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Gene: PPP2R1A |
Gene summary for PPP2R1A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PPP2R1A | Gene ID | 5518 |
| Gene name | protein phosphatase 2 scaffold subunit Aalpha | |
| Gene Alias | MRD36 | |
| Cytomap | 19q13.41 | |
| Gene Type | protein-coding | GO ID | GO:0001558 | UniProtAcc | A8K7B7 |
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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 |
| 5518 | PPP2R1A | A015-C-106 | Human | Colorectum | FAP | 7.90e-03 | -5.18e-02 | -0.0511 |
| 5518 | PPP2R1A | A015-C-104 | Human | Colorectum | FAP | 8.38e-07 | -1.39e-01 | -0.1899 |
| 5518 | PPP2R1A | A002-C-016 | Human | Colorectum | FAP | 5.14e-03 | 3.10e-02 | 0.0521 |
| 5518 | PPP2R1A | A002-C-116 | Human | Colorectum | FAP | 5.69e-08 | -9.08e-02 | -0.0452 |
| 5518 | PPP2R1A | A018-E-020 | Human | Colorectum | FAP | 4.46e-02 | -1.32e-01 | -0.2034 |
| 5518 | PPP2R1A | F034 | Human | Colorectum | FAP | 2.02e-05 | -1.41e-01 | -0.0665 |
| 5518 | PPP2R1A | AEH-subject1 | Human | Endometrium | AEH | 5.32e-08 | -3.22e-01 | -0.3059 |
| 5518 | PPP2R1A | AEH-subject2 | Human | Endometrium | AEH | 2.38e-05 | -3.09e-01 | -0.2525 |
| 5518 | PPP2R1A | AEH-subject3 | Human | Endometrium | AEH | 1.11e-09 | -3.26e-01 | -0.2576 |
| 5518 | PPP2R1A | AEH-subject4 | Human | Endometrium | AEH | 6.67e-11 | -4.48e-01 | -0.2657 |
| 5518 | PPP2R1A | AEH-subject5 | Human | Endometrium | AEH | 1.88e-19 | -5.03e-01 | -0.2953 |
| 5518 | PPP2R1A | EEC-subject1 | Human | Endometrium | EEC | 5.17e-25 | -5.13e-01 | -0.2682 |
| 5518 | PPP2R1A | EEC-subject2 | Human | Endometrium | EEC | 2.60e-12 | -3.33e-01 | -0.2607 |
| 5518 | PPP2R1A | EEC-subject3 | Human | Endometrium | EEC | 5.59e-37 | -5.55e-01 | -0.2525 |
| 5518 | PPP2R1A | EEC-subject4 | Human | Endometrium | EEC | 1.09e-21 | -4.98e-01 | -0.2571 |
| 5518 | PPP2R1A | EEC-subject5 | Human | Endometrium | EEC | 7.59e-09 | -3.25e-01 | -0.249 |
| 5518 | PPP2R1A | GSM5276934 | Human | Endometrium | EEC | 1.59e-04 | -2.46e-01 | -0.0913 |
| 5518 | PPP2R1A | GSM5276937 | Human | Endometrium | EEC | 3.71e-12 | -4.82e-01 | -0.0897 |
| 5518 | PPP2R1A | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 2.21e-27 | 2.62e-02 | -0.1869 |
| 5518 | PPP2R1A | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 5.59e-31 | 2.58e-02 | -0.1875 |
| Page: 1 2 3 4 5 6 7 8 9 10 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| 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:0008380 | Colorectum | AD | RNA splicing | 169/3918 | 434/18723 | 3.59e-18 | 2.04e-15 | 169 |
| GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
| GO:0001558 | Colorectum | AD | regulation of cell growth | 124/3918 | 414/18723 | 7.67e-06 | 1.86e-04 | 124 |
| GO:0030111 | Colorectum | AD | regulation of Wnt signaling pathway | 102/3918 | 328/18723 | 8.51e-06 | 2.03e-04 | 102 |
| GO:0010563 | Colorectum | AD | negative regulation of phosphorus metabolic process | 130/3918 | 442/18723 | 1.26e-05 | 2.76e-04 | 130 |
| GO:0016055 | Colorectum | AD | Wnt signaling pathway | 130/3918 | 444/18723 | 1.60e-05 | 3.37e-04 | 130 |
| GO:0045936 | Colorectum | AD | negative regulation of phosphate metabolic process | 129/3918 | 441/18723 | 1.81e-05 | 3.76e-04 | 129 |
| GO:0016311 | Colorectum | AD | dephosphorylation | 123/3918 | 417/18723 | 1.84e-05 | 3.82e-04 | 123 |
| GO:0198738 | Colorectum | AD | cell-cell signaling by wnt | 130/3918 | 446/18723 | 2.02e-05 | 4.10e-04 | 130 |
| GO:0006470 | Colorectum | AD | protein dephosphorylation | 88/3918 | 281/18723 | 2.56e-05 | 4.89e-04 | 88 |
| GO:0042326 | Colorectum | AD | negative regulation of phosphorylation | 112/3918 | 385/18723 | 8.02e-05 | 1.27e-03 | 112 |
| GO:0001933 | Colorectum | AD | negative regulation of protein phosphorylation | 101/3918 | 342/18723 | 9.39e-05 | 1.42e-03 | 101 |
| GO:0045926 | Colorectum | AD | negative regulation of growth | 70/3918 | 249/18723 | 4.07e-03 | 2.83e-02 | 70 |
| GO:00083801 | Colorectum | SER | RNA splicing | 123/2897 | 434/18723 | 3.84e-12 | 8.41e-10 | 123 |
| GO:00105631 | Colorectum | SER | negative regulation of phosphorus metabolic process | 101/2897 | 442/18723 | 2.39e-05 | 6.70e-04 | 101 |
| GO:00459361 | Colorectum | SER | negative regulation of phosphate metabolic process | 100/2897 | 441/18723 | 3.62e-05 | 9.39e-04 | 100 |
| GO:00019331 | Colorectum | SER | negative regulation of protein phosphorylation | 79/2897 | 342/18723 | 1.21e-04 | 2.49e-03 | 79 |
