Tissue | Expression Dynamics | Abbreviation |
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/HMGA2_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/HMGA2_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/HMGA2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/HMGA2_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/HMGA2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/HMGA2_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:00719003 | Colorectum | FAP | regulation of protein serine/threonine kinase activity | 78/2622 | 359/18723 | 3.99e-05 | 8.48e-04 | 78 |
GO:00182092 | Colorectum | FAP | peptidyl-serine modification | 73/2622 | 338/18723 | 8.47e-05 | 1.51e-03 | 73 |
GO:00165701 | Colorectum | FAP | histone modification | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
GO:20010204 | Colorectum | FAP | regulation of response to DNA damage stimulus | 51/2622 | 219/18723 | 1.40e-04 | 2.21e-03 | 51 |
GO:00063253 | Colorectum | FAP | chromatin organization | 84/2622 | 409/18723 | 1.62e-04 | 2.47e-03 | 84 |
GO:0019827 | Colorectum | FAP | stem cell population maintenance | 33/2622 | 131/18723 | 4.61e-04 | 5.39e-03 | 33 |
GO:00487621 | Colorectum | FAP | mesenchymal cell differentiation | 52/2622 | 236/18723 | 5.08e-04 | 5.80e-03 | 52 |
GO:00507924 | Colorectum | FAP | regulation of viral process | 39/2622 | 164/18723 | 5.21e-04 | 5.91e-03 | 39 |
GO:0098727 | Colorectum | FAP | maintenance of cell number | 33/2622 | 134/18723 | 7.09e-04 | 7.64e-03 | 33 |
GO:00458604 | Colorectum | FAP | positive regulation of protein kinase activity | 77/2622 | 386/18723 | 7.31e-04 | 7.81e-03 | 77 |
GO:00719022 | Colorectum | FAP | positive regulation of protein serine/threonine kinase activity | 45/2622 | 200/18723 | 7.36e-04 | 7.83e-03 | 45 |
GO:00075682 | Colorectum | FAP | aging | 69/2622 | 339/18723 | 7.66e-04 | 8.12e-03 | 69 |
GO:00062822 | Colorectum | FAP | regulation of DNA repair | 32/2622 | 130/18723 | 8.53e-04 | 8.79e-03 | 32 |
GO:00073692 | Colorectum | FAP | gastrulation | 42/2622 | 185/18723 | 8.97e-04 | 9.10e-03 | 42 |
GO:20010222 | Colorectum | FAP | positive regulation of response to DNA damage stimulus | 27/2622 | 105/18723 | 1.04e-03 | 1.02e-02 | 27 |
GO:19039004 | Colorectum | FAP | regulation of viral life cycle | 35/2622 | 148/18723 | 1.09e-03 | 1.05e-02 | 35 |
GO:00450693 | Colorectum | FAP | regulation of viral genome replication | 23/2622 | 85/18723 | 1.14e-03 | 1.09e-02 | 23 |
GO:00336744 | Colorectum | FAP | positive regulation of kinase activity | 89/2622 | 467/18723 | 1.33e-03 | 1.22e-02 | 89 |
GO:00331443 | Colorectum | FAP | negative regulation of intracellular steroid hormone receptor signaling pathway | 13/2622 | 38/18723 | 1.36e-03 | 1.24e-02 | 13 |
GO:00714813 | Colorectum | FAP | cellular response to X-ray | 7/2622 | 14/18723 | 1.45e-03 | 1.31e-02 | 7 |
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 |
HMGA2 | SNV | Missense_Mutation | novel | c.421N>C | p.Ser141Pro | p.S141P | | protein_coding | deleterious_low_confidence(0.01) | benign(0.346) | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.319N>A | p.Glu107Lys | p.E107K | P52926 | protein_coding | deleterious(0.01) | possibly_damaging(0.905) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.310N>A | p.Glu104Lys | p.E104K | P52926 | protein_coding | tolerated(0.27) | possibly_damaging(0.899) | TCGA-Q1-A5R2-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PR |
HMGA2 | deletion | Frame_Shift_Del | | c.*4delG | | | P52926 | protein_coding | | | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | | c.140G>A | p.Arg47Lys | p.R47K | | protein_coding | tolerated_low_confidence(0.08) | probably_damaging(0.937) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.230G>A | p.Arg77Lys | p.R77K | | protein_coding | tolerated(0.09) | probably_damaging(0.937) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.397G>A | p.Val133Ile | p.V133I | | protein_coding | tolerated_low_confidence(0.13) | benign(0.279) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.146G>T | p.Arg49Met | p.R49M | | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.992) | TCGA-44-6145-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | | c.199N>G | p.Lys67Glu | p.K67E | | protein_coding | tolerated(0.09) | probably_damaging(0.979) | TCGA-69-7764-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.410N>T | p.Trp137Leu | p.W137L | | protein_coding | deleterious_low_confidence(0.01) | benign(0.155) | TCGA-78-7158-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |