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Gene: AP2S1 |
Gene summary for AP2S1 |
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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 |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1175 | AP2S1 | GSM4909321 | Human | Breast | IDC | 8.70e-22 | 3.02e-01 | 0.1559 |
1175 | AP2S1 | brca1 | Human | Breast | Precancer | 1.91e-13 | 4.20e-01 | -0.0338 |
1175 | AP2S1 | brca2 | Human | Breast | Precancer | 3.56e-07 | 2.94e-01 | -0.024 |
1175 | AP2S1 | brca3 | Human | Breast | Precancer | 9.36e-06 | 5.68e-02 | -0.0263 |
1175 | AP2S1 | M2 | Human | Breast | IDC | 1.09e-05 | 3.31e-01 | 0.21 |
1175 | AP2S1 | NCCBC14 | Human | Breast | DCIS | 2.19e-24 | 3.46e-01 | 0.2021 |
1175 | AP2S1 | NCCBC3 | Human | Breast | DCIS | 1.08e-08 | 1.88e-01 | 0.1198 |
1175 | AP2S1 | NCCBC5 | Human | Breast | DCIS | 5.34e-18 | 4.92e-02 | 0.2046 |
1175 | AP2S1 | P1 | Human | Breast | IDC | 5.52e-20 | -2.60e-01 | 0.1527 |
1175 | AP2S1 | P2 | Human | Breast | IDC | 6.02e-10 | 3.12e-01 | 0.21 |
1175 | AP2S1 | DCIS2 | Human | Breast | DCIS | 4.26e-52 | 4.98e-02 | 0.0085 |
1175 | AP2S1 | CA_HPV_1 | Human | Cervix | CC | 1.80e-08 | -1.97e-02 | 0.0264 |
1175 | AP2S1 | CCI_1 | Human | Cervix | CC | 2.38e-03 | -6.01e-01 | 0.528 |
1175 | AP2S1 | CCI_2 | Human | Cervix | CC | 1.30e-05 | -5.52e-01 | 0.5249 |
1175 | AP2S1 | CCI_3 | Human | Cervix | CC | 4.83e-09 | -6.17e-01 | 0.516 |
1175 | AP2S1 | CCII_1 | Human | Cervix | CC | 2.84e-17 | -7.28e-01 | 0.3249 |
1175 | AP2S1 | Tumor | Human | Cervix | CC | 4.31e-15 | 5.07e-01 | 0.1241 |
1175 | AP2S1 | sample3 | Human | Cervix | CC | 9.00e-14 | 4.36e-01 | 0.1387 |
1175 | AP2S1 | H2 | Human | Cervix | HSIL_HPV | 2.51e-03 | -2.78e-01 | 0.0632 |
1175 | AP2S1 | L1 | Human | Cervix | CC | 6.67e-04 | -1.21e-01 | 0.0802 |
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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: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 |
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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 |
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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 |
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 |
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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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