| GO:00160551 | Colorectum | SER | Wnt signaling pathway | 97/2897 | 444/18723 | 2.02e-04 | 3.68e-03 | 97 |
| GO:00423261 | Colorectum | SER | negative regulation of phosphorylation | 86/2897 | 385/18723 | 2.10e-04 | 3.78e-03 | 86 |
| GO:01987381 | Colorectum | SER | cell-cell signaling by wnt | 97/2897 | 446/18723 | 2.39e-04 | 4.11e-03 | 97 |
| 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 |
| hsa04530 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
| hsa04152 | Colorectum | AD | AMPK signaling pathway | 47/2092 | 121/8465 | 3.74e-04 | 2.82e-03 | 1.80e-03 | 47 |
| hsa05160 | Colorectum | AD | Hepatitis C | 54/2092 | 157/8465 | 3.87e-03 | 1.96e-02 | 1.25e-02 | 54 |
| hsa04071 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
| hsa04728 | Colorectum | AD | Dopaminergic synapse | 46/2092 | 132/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 46 |
| hsa03015 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
| hsa045301 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
| hsa041521 | Colorectum | AD | AMPK signaling pathway | 47/2092 | 121/8465 | 3.74e-04 | 2.82e-03 | 1.80e-03 | 47 |
| hsa051601 | Colorectum | AD | Hepatitis C | 54/2092 | 157/8465 | 3.87e-03 | 1.96e-02 | 1.25e-02 | 54 |
| hsa040711 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
| hsa047281 | Colorectum | AD | Dopaminergic synapse | 46/2092 | 132/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 46 |
| hsa030151 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
| hsa045302 | Colorectum | SER | Tight junction | 59/1580 | 169/8465 | 3.24e-07 | 5.98e-06 | 4.34e-06 | 59 |
| hsa047282 | Colorectum | SER | Dopaminergic synapse | 37/1580 | 132/8465 | 5.27e-03 | 3.28e-02 | 2.38e-02 | 37 |
| hsa04350 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
| hsa045303 | Colorectum | SER | Tight junction | 59/1580 | 169/8465 | 3.24e-07 | 5.98e-06 | 4.34e-06 | 59 |
| hsa047283 | Colorectum | SER | Dopaminergic synapse | 37/1580 | 132/8465 | 5.27e-03 | 3.28e-02 | 2.38e-02 | 37 |
| hsa043501 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
| hsa045304 | Colorectum | MSS | Tight junction | 66/1875 | 169/8465 | 4.10e-07 | 6.25e-06 | 3.83e-06 | 66 |
| hsa051602 | Colorectum | MSS | Hepatitis C | 52/1875 | 157/8465 | 9.29e-04 | 5.58e-03 | 3.42e-03 | 52 |
| Page: 1 2 3 4 5 6 7 8 |
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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 |
| PPP2R1A | SNV | Missense_Mutation | c.1318N>C | p.Asp440His | p.D440H | P30153 | protein_coding | deleterious(0) | benign(0.13) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| PPP2R1A | SNV | Missense_Mutation | novel | c.1416G>T | p.Lys472Asn | p.K472N | P30153 | protein_coding | tolerated(0.37) | benign(0.003) | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
| PPP2R1A | SNV | Missense_Mutation | c.547N>T | p.Arg183Trp | p.R183W | P30153 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PPP2R1A | SNV | Missense_Mutation | c.133G>C | p.Glu45Gln | p.E45Q | P30153 | protein_coding | tolerated(0.09) | possibly_damaging(0.621) | TCGA-E2-A1IH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD | |
| PPP2R1A | insertion | Frame_Shift_Ins | novel | c.1418_1419insGATGAGAAACTTAACTCCT | p.Phe473LeufsTer44 | p.F473Lfs*44 | P30153 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
| PPP2R1A | insertion | Frame_Shift_Ins | novel | c.127_128insAGAGCCGGCCTAGGGCAGGTCCTGCCGGCCTA | p.Gly43GlufsTer100 | p.G43Efs*100 | P30153 | protein_coding | TCGA-A7-A13D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| PPP2R1A | deletion | Frame_Shift_Del | novel | c.1297delN | p.Gln433SerfsTer34 | p.Q433Sfs*34 | P30153 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| PPP2R1A | SNV | Missense_Mutation | novel | c.1253N>A | p.Arg418Gln | p.R418Q | P30153 | protein_coding | deleterious(0) | possibly_damaging(0.86) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| PPP2R1A | SNV | Missense_Mutation | novel | c.345N>G | p.Ile115Met | p.I115M | P30153 | protein_coding | deleterious(0) | possibly_damaging(0.814) | TCGA-C5-A7CK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| PPP2R1A | SNV | Missense_Mutation | c.359N>T | p.Ser120Leu | p.S120L | P30153 | protein_coding | deleterious(0.01) | benign(0.143) | TCGA-DS-A0VK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
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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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