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/ASPM_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/ASPM_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/ASPM_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/ASPM_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/ASPM_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/ASPM_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:00513026 | Skin | cSCC | regulation of cell division | 61/4864 | 177/18723 | 7.34e-03 | 3.47e-02 | 61 |
GO:005165128 | Skin | cSCC | maintenance of location in cell | 72/4864 | 214/18723 | 7.37e-03 | 3.47e-02 | 72 |
GO:005196213 | Skin | cSCC | positive regulation of nervous system development | 88/4864 | 272/18723 | 1.07e-02 | 4.66e-02 | 88 |
GO:001605525 | Thyroid | ATC | Wnt signaling pathway | 234/6293 | 444/18723 | 4.64e-17 | 4.31e-15 | 234 |
GO:019873825 | Thyroid | ATC | cell-cell signaling by wnt | 234/6293 | 446/18723 | 9.26e-17 | 8.25e-15 | 234 |
GO:003011125 | Thyroid | ATC | regulation of Wnt signaling pathway | 177/6293 | 328/18723 | 1.83e-14 | 1.05e-12 | 177 |
GO:000705122 | Thyroid | ATC | spindle organization | 109/6293 | 184/18723 | 7.99e-13 | 3.46e-11 | 109 |
GO:006082825 | Thyroid | ATC | regulation of canonical Wnt signaling pathway | 134/6293 | 253/18723 | 1.49e-10 | 4.56e-09 | 134 |
GO:006007025 | Thyroid | ATC | canonical Wnt signaling pathway | 154/6293 | 303/18723 | 3.68e-10 | 1.02e-08 | 154 |
GO:004828512 | Thyroid | ATC | organelle fission | 229/6293 | 488/18723 | 4.79e-10 | 1.29e-08 | 229 |
GO:000028011 | Thyroid | ATC | nuclear division | 207/6293 | 439/18723 | 1.98e-09 | 4.80e-08 | 207 |
GO:0030177110 | Thyroid | ATC | positive regulation of Wnt signaling pathway | 80/6293 | 140/18723 | 8.75e-09 | 1.86e-07 | 80 |
GO:001072022 | Thyroid | ATC | positive regulation of cell development | 146/6293 | 298/18723 | 2.36e-08 | 4.56e-07 | 146 |
GO:0090263110 | Thyroid | ATC | positive regulation of canonical Wnt signaling pathway | 62/6293 | 106/18723 | 1.26e-07 | 2.09e-06 | 62 |
GO:005122521 | Thyroid | ATC | spindle assembly | 66/6293 | 117/18723 | 3.28e-07 | 4.88e-06 | 66 |
GO:006145827 | Thyroid | ATC | reproductive system development | 193/6293 | 427/18723 | 3.32e-07 | 4.92e-06 | 193 |
GO:005076922 | Thyroid | ATC | positive regulation of neurogenesis | 112/6293 | 225/18723 | 3.53e-07 | 5.21e-06 | 112 |
GO:005076723 | Thyroid | ATC | regulation of neurogenesis | 168/6293 | 364/18723 | 3.73e-07 | 5.48e-06 | 168 |
GO:005123532 | Thyroid | ATC | maintenance of location | 152/6293 | 327/18723 | 7.84e-07 | 1.04e-05 | 152 |
GO:004860825 | Thyroid | ATC | reproductive structure development | 190/6293 | 424/18723 | 8.40e-07 | 1.11e-05 | 190 |
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 |
ASPM | SNV | Missense_Mutation | novel | c.874N>A | p.Glu292Lys | p.E292K | Q8IZT6 | protein_coding | tolerated(0.27) | benign(0.001) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ASPM | SNV | Missense_Mutation | novel | c.5458N>A | p.Leu1820Ile | p.L1820I | Q8IZT6 | protein_coding | tolerated(0.42) | benign(0.066) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
ASPM | SNV | Missense_Mutation | rs200848981 | c.6551G>A | p.Arg2184Gln | p.R2184Q | Q8IZT6 | protein_coding | tolerated(1) | benign(0) | TCGA-A2-A0SY-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | arimidex | SD |
ASPM | SNV | Missense_Mutation | | c.2498G>A | p.Gly833Glu | p.G833E | Q8IZT6 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
ASPM | SNV | Missense_Mutation | novel | c.1940N>G | p.Thr647Ser | p.T647S | Q8IZT6 | protein_coding | tolerated(0.15) | benign(0.006) | TCGA-A2-A3XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | PD |
ASPM | SNV | Missense_Mutation | | c.8884N>G | p.Gln2962Glu | p.Q2962E | Q8IZT6 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-A8-A09I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
ASPM | SNV | Missense_Mutation | | c.8811N>G | p.Ile2937Met | p.I2937M | Q8IZT6 | protein_coding | deleterious(0.01) | probably_damaging(0.959) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ASPM | SNV | Missense_Mutation | | c.9061C>G | p.His3021Asp | p.H3021D | Q8IZT6 | protein_coding | tolerated(0.24) | benign(0.316) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ASPM | SNV | Missense_Mutation | | c.8791G>C | p.Glu2931Gln | p.E2931Q | Q8IZT6 | protein_coding | tolerated(0.18) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ASPM | SNV | Missense_Mutation | | c.2942C>A | p.Thr981Asn | p.T981N | Q8IZT6 | protein_coding | deleterious(0) | possibly_damaging(0.567) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |