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/ASXL2_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/ASXL2_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/ASXL2_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/ASXL2_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/ASXL2_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:00512359 | Cervix | CC | maintenance of location | 78/2311 | 327/18723 | 5.18e-09 | 4.92e-07 | 78 |
GO:00305229 | Cervix | CC | intracellular receptor signaling pathway | 60/2311 | 265/18723 | 1.89e-06 | 5.97e-05 | 60 |
GO:00454445 | Cervix | CC | fat cell differentiation | 53/2311 | 229/18723 | 3.72e-06 | 9.75e-05 | 53 |
GO:0045598 | Cervix | CC | regulation of fat cell differentiation | 31/2311 | 139/18723 | 7.06e-04 | 6.41e-03 | 31 |
GO:00456004 | Cervix | CC | positive regulation of fat cell differentiation | 18/2311 | 66/18723 | 8.09e-04 | 7.07e-03 | 18 |
GO:00108834 | Cervix | CC | regulation of lipid storage | 15/2311 | 57/18723 | 3.13e-03 | 2.05e-02 | 15 |
GO:0030522 | Colorectum | AD | intracellular receptor signaling pathway | 87/3918 | 265/18723 | 3.69e-06 | 1.03e-04 | 87 |
GO:0010876 | Colorectum | AD | lipid localization | 120/3918 | 448/18723 | 1.59e-03 | 1.33e-02 | 120 |
GO:00305223 | Colorectum | FAP | intracellular receptor signaling pathway | 67/2622 | 265/18723 | 6.84e-07 | 3.28e-05 | 67 |
GO:00108762 | Colorectum | FAP | lipid localization | 85/2622 | 448/18723 | 1.92e-03 | 1.63e-02 | 85 |
GO:00305224 | Colorectum | CRC | intracellular receptor signaling pathway | 61/2078 | 265/18723 | 2.00e-08 | 3.23e-06 | 61 |
GO:00108763 | Colorectum | CRC | lipid localization | 68/2078 | 448/18723 | 4.60e-03 | 3.58e-02 | 68 |
GO:0030522110 | Esophagus | ESCC | intracellular receptor signaling pathway | 170/8552 | 265/18723 | 8.58e-10 | 2.09e-08 | 170 |
GO:0051235110 | Esophagus | ESCC | maintenance of location | 200/8552 | 327/18723 | 1.01e-08 | 2.02e-07 | 200 |
GO:00454449 | Esophagus | ESCC | fat cell differentiation | 135/8552 | 229/18723 | 3.38e-05 | 2.78e-04 | 135 |
GO:00199155 | Esophagus | ESCC | lipid storage | 58/8552 | 87/18723 | 6.15e-05 | 4.72e-04 | 58 |
GO:00456007 | Esophagus | ESCC | positive regulation of fat cell differentiation | 46/8552 | 66/18723 | 6.72e-05 | 5.11e-04 | 46 |
GO:00455984 | Esophagus | ESCC | regulation of fat cell differentiation | 79/8552 | 139/18723 | 5.23e-03 | 1.97e-02 | 79 |
GO:00108836 | Esophagus | ESCC | regulation of lipid storage | 36/8552 | 57/18723 | 5.87e-03 | 2.17e-02 | 36 |
GO:00305226 | Liver | NAFLD | intracellular receptor signaling pathway | 55/1882 | 265/18723 | 1.39e-07 | 1.03e-05 | 55 |
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 |
ASXL2 | SNV | Missense_Mutation | | c.221N>T | p.Ser74Leu | p.S74L | Q76L83 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
ASXL2 | SNV | Missense_Mutation | rs374101562 | c.1246N>A | p.Ala416Thr | p.A416T | Q76L83 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ASXL2 | SNV | Missense_Mutation | novel | c.1211N>T | p.Ala404Val | p.A404V | Q76L83 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A7-A13E-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | bevacizumab | PD |
ASXL2 | SNV | Missense_Mutation | | c.208N>A | p.Glu70Lys | p.E70K | Q76L83 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ASXL2 | SNV | Missense_Mutation | | c.964N>C | p.Glu322Gln | p.E322Q | Q76L83 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
ASXL2 | SNV | Missense_Mutation | | c.229N>G | p.Gln77Glu | p.Q77E | | protein_coding | tolerated(0.22) | benign(0.444) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
ASXL2 | SNV | Missense_Mutation | | c.1333G>T | p.Gly445Cys | p.G445C | Q76L83 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.694) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASXL2 | SNV | Missense_Mutation | | c.1195N>A | p.Asp399Asn | p.D399N | Q76L83 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A1F0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ASXL2 | SNV | Missense_Mutation | novel | c.1546N>C | p.Thr516Pro | p.T516P | Q76L83 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.563) | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASXL2 | SNV | Missense_Mutation | | c.41C>T | p.Pro14Leu | p.P14L | Q76L83 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A1L9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |