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Gene: APPL2 |
Gene summary for APPL2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | APPL2 | Gene ID | 55198 |
| Gene name | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 | |
| Gene Alias | DIP13B | |
| Cytomap | 12q23.3 | |
| Gene Type | protein-coding | GO ID | GO:0000082 | UniProtAcc | Q8NEU8 |
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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 |
| 55198 | APPL2 | HSIL_HPV_2 | Human | Cervix | HSIL_HPV | 3.17e-02 | 1.39e-01 | 0.0208 |
| 55198 | APPL2 | CCI_2 | Human | Cervix | CC | 4.69e-10 | 1.02e+00 | 0.5249 |
| 55198 | APPL2 | CCI_3 | Human | Cervix | CC | 8.97e-09 | 6.33e-01 | 0.516 |
| 55198 | APPL2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.14e-04 | 4.83e-01 | -0.1808 |
| 55198 | APPL2 | HTA11_347_2000001011 | Human | Colorectum | AD | 4.09e-11 | 5.67e-01 | -0.1954 |
| 55198 | APPL2 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.39e-02 | 6.05e-01 | -0.2602 |
| 55198 | APPL2 | A015-C-203 | Human | Colorectum | FAP | 9.65e-09 | -4.29e-02 | -0.1294 |
| 55198 | APPL2 | A002-C-201 | Human | Colorectum | FAP | 6.15e-03 | -7.82e-02 | 0.0324 |
| 55198 | APPL2 | A001-C-108 | Human | Colorectum | FAP | 5.31e-07 | 2.27e-01 | -0.0272 |
| 55198 | APPL2 | A002-C-205 | Human | Colorectum | FAP | 4.15e-07 | -7.71e-02 | -0.1236 |
| 55198 | APPL2 | A015-C-006 | Human | Colorectum | FAP | 4.04e-05 | 3.32e-02 | -0.0994 |
| 55198 | APPL2 | A002-C-114 | Human | Colorectum | FAP | 1.19e-05 | 7.07e-03 | -0.1561 |
| 55198 | APPL2 | A015-C-104 | Human | Colorectum | FAP | 1.61e-10 | -1.06e-01 | -0.1899 |
| 55198 | APPL2 | A001-C-014 | Human | Colorectum | FAP | 9.69e-04 | 7.94e-02 | 0.0135 |
| 55198 | APPL2 | A002-C-016 | Human | Colorectum | FAP | 6.44e-04 | -7.56e-02 | 0.0521 |
| 55198 | APPL2 | A001-C-203 | Human | Colorectum | FAP | 1.05e-03 | 1.92e-01 | -0.0481 |
| 55198 | APPL2 | A002-C-116 | Human | Colorectum | FAP | 2.30e-11 | -1.30e-01 | -0.0452 |
| 55198 | APPL2 | A014-C-008 | Human | Colorectum | FAP | 3.31e-04 | 1.29e-01 | -0.191 |
| 55198 | APPL2 | A018-E-020 | Human | Colorectum | FAP | 1.22e-05 | -2.68e-02 | -0.2034 |
| 55198 | APPL2 | F034 | Human | Colorectum | FAP | 6.92e-07 | 1.02e-01 | -0.0665 |
| Page: 1 2 3 4 5 |
| 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 | ||
| 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 |
| ∗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:00485483 | Esophagus | ESCC | regulation of pinocytosis | 11/8552 | 12/18723 | 1.26e-03 | 6.06e-03 | 11 |
| GO:00512623 | Esophagus | ESCC | protein tetramerization | 54/8552 | 87/18723 | 1.50e-03 | 7.06e-03 | 54 |
| GO:00107619 | Esophagus | ESCC | fibroblast migration | 32/8552 | 47/18723 | 1.59e-03 | 7.43e-03 | 32 |
| GO:200004513 | Esophagus | ESCC | regulation of G1/S transition of mitotic cell cycle | 82/8552 | 142/18723 | 2.49e-03 | 1.08e-02 | 82 |
| GO:190280613 | Esophagus | ESCC | regulation of cell cycle G1/S phase transition | 95/8552 | 168/18723 | 2.91e-03 | 1.22e-02 | 95 |
| GO:000975516 | Esophagus | ESCC | hormone-mediated signaling pathway | 106/8552 | 190/18723 | 3.13e-03 | 1.30e-02 | 106 |
| GO:00512592 | Esophagus | ESCC | protein complex oligomerization | 130/8552 | 238/18723 | 3.29e-03 | 1.36e-02 | 130 |
| GO:00302586 | Esophagus | ESCC | lipid modification | 116/8552 | 212/18723 | 4.90e-03 | 1.89e-02 | 116 |
| GO:01201624 | Esophagus | ESCC | positive regulation of cold-induced thermogenesis | 57/8552 | 97/18723 | 6.43e-03 | 2.35e-02 | 57 |
