Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![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/Endometrium/ASXL1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/ASXL1_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/ASXL1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/ASXL1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | ![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/OralCavity/ASXL1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/ASXL1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![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/Skin/ASXL1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![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/Thyroid/ASXL1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003052210 | Endometrium | AEH | intracellular receptor signaling pathway | 60/2100 | 265/18723 | 7.16e-08 | 3.77e-06 | 60 |
GO:004873216 | Endometrium | AEH | gland development | 83/2100 | 436/18723 | 8.62e-07 | 3.11e-05 | 83 |
GO:00016556 | Endometrium | AEH | urogenital system development | 67/2100 | 338/18723 | 2.30e-06 | 6.76e-05 | 67 |
GO:00720015 | Endometrium | AEH | renal system development | 61/2100 | 302/18723 | 3.43e-06 | 9.24e-05 | 61 |
GO:00018224 | Endometrium | AEH | kidney development | 57/2100 | 293/18723 | 2.25e-05 | 4.35e-04 | 57 |
GO:004887216 | Endometrium | AEH | homeostasis of number of cells | 53/2100 | 272/18723 | 4.10e-05 | 6.99e-04 | 53 |
GO:00609932 | Endometrium | AEH | kidney morphogenesis | 24/2100 | 93/18723 | 6.73e-05 | 1.04e-03 | 24 |
GO:005123510 | Endometrium | AEH | maintenance of location | 60/2100 | 327/18723 | 8.19e-05 | 1.22e-03 | 60 |
GO:000206415 | Endometrium | AEH | epithelial cell development | 43/2100 | 220/18723 | 1.94e-04 | 2.48e-03 | 43 |
GO:00720736 | Endometrium | AEH | kidney epithelium development | 29/2100 | 136/18723 | 4.71e-04 | 4.91e-03 | 29 |
GO:00030072 | Endometrium | AEH | heart morphogenesis | 45/2100 | 246/18723 | 6.41e-04 | 6.23e-03 | 45 |
GO:00720093 | Endometrium | AEH | nephron epithelium development | 24/2100 | 109/18723 | 8.69e-04 | 8.03e-03 | 24 |
GO:00720064 | Endometrium | AEH | nephron development | 29/2100 | 142/18723 | 9.80e-04 | 8.89e-03 | 29 |
GO:00610052 | Endometrium | AEH | cell differentiation involved in kidney development | 15/2100 | 57/18723 | 1.20e-03 | 1.04e-02 | 15 |
GO:00483842 | Endometrium | AEH | retinoic acid receptor signaling pathway | 10/2100 | 31/18723 | 1.48e-03 | 1.23e-02 | 10 |
GO:00358504 | Endometrium | AEH | epithelial cell differentiation involved in kidney development | 13/2100 | 47/18723 | 1.53e-03 | 1.26e-02 | 13 |
GO:00605414 | Endometrium | AEH | respiratory system development | 37/2100 | 203/18723 | 1.97e-03 | 1.54e-02 | 37 |
GO:00303246 | Endometrium | AEH | lung development | 33/2100 | 177/18723 | 2.30e-03 | 1.74e-02 | 33 |
GO:00303236 | Endometrium | AEH | respiratory tube development | 33/2100 | 181/18723 | 3.33e-03 | 2.32e-02 | 33 |
GO:00483852 | Endometrium | AEH | regulation of retinoic acid receptor signaling pathway | 6/2100 | 16/18723 | 5.84e-03 | 3.55e-02 | 6 |
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 |
ASXL1 | SNV | Missense_Mutation | rs764414702 | c.1759G>T | p.Gly587Cys | p.G587C | Q8IXJ9 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
ASXL1 | SNV | Missense_Mutation | rs147456014 | c.4099G>A | p.Val1367Ile | p.V1367I | Q8IXJ9 | protein_coding | tolerated(1) | benign(0) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
ASXL1 | SNV | Missense_Mutation | novel | c.960N>C | p.Trp320Cys | p.W320C | Q8IXJ9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ASXL1 | SNV | Missense_Mutation | rs576523117 | c.686N>T | p.Pro229Leu | p.P229L | Q8IXJ9 | protein_coding | deleterious(0.05) | probably_damaging(0.965) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ASXL1 | SNV | Missense_Mutation | | c.472G>A | p.Ala158Thr | p.A158T | Q8IXJ9 | protein_coding | tolerated(0.61) | benign(0.065) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ASXL1 | SNV | Missense_Mutation | | c.3626G>A | p.Ser1209Asn | p.S1209N | Q8IXJ9 | protein_coding | tolerated(0.48) | benign(0.018) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ASXL1 | SNV | Missense_Mutation | novel | c.2684N>A | p.Ser895Tyr | p.S895Y | Q8IXJ9 | protein_coding | deleterious_low_confidence(0) | benign(0.269) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ASXL1 | SNV | Missense_Mutation | novel | c.793N>A | p.Arg265Ser | p.R265S | Q8IXJ9 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ASXL1 | SNV | Missense_Mutation | | c.163T>A | p.Cys55Ser | p.C55S | Q8IXJ9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASXL1 | SNV | Missense_Mutation | novel | c.1825A>G | p.Thr609Ala | p.T609A | Q8IXJ9 | protein_coding | tolerated(0.08) | benign(0.044) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |