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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:20001781 | Cervix | HSIL_HPV | negative regulation of neural precursor cell proliferation | 5/737 | 21/18723 | 1.12e-03 | 1.36e-02 | 5 |
| GO:007155913 | Cervix | HSIL_HPV | response to transforming growth factor beta | 21/737 | 256/18723 | 1.26e-03 | 1.48e-02 | 21 |
| GO:0060100 | Cervix | HSIL_HPV | positive regulation of phagocytosis, engulfment | 4/737 | 13/18723 | 1.28e-03 | 1.48e-02 | 4 |
| GO:1905155 | Cervix | HSIL_HPV | positive regulation of membrane invagination | 4/737 | 13/18723 | 1.28e-03 | 1.48e-02 | 4 |
| GO:00024311 | Cervix | HSIL_HPV | Fc receptor mediated stimulatory signaling pathway | 6/737 | 33/18723 | 1.63e-03 | 1.77e-02 | 6 |
| GO:000717813 | Cervix | HSIL_HPV | transmembrane receptor protein serine/threonine kinase signaling pathway | 26/737 | 355/18723 | 1.86e-03 | 1.97e-02 | 26 |
| GO:190165313 | Cervix | HSIL_HPV | cellular response to peptide | 26/737 | 359/18723 | 2.17e-03 | 2.20e-02 | 26 |
| GO:003166715 | Cervix | HSIL_HPV | response to nutrient levels | 32/737 | 474/18723 | 2.22e-03 | 2.25e-02 | 32 |
| GO:0060099 | Cervix | HSIL_HPV | regulation of phagocytosis, engulfment | 4/737 | 15/18723 | 2.30e-03 | 2.28e-02 | 4 |
| GO:000283111 | Cervix | HSIL_HPV | regulation of response to biotic stimulus | 24/737 | 327/18723 | 2.65e-03 | 2.55e-02 | 24 |
| GO:007259414 | Cervix | HSIL_HPV | establishment of protein localization to organelle | 29/737 | 422/18723 | 2.71e-03 | 2.58e-02 | 29 |
| GO:006220711 | Cervix | HSIL_HPV | regulation of pattern recognition receptor signaling pathway | 11/737 | 105/18723 | 2.82e-03 | 2.67e-02 | 11 |
| GO:1905153 | Cervix | HSIL_HPV | regulation of membrane invagination | 4/737 | 16/18723 | 2.97e-03 | 2.76e-02 | 4 |
| GO:004343415 | Cervix | HSIL_HPV | response to peptide hormone | 28/737 | 414/18723 | 3.96e-03 | 3.43e-02 | 28 |
| GO:0001818 | Cervix | HSIL_HPV | negative regulation of cytokine production | 25/737 | 357/18723 | 4.05e-03 | 3.47e-02 | 25 |
| GO:00380941 | Cervix | HSIL_HPV | Fc-gamma receptor signaling pathway | 5/737 | 28/18723 | 4.31e-03 | 3.65e-02 | 5 |
| GO:003450412 | Cervix | HSIL_HPV | protein localization to nucleus | 21/737 | 290/18723 | 5.53e-03 | 4.45e-02 | 21 |
| GO:004580714 | Cervix | HSIL_HPV | positive regulation of endocytosis | 10/737 | 100/18723 | 6.00e-03 | 4.72e-02 | 10 |
| GO:003414211 | Cervix | HSIL_HPV | toll-like receptor 4 signaling pathway | 6/737 | 43/18723 | 6.42e-03 | 4.97e-02 | 6 |
| GO:0072594 | Colorectum | AD | establishment of protein localization to organelle | 148/3918 | 422/18723 | 7.95e-12 | 1.04e-09 | 148 |
| 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 |
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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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