| GO:00069073 | Esophagus | ESCC | pinocytosis | 16/8552 | 22/18723 | 9.46e-03 | 3.28e-02 | 16 |
| GO:01061066 | Esophagus | ESCC | cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
| GO:01201616 | Esophagus | ESCC | regulation of cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
| GO:00192168 | Esophagus | ESCC | regulation of lipid metabolic process | 172/8552 | 331/18723 | 1.20e-02 | 4.02e-02 | 172 |
| GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
| GO:00713755 | Liver | NAFLD | cellular response to peptide hormone stimulus | 65/1882 | 290/18723 | 3.95e-10 | 9.62e-08 | 65 |
| GO:00193956 | Liver | NAFLD | fatty acid oxidation | 33/1882 | 103/18723 | 7.58e-10 | 1.53e-07 | 33 |
| GO:00344405 | Liver | NAFLD | lipid oxidation | 33/1882 | 108/18723 | 2.96e-09 | 4.56e-07 | 33 |
| GO:19016536 | Liver | NAFLD | cellular response to peptide | 71/1882 | 359/18723 | 1.82e-08 | 2.09e-06 | 71 |
| GO:00302585 | Liver | NAFLD | lipid modification | 49/1882 | 212/18723 | 1.97e-08 | 2.17e-06 | 49 |
| GO:00328695 | Liver | NAFLD | cellular response to insulin stimulus | 47/1882 | 203/18723 | 3.60e-08 | 3.63e-06 | 47 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| 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 |
| APPL2 | SNV | Missense_Mutation | rs141732009 | c.502N>A | p.Glu168Lys | p.E168K | Q8NEU8 | protein_coding | deleterious(0.01) | benign(0.225) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| APPL2 | SNV | Missense_Mutation | c.1737G>C | p.Lys579Asn | p.K579N | Q8NEU8 | protein_coding | tolerated(0.28) | benign(0.274) | TCGA-AN-A0XP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| APPL2 | SNV | Missense_Mutation | rs768320904 | c.331A>G | p.Met111Val | p.M111V | Q8NEU8 | protein_coding | tolerated(0.07) | probably_damaging(0.988) | TCGA-AR-A24O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD |
| APPL2 | SNV | Missense_Mutation | c.1191N>G | p.Asn397Lys | p.N397K | Q8NEU8 | protein_coding | deleterious(0.05) | possibly_damaging(0.773) | TCGA-AR-A24R-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD | |
| APPL2 | insertion | Nonsense_Mutation | novel | c.1940_1941insCCCCTGAACTTTTTTTTTCTTGCTTAGACTTTTTTGG | p.Leu648ProfsTer2 | p.L648Pfs*2 | Q8NEU8 | protein_coding | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| APPL2 | insertion | Frame_Shift_Ins | novel | c.210_211insA | p.Gln71ThrfsTer9 | p.Q71Tfs*9 | Q8NEU8 | protein_coding | TCGA-LL-A5YL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| APPL2 | SNV | Missense_Mutation | c.440N>C | p.Asp147Ala | p.D147A | Q8NEU8 | protein_coding | deleterious(0) | benign(0.418) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| APPL2 | SNV | Missense_Mutation | rs367929771 | c.1996G>A | p.Ala666Thr | p.A666T | Q8NEU8 | protein_coding | tolerated_low_confidence(0.38) | benign(0.005) | TCGA-AA-A029-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| APPL2 | SNV | Missense_Mutation | c.1432A>G | p.Asn478Asp | p.N478D | Q8NEU8 | protein_coding | deleterious(0.05) | probably_damaging(0.997) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| APPL2 | SNV | Missense_Mutation | rs772596522 | c.797N>G | p.Ser266Cys | p.S266C | Q8NEU8 | protein_coding | tolerated(0.17) | possibly_damaging(0.745) | TCGA-DM-A285-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 |
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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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