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/FBLN2_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/FBLN2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/FBLN2_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/FBLN2_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:004578514 | Breast | IDC | positive regulation of cell adhesion | 62/1434 | 437/18723 | 1.70e-06 | 7.16e-05 | 62 |
GO:001081114 | Breast | IDC | positive regulation of cell-substrate adhesion | 20/1434 | 123/18723 | 1.05e-03 | 1.16e-02 | 20 |
GO:00108109 | Breast | IDC | regulation of cell-substrate adhesion | 28/1434 | 221/18723 | 5.88e-03 | 4.24e-02 | 28 |
GO:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
GO:001081020 | Esophagus | ESCC | regulation of cell-substrate adhesion | 144/8552 | 221/18723 | 3.55e-09 | 7.45e-08 | 144 |
GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
GO:001081126 | Esophagus | ESCC | positive regulation of cell-substrate adhesion | 84/8552 | 123/18723 | 3.18e-07 | 4.50e-06 | 84 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:001081026 | Skin | AK | regulation of cell-substrate adhesion | 53/1910 | 221/18723 | 2.22e-09 | 2.02e-07 | 53 |
GO:004578528 | Skin | AK | positive regulation of cell adhesion | 85/1910 | 437/18723 | 3.40e-09 | 2.79e-07 | 85 |
GO:003158920 | Skin | AK | cell-substrate adhesion | 74/1910 | 363/18723 | 4.40e-09 | 3.30e-07 | 74 |
GO:001081127 | Skin | AK | positive regulation of cell-substrate adhesion | 29/1910 | 123/18723 | 1.29e-05 | 2.58e-04 | 29 |
GO:0045785111 | Skin | SCCIS | positive regulation of cell adhesion | 57/919 | 437/18723 | 1.49e-11 | 1.58e-08 | 57 |
GO:0031589110 | Skin | SCCIS | cell-substrate adhesion | 44/919 | 363/18723 | 3.03e-08 | 7.00e-06 | 44 |
GO:0010810111 | Skin | SCCIS | regulation of cell-substrate adhesion | 30/919 | 221/18723 | 4.35e-07 | 3.67e-05 | 30 |
GO:00301985 | Skin | SCCIS | extracellular matrix organization | 32/919 | 301/18723 | 3.46e-05 | 9.17e-04 | 32 |
GO:00430625 | Skin | SCCIS | extracellular structure organization | 32/919 | 302/18723 | 3.69e-05 | 9.65e-04 | 32 |
GO:00452295 | Skin | SCCIS | external encapsulating structure organization | 32/919 | 304/18723 | 4.20e-05 | 1.06e-03 | 32 |
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 |
FBLN2 | SNV | Missense_Mutation | | c.1675N>G | p.Leu559Val | p.L559V | P98095 | protein_coding | tolerated(0.11) | possibly_damaging(0.84) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FBLN2 | SNV | Missense_Mutation | novel | c.538N>G | p.Asn180Asp | p.N180D | P98095 | protein_coding | deleterious(0.03) | possibly_damaging(0.84) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBLN2 | SNV | Missense_Mutation | | c.1084N>A | p.Leu362Met | p.L362M | P98095 | protein_coding | tolerated(0.24) | benign(0.332) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
FBLN2 | SNV | Missense_Mutation | novel | c.3630N>C | p.Trp1210Cys | p.W1210C | P98095 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AQ-A54N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBLN2 | SNV | Missense_Mutation | rs751893647 | c.3185N>T | p.Thr1062Ile | p.T1062I | P98095 | protein_coding | deleterious(0) | possibly_damaging(0.798) | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
FBLN2 | SNV | Missense_Mutation | | c.2564G>C | p.Cys855Ser | p.C855S | P98095 | protein_coding | deleterious(0) | benign(0.065) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
FBLN2 | SNV | Missense_Mutation | | c.2872N>T | p.Arg958Cys | p.R958C | P98095 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A18M-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FBLN2 | SNV | Missense_Mutation | | c.3343N>A | p.Cys1115Ser | p.C1115S | P98095 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
FBLN2 | insertion | Frame_Shift_Ins | novel | c.2135_2136insT | p.Asp713GlyfsTer6 | p.D713Gfs*6 | P98095 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
FBLN2 | insertion | Frame_Shift_Ins | novel | c.2136_2137insGTGCTGGGTATGTGCAA | p.Asp713ValfsTer18 | p.D713Vfs*18 | P98095 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |