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/TGFBI_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/TGFBI_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/TGFBI_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/TGFBI_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/TGFBI_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/TGFBI_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/TGFBI_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/TGFBI_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:004522911 | Oral cavity | EOLP | external encapsulating structure organization | 52/2218 | 304/18723 | 4.04e-03 | 2.23e-02 | 52 |
GO:00020622 | Oral cavity | EOLP | chondrocyte differentiation | 22/2218 | 106/18723 | 5.93e-03 | 2.98e-02 | 22 |
GO:00301982 | Oral cavity | NEOLP | extracellular matrix organization | 64/2005 | 301/18723 | 5.66e-08 | 2.24e-06 | 64 |
GO:00430622 | Oral cavity | NEOLP | extracellular structure organization | 64/2005 | 302/18723 | 6.44e-08 | 2.50e-06 | 64 |
GO:00452292 | Oral cavity | NEOLP | external encapsulating structure organization | 64/2005 | 304/18723 | 8.33e-08 | 3.17e-06 | 64 |
GO:000716223 | Oral cavity | NEOLP | negative regulation of cell adhesion | 57/2005 | 303/18723 | 1.62e-05 | 2.79e-04 | 57 |
GO:00614482 | Oral cavity | NEOLP | connective tissue development | 46/2005 | 252/18723 | 2.11e-04 | 2.25e-03 | 46 |
GO:00020621 | Oral cavity | NEOLP | chondrocyte differentiation | 22/2005 | 106/18723 | 1.72e-03 | 1.19e-02 | 22 |
GO:0051216 | Oral cavity | NEOLP | cartilage development | 32/2005 | 190/18723 | 6.44e-03 | 3.32e-02 | 32 |
GO:000716224 | Skin | cSCC | negative regulation of cell adhesion | 98/4864 | 303/18723 | 7.45e-03 | 3.50e-02 | 98 |
GO:00301986 | Thyroid | PTC | extracellular matrix organization | 124/5968 | 301/18723 | 3.75e-04 | 2.53e-03 | 124 |
GO:00430626 | Thyroid | PTC | extracellular structure organization | 124/5968 | 302/18723 | 4.38e-04 | 2.92e-03 | 124 |
GO:00452296 | Thyroid | PTC | external encapsulating structure organization | 124/5968 | 304/18723 | 5.96e-04 | 3.79e-03 | 124 |
GO:000716219 | Thyroid | PTC | negative regulation of cell adhesion | 117/5968 | 303/18723 | 7.28e-03 | 3.12e-02 | 117 |
GO:003019812 | Thyroid | ATC | extracellular matrix organization | 152/6293 | 301/18723 | 8.63e-10 | 2.24e-08 | 152 |
GO:004306212 | Thyroid | ATC | extracellular structure organization | 152/6293 | 302/18723 | 1.17e-09 | 2.94e-08 | 152 |
GO:004522912 | Thyroid | ATC | external encapsulating structure organization | 152/6293 | 304/18723 | 2.11e-09 | 5.08e-08 | 152 |
GO:00020624 | Thyroid | ATC | chondrocyte differentiation | 54/6293 | 106/18723 | 1.67e-04 | 1.14e-03 | 54 |
GO:00614484 | Thyroid | ATC | connective tissue development | 112/6293 | 252/18723 | 2.08e-04 | 1.38e-03 | 112 |
GO:000716225 | Thyroid | ATC | negative regulation of cell adhesion | 127/6293 | 303/18723 | 1.45e-03 | 7.47e-03 | 127 |
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 |
TGFBI | SNV | Missense_Mutation | rs774207585 | c.1831N>A | p.Glu611Lys | p.E611K | Q15582 | protein_coding | tolerated(0.19) | possibly_damaging(0.565) | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
TGFBI | SNV | Missense_Mutation | | c.1414N>T | p.Leu472Phe | p.L472F | Q15582 | protein_coding | deleterious(0) | possibly_damaging(0.876) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
TGFBI | SNV | Missense_Mutation | novel | c.1360N>G | p.Thr454Ala | p.T454A | Q15582 | protein_coding | tolerated(0.89) | benign(0.001) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TGFBI | SNV | Missense_Mutation | novel | c.760N>C | p.Glu254Gln | p.E254Q | Q15582 | protein_coding | tolerated(0.07) | probably_damaging(0.971) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TGFBI | SNV | Missense_Mutation | | c.1071C>G | p.Ile357Met | p.I357M | Q15582 | protein_coding | deleterious(0.02) | benign(0.369) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
TGFBI | SNV | Missense_Mutation | novel | c.1483N>A | p.Asp495Asn | p.D495N | Q15582 | protein_coding | tolerated(0.37) | possibly_damaging(0.811) | TCGA-C8-A12T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TGFBI | SNV | Missense_Mutation | | c.358C>A | p.Leu120Met | p.L120M | Q15582 | protein_coding | tolerated(0.12) | benign(0.289) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
TGFBI | SNV | Missense_Mutation | rs200065806 | c.1540C>A | p.Arg514Ser | p.R514S | Q15582 | protein_coding | deleterious(0.01) | possibly_damaging(0.666) | TCGA-LD-A66U-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
TGFBI | insertion | Nonsense_Mutation | novel | c.1545_1546insCTGAGATAGGGCCGTTGCACTCCAGCCTGGGCA | p.Phe515_Ser516insLeuArgTerGlyArgCysThrProAlaTrpAla | p.F515_S516insLR*GRCTPAWA | Q15582 | protein_coding | | | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
TGFBI | SNV | Missense_Mutation | novel | c.1435A>G | p.Ile479Val | p.I479V | Q15582 | protein_coding | tolerated(0.23) | benign(0.208) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |