Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/INSIG2_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/INSIG2_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/INSIG2_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/INSIG2_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/INSIG2_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:00451859 | Breast | Precancer | maintenance of protein location | 19/1080 | 94/18723 | 1.43e-06 | 5.35e-05 | 19 |
GO:00512358 | Breast | Precancer | maintenance of location | 40/1080 | 327/18723 | 5.85e-06 | 1.71e-04 | 40 |
GO:00516519 | Breast | Precancer | maintenance of location in cell | 30/1080 | 214/18723 | 5.91e-06 | 1.71e-04 | 30 |
GO:00325076 | Breast | Precancer | maintenance of protein location in cell | 14/1080 | 65/18723 | 1.59e-05 | 3.89e-04 | 14 |
GO:00709725 | Breast | Precancer | protein localization to endoplasmic reticulum | 15/1080 | 74/18723 | 1.74e-05 | 4.17e-04 | 15 |
GO:00725954 | Breast | Precancer | maintenance of protein localization in organelle | 10/1080 | 42/18723 | 1.06e-04 | 1.93e-03 | 10 |
GO:00192164 | Breast | Precancer | regulation of lipid metabolic process | 34/1080 | 331/18723 | 8.14e-04 | 9.55e-03 | 34 |
GO:00463946 | Breast | Precancer | carboxylic acid biosynthetic process | 32/1080 | 314/18723 | 1.30e-03 | 1.38e-02 | 32 |
GO:00723304 | Breast | Precancer | monocarboxylic acid biosynthetic process | 24/1080 | 214/18723 | 1.41e-03 | 1.48e-02 | 24 |
GO:00160536 | Breast | Precancer | organic acid biosynthetic process | 32/1080 | 316/18723 | 1.44e-03 | 1.50e-02 | 32 |
GO:00066335 | Breast | Precancer | fatty acid biosynthetic process | 19/1080 | 163/18723 | 2.74e-03 | 2.42e-02 | 19 |
GO:00620126 | Breast | Precancer | regulation of small molecule metabolic process | 32/1080 | 334/18723 | 3.45e-03 | 2.87e-02 | 32 |
GO:00069845 | Breast | Precancer | ER-nucleus signaling pathway | 8/1080 | 46/18723 | 4.40e-03 | 3.43e-02 | 8 |
GO:00423044 | Breast | Precancer | regulation of fatty acid biosynthetic process | 8/1080 | 49/18723 | 6.53e-03 | 4.51e-02 | 8 |
GO:00354373 | Breast | Precancer | maintenance of protein localization in endoplasmic reticulum | 4/1080 | 14/18723 | 6.92e-03 | 4.67e-02 | 4 |
GO:005165114 | Breast | IDC | maintenance of location in cell | 37/1434 | 214/18723 | 2.39e-06 | 9.35e-05 | 37 |
GO:004518514 | Breast | IDC | maintenance of protein location | 21/1434 | 94/18723 | 6.69e-06 | 2.05e-04 | 21 |
GO:007097213 | Breast | IDC | protein localization to endoplasmic reticulum | 18/1434 | 74/18723 | 8.58e-06 | 2.47e-04 | 18 |
GO:005123513 | Breast | IDC | maintenance of location | 48/1434 | 327/18723 | 9.90e-06 | 2.77e-04 | 48 |
GO:003250714 | Breast | IDC | maintenance of protein location in cell | 16/1434 | 65/18723 | 2.29e-05 | 5.51e-04 | 16 |
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 |
INSIG2 | SNV | Missense_Mutation | rs758358013 | c.382G>A | p.Asp128Asn | p.D128N | Q9Y5U4 | protein_coding | deleterious(0.04) | benign(0.083) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
INSIG2 | SNV | Missense_Mutation | | c.565N>T | p.Arg189Cys | p.R189C | Q9Y5U4 | protein_coding | deleterious(0) | benign(0.007) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
INSIG2 | SNV | Missense_Mutation | novel | c.449N>T | p.Arg150Ile | p.R150I | Q9Y5U4 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
INSIG2 | SNV | Missense_Mutation | rs568055123 | c.230G>A | p.Cys77Tyr | p.C77Y | Q9Y5U4 | protein_coding | deleterious(0.05) | probably_damaging(0.995) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
INSIG2 | insertion | Frame_Shift_Ins | novel | c.105_106insT | p.Ile38TyrfsTer24 | p.I38Yfs*24 | Q9Y5U4 | protein_coding | | | TCGA-D1-A167-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
INSIG2 | SNV | Missense_Mutation | novel | c.653T>A | p.Ile218Asn | p.I218N | Q9Y5U4 | protein_coding | deleterious_low_confidence(0.01) | benign(0.003) | TCGA-ED-A97K-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
INSIG2 | SNV | Missense_Mutation | | c.287N>C | p.Gly96Ala | p.G96A | Q9Y5U4 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-50-6592-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
INSIG2 | SNV | Missense_Mutation | novel | c.11N>T | p.Gly4Val | p.G4V | Q9Y5U4 | protein_coding | tolerated_low_confidence(0.31) | benign(0) | TCGA-69-7979-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
INSIG2 | SNV | Missense_Mutation | | c.25C>T | p.Pro9Ser | p.P9S | Q9Y5U4 | protein_coding | tolerated_low_confidence(0.52) | benign(0) | TCGA-75-5146-01 | Lung | lung adenocarcinoma | Male | Unknown | I/II | Unknown | Unknown | PD |
INSIG2 | SNV | Missense_Mutation | | c.424A>G | p.Ile142Val | p.I142V | Q9Y5U4 | protein_coding | tolerated(0.39) | benign(0) | TCGA-91-6829-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |