Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Cervix/APPL2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Becker/APPL2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Chen/APPL2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/APPL2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Liver/APPL2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0051170 | Colorectum | AD | import into nucleus | 53/3918 | 159/18723 | 1.76e-04 | 2.38e-03 | 53 |
GO:0006606 | Colorectum | AD | protein import into nucleus | 51/3918 | 155/18723 | 3.29e-04 | 3.86e-03 | 51 |
GO:0045807 | Colorectum | AD | positive regulation of endocytosis | 35/3918 | 100/18723 | 7.78e-04 | 7.78e-03 | 35 |
GO:0007178 | Colorectum | AD | transmembrane receptor protein serine/threonine kinase signaling pathway | 99/3918 | 355/18723 | 9.92e-04 | 9.28e-03 | 99 |
GO:0071559 | Colorectum | AD | response to transforming growth factor beta | 74/3918 | 256/18723 | 1.45e-03 | 1.23e-02 | 74 |
GO:0062012 | Colorectum | AD | regulation of small molecule metabolic process | 93/3918 | 334/18723 | 1.46e-03 | 1.24e-02 | 93 |
GO:0071560 | Colorectum | AD | cellular response to transforming growth factor beta stimulus | 72/3918 | 250/18723 | 1.85e-03 | 1.52e-02 | 72 |
GO:0007179 | Colorectum | AD | transforming growth factor beta receptor signaling pathway | 59/3918 | 198/18723 | 1.94e-03 | 1.58e-02 | 59 |
GO:0050767 | Colorectum | AD | regulation of neurogenesis | 99/3918 | 364/18723 | 2.35e-03 | 1.82e-02 | 99 |
GO:0120162 | Colorectum | AD | positive regulation of cold-induced thermogenesis | 32/3918 | 97/18723 | 3.74e-03 | 2.63e-02 | 32 |
GO:0007346 | Colorectum | AD | regulation of mitotic cell cycle | 119/3918 | 457/18723 | 4.60e-03 | 3.14e-02 | 119 |
GO:0106106 | Colorectum | AD | cold-induced thermogenesis | 43/3918 | 144/18723 | 7.05e-03 | 4.31e-02 | 43 |
GO:0120161 | Colorectum | AD | regulation of cold-induced thermogenesis | 43/3918 | 144/18723 | 7.05e-03 | 4.31e-02 | 43 |
GO:1990845 | Colorectum | AD | adaptive thermogenesis | 46/3918 | 157/18723 | 7.97e-03 | 4.73e-02 | 46 |
GO:00725941 | Colorectum | SER | establishment of protein localization to organelle | 111/2897 | 422/18723 | 4.98e-09 | 4.49e-07 | 111 |
GO:00069131 | Colorectum | SER | nucleocytoplasmic transport | 77/2897 | 301/18723 | 3.39e-06 | 1.32e-04 | 77 |
GO:00511691 | Colorectum | SER | nuclear transport | 77/2897 | 301/18723 | 3.39e-06 | 1.32e-04 | 77 |
GO:00345041 | Colorectum | SER | protein localization to nucleus | 74/2897 | 290/18723 | 5.74e-06 | 2.05e-04 | 74 |
GO:00316671 | Colorectum | SER | response to nutrient levels | 106/2897 | 474/18723 | 3.94e-05 | 1.00e-03 | 106 |
GO:00328681 | Colorectum | SER | response to insulin | 65/2897 | 264/18723 | 6.70e-05 | 1.53e-03 | 65 |
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 |