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:00075698 | Oral cavity | OSCC | cell aging | 73/7305 | 132/18723 | 1.05e-04 | 7.75e-04 | 73 |
GO:0010972 | Oral cavity | OSCC | negative regulation of G2/M transition of mitotic cell cycle | 38/7305 | 60/18723 | 1.17e-04 | 8.46e-04 | 38 |
GO:1902750 | Oral cavity | OSCC | negative regulation of cell cycle G2/M phase transition | 39/7305 | 62/18723 | 1.19e-04 | 8.54e-04 | 39 |
GO:00517029 | Oral cavity | OSCC | biological process involved in interaction with symbiont | 54/7305 | 94/18723 | 2.20e-04 | 1.44e-03 | 54 |
GO:00400294 | Oral cavity | OSCC | regulation of gene expression, epigenetic | 59/7305 | 105/18723 | 2.62e-04 | 1.68e-03 | 59 |
GO:00331437 | Oral cavity | OSCC | regulation of intracellular steroid hormone receptor signaling pathway | 44/7305 | 74/18723 | 2.89e-04 | 1.82e-03 | 44 |
GO:003051816 | Oral cavity | OSCC | intracellular steroid hormone receptor signaling pathway | 64/7305 | 116/18723 | 2.96e-04 | 1.86e-03 | 64 |
GO:00017063 | Oral cavity | OSCC | endoderm formation | 34/7305 | 54/18723 | 3.12e-04 | 1.94e-03 | 34 |
GO:00073697 | Oral cavity | OSCC | gastrulation | 95/7305 | 185/18723 | 4.17e-04 | 2.54e-03 | 95 |
GO:00439223 | Oral cavity | OSCC | negative regulation by host of viral transcription | 12/7305 | 14/18723 | 4.62e-04 | 2.76e-03 | 12 |
GO:00062842 | Oral cavity | OSCC | base-excision repair | 28/7305 | 43/18723 | 4.71e-04 | 2.79e-03 | 28 |
GO:00018377 | Oral cavity | OSCC | epithelial to mesenchymal transition | 82/7305 | 157/18723 | 5.09e-04 | 2.98e-03 | 82 |
GO:005110120 | Oral cavity | OSCC | regulation of DNA binding | 64/7305 | 118/18723 | 5.53e-04 | 3.21e-03 | 64 |
GO:00017043 | Oral cavity | OSCC | formation of primary germ layer | 65/7305 | 121/18723 | 7.08e-04 | 3.90e-03 | 65 |
GO:20007792 | Oral cavity | OSCC | regulation of double-strand break repair | 48/7305 | 85/18723 | 8.14e-04 | 4.35e-03 | 48 |
GO:00427696 | Oral cavity | OSCC | DNA damage response, detection of DNA damage | 11/7305 | 13/18723 | 1.02e-03 | 5.29e-03 | 11 |
GO:000632510 | Oral cavity | OSCC | chromatin organization | 190/7305 | 409/18723 | 1.17e-03 | 5.97e-03 | 190 |
GO:00101652 | Oral cavity | OSCC | response to X-ray | 22/7305 | 33/18723 | 1.19e-03 | 6.03e-03 | 22 |
GO:00359872 | Oral cavity | OSCC | endodermal cell differentiation | 28/7305 | 45/18723 | 1.36e-03 | 6.62e-03 | 28 |
GO:0044818 | Oral cavity | OSCC | mitotic G2/M transition checkpoint | 28/7305 | 46/18723 | 2.19e-03 | 9.95e-03 | 28 |
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 |