Tissue | Expression Dynamics | Abbreviation |
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/LTBP1_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/LTBP1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/LTBP1_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/LTBP1_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/LTBP1_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/LTBP1_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:004518516 | Endometrium | AEH | maintenance of protein location | 27/2100 | 94/18723 | 2.78e-06 | 7.89e-05 | 27 |
GO:00715596 | Endometrium | AEH | response to transforming growth factor beta | 53/2100 | 256/18723 | 7.01e-06 | 1.69e-04 | 53 |
GO:00071787 | Endometrium | AEH | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2100 | 355/18723 | 1.28e-05 | 2.80e-04 | 67 |
GO:00715606 | Endometrium | AEH | cellular response to transforming growth factor beta stimulus | 51/2100 | 250/18723 | 1.59e-05 | 3.32e-04 | 51 |
GO:005123510 | Endometrium | AEH | maintenance of location | 60/2100 | 327/18723 | 8.19e-05 | 1.22e-03 | 60 |
GO:00071796 | Endometrium | AEH | transforming growth factor beta receptor signaling pathway | 38/2100 | 198/18723 | 6.41e-04 | 6.23e-03 | 38 |
GO:00900922 | Endometrium | AEH | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 43/2100 | 256/18723 | 4.47e-03 | 2.93e-02 | 43 |
GO:00716927 | Endometrium | AEH | protein localization to extracellular region | 58/2100 | 368/18723 | 4.72e-03 | 3.00e-02 | 58 |
GO:004518517 | Endometrium | EEC | maintenance of protein location | 28/2168 | 94/18723 | 1.55e-06 | 4.86e-05 | 28 |
GO:007155914 | Endometrium | EEC | response to transforming growth factor beta | 54/2168 | 256/18723 | 8.25e-06 | 1.83e-04 | 54 |
GO:007156014 | Endometrium | EEC | cellular response to transforming growth factor beta stimulus | 52/2168 | 250/18723 | 1.81e-05 | 3.41e-04 | 52 |
GO:000717814 | Endometrium | EEC | transmembrane receptor protein serine/threonine kinase signaling pathway | 68/2168 | 355/18723 | 1.90e-05 | 3.50e-04 | 68 |
GO:005123515 | Endometrium | EEC | maintenance of location | 62/2168 | 327/18723 | 5.92e-05 | 9.13e-04 | 62 |
GO:000717914 | Endometrium | EEC | transforming growth factor beta receptor signaling pathway | 39/2168 | 198/18723 | 6.03e-04 | 5.98e-03 | 39 |
GO:009009211 | Endometrium | EEC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 44/2168 | 256/18723 | 4.72e-03 | 3.00e-02 | 44 |
GO:007169213 | Endometrium | EEC | protein localization to extracellular region | 59/2168 | 368/18723 | 5.98e-03 | 3.56e-02 | 59 |
GO:0045185111 | Esophagus | ESCC | maintenance of protein location | 71/8552 | 94/18723 | 3.41e-09 | 7.24e-08 | 71 |
GO:0051235110 | Esophagus | ESCC | maintenance of location | 200/8552 | 327/18723 | 1.01e-08 | 2.02e-07 | 200 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa043504 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa0435011 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa043502 | Endometrium | EEC | TGF-beta signaling pathway | 26/1237 | 108/8465 | 5.95e-03 | 3.12e-02 | 2.33e-02 | 26 |
hsa043503 | Endometrium | EEC | TGF-beta signaling pathway | 26/1237 | 108/8465 | 5.95e-03 | 3.12e-02 | 2.33e-02 | 26 |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa043506 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0435013 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0435041 | Oral cavity | NEOLP | TGF-beta signaling pathway | 28/1112 | 108/8465 | 2.46e-04 | 1.62e-03 | 1.02e-03 | 28 |
hsa0435051 | Oral cavity | NEOLP | TGF-beta signaling pathway | 28/1112 | 108/8465 | 2.46e-04 | 1.62e-03 | 1.02e-03 | 28 |
hsa043505 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435012 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435021 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
hsa0435031 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
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 |
LTBP1 | SNV | Missense_Mutation | novel | c.4960G>C | p.Asp1654His | p.D1654H | Q14766 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
LTBP1 | SNV | Missense_Mutation | | c.2086N>T | p.His696Tyr | p.H696Y | Q14766 | protein_coding | deleterious(0.01) | benign(0.366) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
LTBP1 | SNV | Missense_Mutation | | c.4876N>C | p.Gly1626Arg | p.G1626R | Q14766 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
LTBP1 | SNV | Missense_Mutation | | c.3138N>G | p.Asn1046Lys | p.N1046K | Q14766 | protein_coding | tolerated(0.88) | benign(0.003) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
LTBP1 | SNV | Missense_Mutation | novel | c.2511N>T | p.Gln837His | p.Q837H | Q14766 | protein_coding | deleterious(0.02) | benign(0.025) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LTBP1 | SNV | Missense_Mutation | | c.2878G>C | p.Glu960Gln | p.E960Q | Q14766 | protein_coding | deleterious(0.02) | probably_damaging(0.959) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LTBP1 | SNV | Missense_Mutation | | c.3898G>A | p.Ala1300Thr | p.A1300T | Q14766 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
LTBP1 | SNV | Missense_Mutation | rs748096563 | c.3959A>G | p.Tyr1320Cys | p.Y1320C | Q14766 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LTBP1 | SNV | Missense_Mutation | | c.3705N>G | p.Ile1235Met | p.I1235M | Q14766 | protein_coding | tolerated(0.2) | possibly_damaging(0.689) | TCGA-BH-A0BO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LTBP1 | SNV | Missense_Mutation | | c.2983N>G | p.Arg995Gly | p.R995G | Q14766 | protein_coding | deleterious(0.04) | benign(0.062) | TCGA-BH-A0DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |