | 1.07e-04 | 1.59e-03 | 76 |
| GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
| GO:0048268 | Colorectum | AD | clathrin coat assembly | 10/3918 | 18/18723 | 1.31e-03 | 1.15e-02 | 10 |
| GO:00301001 | Colorectum | SER | regulation of endocytosis | 48/2897 | 211/18723 | 3.29e-03 | 2.82e-02 | 48 |
| GO:00725831 | Colorectum | MSS | clathrin-dependent endocytosis | 22/3467 | 47/18723 | 8.74e-06 | 2.16e-04 | 22 |
| GO:00301002 | Colorectum | MSS | regulation of endocytosis | 63/3467 | 211/18723 | 4.05e-05 | 7.66e-04 | 63 |
| GO:00068981 | Colorectum | MSS | receptor-mediated endocytosis | 69/3467 | 244/18723 | 1.18e-04 | 1.82e-03 | 69 |
| GO:00482681 | Colorectum | MSS | clathrin coat assembly | 10/3467 | 18/18723 | 4.76e-04 | 5.58e-03 | 10 |
| GO:00301009 | Endometrium | AEH | regulation of endocytosis | 44/2100 | 211/18723 | 3.39e-05 | 6.05e-04 | 44 |
| Page: 1 2 3 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0501616 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0501617 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0501623 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
| hsa0496121 | Breast | IDC | Endocrine and other factor-regulated calcium reabsorption | 12/867 | 53/8465 | 6.29e-03 | 3.30e-02 | 2.47e-02 | 12 |
| hsa0501633 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
| hsa0496131 | Breast | IDC | Endocrine and other factor-regulated calcium reabsorption | 12/867 | 53/8465 | 6.29e-03 | 3.30e-02 | 2.47e-02 | 12 |
| hsa0501643 | Breast | DCIS | Huntington disease | 101/846 | 306/8465 | 1.54e-29 | 1.24e-27 | 9.13e-28 | 101 |
| hsa0496141 | Breast | DCIS | Endocrine and other factor-regulated calcium reabsorption | 12/846 | 53/8465 | 5.17e-03 | 2.69e-02 | 1.98e-02 | 12 |
| hsa0414416 | Breast | DCIS | Endocytosis | 37/846 | 251/8465 | 9.92e-03 | 4.40e-02 | 3.24e-02 | 37 |
| hsa0501653 | Breast | DCIS | Huntington disease | 101/846 | 306/8465 | 1.54e-29 | 1.24e-27 | 9.13e-28 | 101 |
| hsa0496151 | Breast | DCIS | Endocrine and other factor-regulated calcium reabsorption | 12/846 | 53/8465 | 5.17e-03 | 2.69e-02 | 1.98e-02 | 12 |
| hsa0414417 | Breast | DCIS | Endocytosis | 37/846 | 251/8465 | 9.92e-03 | 4.40e-02 | 3.24e-02 | 37 |
| hsa0501618 | Cervix | CC | Huntington disease | 94/1267 | 306/8465 | 8.49e-13 | 3.06e-11 | 1.81e-11 | 94 |
| hsa0414418 | Cervix | CC | Endocytosis | 64/1267 | 251/8465 | 6.97e-06 | 6.10e-05 | 3.61e-05 | 64 |
| hsa0501619 | Cervix | CC | Huntington disease | 94/1267 | 306/8465 | 8.49e-13 | 3.06e-11 | 1.81e-11 | 94 |
| hsa0414419 | Cervix | CC | Endocytosis | 64/1267 | 251/8465 | 6.97e-06 | 6.10e-05 | 3.61e-05 | 64 |
| hsa0501624 | Cervix | HSIL_HPV | Huntington disease | 38/459 | 306/8465 | 1.21e-06 | 2.54e-05 | 2.05e-05 | 38 |
| hsa0501634 | Cervix | HSIL_HPV | Huntington disease | 38/459 | 306/8465 | 1.21e-06 | 2.54e-05 | 2.05e-05 | 38 |
| hsa05016 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
| hsa04144 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
| Page: 1 2 3 4 5 |
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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 |
| AP2S1 | SNV | Missense_Mutation | c.127G>A | p.Glu43Lys | p.E43K | protein_coding | tolerated(0.06) | benign(0.291) | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| AP2S1 | SNV | Missense_Mutation | novel | c.55C>T | p.Arg19Cys | p.R19C | protein_coding | deleterious(0.05) | benign(0.17) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| AP2S1 | SNV | Missense_Mutation | rs756038304 | c.383N>T | p.Thr128Met | p.T128M | protein_coding | tolerated(0.24) | benign(0.118) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| AP2S1 | SNV | Missense_Mutation | novel | c.386N>C | p.Val129Ala | p.V129A | protein_coding | deleterious(0) | possibly_damaging(0.731) | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| AP2S1 | SNV | Missense_Mutation | novel | c.173N>A | p.Arg58Gln | p.R58Q | protein_coding | deleterious(0) | probably_damaging(0.963) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD | |
| AP2S1 | SNV | Missense_Mutation | novel | c.212N>G | p.Phe71Cys | p.F71C | protein_coding | tolerated(0.14) | benign(0.073) | TCGA-51-6867-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| Page: 1 |
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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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