Tissue | Expression Dynamics | Abbreviation |
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/INSIG1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/INSIG1_pca_on_diff_genes.png) | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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/INSIG1_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/INSIG1_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/INSIG1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00512352 | Stomach | CSG | maintenance of location | 37/1034 | 327/18723 | 2.84e-05 | 8.08e-04 | 37 |
GO:005165121 | Stomach | CSG | maintenance of location in cell | 27/1034 | 214/18723 | 5.28e-05 | 1.35e-03 | 27 |
GO:00451852 | Stomach | CSG | maintenance of protein location | 14/1034 | 94/18723 | 6.28e-04 | 9.02e-03 | 14 |
GO:00066332 | Stomach | CSG | fatty acid biosynthetic process | 19/1034 | 163/18723 | 1.68e-03 | 1.85e-02 | 19 |
GO:00463942 | Stomach | CSG | carboxylic acid biosynthetic process | 30/1034 | 314/18723 | 2.52e-03 | 2.46e-02 | 30 |
GO:004343421 | Stomach | CSG | response to peptide hormone | 37/1034 | 414/18723 | 2.75e-03 | 2.62e-02 | 37 |
GO:00160532 | Stomach | CSG | organic acid biosynthetic process | 30/1034 | 316/18723 | 2.77e-03 | 2.63e-02 | 30 |
GO:006201221 | Stomach | CSG | regulation of small molecule metabolic process | 30/1034 | 334/18723 | 6.13e-03 | 4.77e-02 | 30 |
GO:005165131 | Stomach | CAG | maintenance of location in cell | 18/552 | 214/18723 | 6.79e-05 | 1.89e-03 | 18 |
GO:00512353 | Stomach | CAG | maintenance of location | 23/552 | 327/18723 | 1.15e-04 | 2.85e-03 | 23 |
GO:00451853 | Stomach | CAG | maintenance of protein location | 10/552 | 94/18723 | 4.49e-04 | 7.68e-03 | 10 |
GO:00325073 | Stomach | CAG | maintenance of protein location in cell | 8/552 | 65/18723 | 6.25e-04 | 1.02e-02 | 8 |
GO:0072595 | Stomach | CAG | maintenance of protein localization in organelle | 6/552 | 42/18723 | 1.36e-03 | 1.75e-02 | 6 |
GO:00709723 | Stomach | CAG | protein localization to endoplasmic reticulum | 8/552 | 74/18723 | 1.48e-03 | 1.83e-02 | 8 |
GO:00069006 | Stomach | CAG | vesicle budding from membrane | 7/552 | 61/18723 | 2.05e-03 | 2.32e-02 | 7 |
GO:19038284 | Stomach | CAG | negative regulation of cellular protein localization | 10/552 | 117/18723 | 2.43e-03 | 2.61e-02 | 10 |
GO:1904950 | Stomach | CAG | negative regulation of establishment of protein localization | 10/552 | 131/18723 | 5.46e-03 | 4.55e-02 | 10 |
GO:00512354 | Stomach | WIM | maintenance of location | 20/426 | 327/18723 | 6.52e-05 | 1.93e-03 | 20 |
GO:00451854 | Stomach | WIM | maintenance of protein location | 9/426 | 94/18723 | 2.90e-04 | 6.11e-03 | 9 |
GO:005165141 | Stomach | WIM | maintenance of location in cell | 14/426 | 214/18723 | 4.08e-04 | 7.78e-03 | 14 |
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 |
INSIG1 | SNV | Missense_Mutation | novel | c.698N>A | p.Val233Asp | p.V233D | O15503 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
INSIG1 | deletion | In_Frame_Del | | c.776_778delTGG | p.Val259del | p.V259del | O15503 | protein_coding | | | TCGA-A8-A07W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
INSIG1 | SNV | Missense_Mutation | | c.108G>C | p.Glu36Asp | p.E36D | O15503 | protein_coding | tolerated_low_confidence(0.18) | benign(0) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
INSIG1 | SNV | Missense_Mutation | novel | c.349N>A | p.Glu117Lys | p.E117K | O15503 | protein_coding | tolerated(0.1) | probably_damaging(0.996) | TCGA-VS-A9V0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
INSIG1 | SNV | Missense_Mutation | rs780785188 | c.769N>A | p.Val257Ile | p.V257I | O15503 | protein_coding | tolerated(0.38) | probably_damaging(0.995) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
INSIG1 | deletion | In_Frame_Del | novel | c.276_278delNNN | p.Phe92_Ser93delinsLeu | p.F92_S93delinsL | O15503 | protein_coding | | | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
INSIG1 | SNV | Missense_Mutation | novel | c.737N>A | p.Ser246Tyr | p.S246Y | O15503 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
INSIG1 | SNV | Missense_Mutation | novel | c.757T>G | p.Phe253Val | p.F253V | O15503 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
INSIG1 | SNV | Missense_Mutation | novel | c.409N>A | p.Ala137Thr | p.A137T | O15503 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
INSIG1 | SNV | Missense_Mutation | novel | c.293N>G | p.Leu98Arg | p.L98R | O15503 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |