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/EXT1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/EXT1_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/EXT1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/EXT1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/EXT1_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/EXT1_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/EXT1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/EXT1_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/EXT1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/EXT1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/EXT1_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/EXT1_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:004858821 | Lung | MIAC | developmental cell growth | 25/967 | 234/18723 | 4.75e-04 | 1.29e-02 | 25 |
GO:00610051 | Lung | MIAC | cell differentiation involved in kidney development | 10/967 | 57/18723 | 6.08e-04 | 1.50e-02 | 10 |
GO:007207321 | Lung | MIAC | kidney epithelium development | 17/967 | 136/18723 | 6.48e-04 | 1.56e-02 | 17 |
GO:001604922 | Lung | MIAC | cell growth | 42/967 | 482/18723 | 6.66e-04 | 1.59e-02 | 42 |
GO:000189432 | Lung | MIAC | tissue homeostasis | 27/967 | 268/18723 | 7.22e-04 | 1.63e-02 | 27 |
GO:004887223 | Lung | MIAC | homeostasis of number of cells | 27/967 | 272/18723 | 9.04e-04 | 1.92e-02 | 27 |
GO:007200911 | Lung | MIAC | nephron epithelium development | 14/967 | 109/18723 | 1.45e-03 | 2.54e-02 | 14 |
GO:00328363 | Lung | MIAC | glomerular basement membrane development | 4/967 | 11/18723 | 1.74e-03 | 2.88e-02 | 4 |
GO:006024922 | Lung | MIAC | anatomical structure homeostasis | 29/967 | 314/18723 | 1.83e-03 | 2.97e-02 | 29 |
GO:00094161 | Lung | MIAC | response to light stimulus | 29/967 | 320/18723 | 2.42e-03 | 3.56e-02 | 29 |
GO:012019322 | Lung | MIAC | tight junction organization | 11/967 | 80/18723 | 2.63e-03 | 3.71e-02 | 11 |
GO:00613184 | Lung | MIAC | renal filtration cell differentiation | 5/967 | 20/18723 | 2.94e-03 | 4.00e-02 | 5 |
GO:00721124 | Lung | MIAC | glomerular visceral epithelial cell differentiation | 5/967 | 20/18723 | 2.94e-03 | 4.00e-02 | 5 |
GO:001988231 | Lung | MIAC | antigen processing and presentation | 13/967 | 106/18723 | 3.18e-03 | 4.23e-02 | 13 |
GO:000715911 | Lung | MIAC | leukocyte cell-cell adhesion | 32/967 | 371/18723 | 3.24e-03 | 4.27e-02 | 32 |
GO:00723114 | Lung | MIAC | glomerular epithelial cell differentiation | 5/967 | 21/18723 | 3.70e-03 | 4.60e-02 | 5 |
GO:000961515 | Oral cavity | OSCC | response to virus | 215/7305 | 367/18723 | 1.63e-14 | 9.41e-13 | 215 |
GO:001604917 | Oral cavity | OSCC | cell growth | 268/7305 | 482/18723 | 6.55e-14 | 3.51e-12 | 268 |
GO:004206020 | Oral cavity | OSCC | wound healing | 237/7305 | 422/18723 | 4.51e-13 | 2.18e-11 | 237 |
GO:00070335 | Oral cavity | OSCC | vacuole organization | 115/7305 | 180/18723 | 1.11e-11 | 4.00e-10 | 115 |
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 |
EXT1 | SNV | Missense_Mutation | | c.781N>G | p.Lys261Glu | p.K261E | Q16394 | protein_coding | tolerated(0.14) | possibly_damaging(0.627) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
EXT1 | SNV | Missense_Mutation | novel | c.119N>C | p.His40Pro | p.H40P | Q16394 | protein_coding | tolerated(0.29) | benign(0.007) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXT1 | SNV | Missense_Mutation | | c.1024N>A | p.Leu342Ile | p.L342I | Q16394 | protein_coding | deleterious(0.02) | possibly_damaging(0.883) | TCGA-C8-A12V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXT1 | insertion | In_Frame_Ins | novel | c.807_808insTCTCACTGTCTAAAC | p.Lys269_Arg270insSerHisCysLeuAsn | p.K269_R270insSHCLN | Q16394 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EXT1 | insertion | Nonsense_Mutation | novel | c.805_806insTAAACTTTTTTTTTTTTTTTTAAATGTGGGCCTC | p.Lys269IlefsTer8 | p.K269Ifs*8 | Q16394 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EXT1 | SNV | Missense_Mutation | novel | c.1651N>G | p.Leu551Val | p.L551V | Q16394 | protein_coding | tolerated(0.1) | benign(0.099) | TCGA-VS-A8EB-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | PD |
EXT1 | SNV | Missense_Mutation | | c.793G>A | p.Val265Ile | p.V265I | Q16394 | protein_coding | tolerated(0.1) | benign(0.223) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EXT1 | SNV | Missense_Mutation | rs767492816 | c.1612N>A | p.Val538Ile | p.V538I | Q16394 | protein_coding | tolerated(0.23) | benign(0.386) | TCGA-A6-5656-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EXT1 | SNV | Missense_Mutation | | c.542N>C | p.Leu181Pro | p.L181P | Q16394 | protein_coding | deleterious(0.02) | probably_damaging(0.992) | TCGA-AA-3666-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
EXT1 | SNV | Missense_Mutation | | c.452N>T | p.Ala151Val | p.A151V | Q16394 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |