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/LTBP3_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/LTBP3_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/LTBP3_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/LTBP3_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/LTBP3_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:004886321 | Thyroid | ATC | stem cell differentiation | 97/6293 | 206/18723 | 3.88e-05 | 3.15e-04 | 97 |
GO:0060349 | Thyroid | ATC | bone morphogenesis | 50/6293 | 93/18723 | 4.87e-05 | 3.88e-04 | 50 |
GO:008502911 | Thyroid | ATC | extracellular matrix assembly | 28/6293 | 45/18723 | 7.91e-05 | 5.95e-04 | 28 |
GO:00487053 | Thyroid | ATC | skeletal system morphogenesis | 101/6293 | 220/18723 | 9.48e-05 | 6.93e-04 | 101 |
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:200073616 | Thyroid | ATC | regulation of stem cell differentiation | 33/6293 | 58/18723 | 2.25e-04 | 1.46e-03 | 33 |
GO:007160422 | Thyroid | ATC | transforming growth factor beta production | 25/6293 | 43/18723 | 8.24e-04 | 4.53e-03 | 25 |
GO:00487715 | Thyroid | ATC | tissue remodeling | 78/6293 | 175/18723 | 1.60e-03 | 8.04e-03 | 78 |
GO:00363631 | Thyroid | ATC | transforming growth factor beta activation | 8/6293 | 10/18723 | 3.60e-03 | 1.58e-02 | 8 |
GO:00512163 | Thyroid | ATC | cartilage development | 81/6293 | 190/18723 | 5.70e-03 | 2.30e-02 | 81 |
GO:01101492 | Thyroid | ATC | regulation of biomineralization | 45/6293 | 99/18723 | 9.34e-03 | 3.44e-02 | 45 |
GO:00701672 | Thyroid | ATC | regulation of biomineral tissue development | 44/6293 | 97/18723 | 1.05e-02 | 3.81e-02 | 44 |
GO:00468491 | Thyroid | ATC | bone remodeling | 41/6293 | 90/18723 | 1.21e-02 | 4.30e-02 | 41 |
GO:0030500 | Thyroid | ATC | regulation of bone mineralization | 36/6293 | 78/18723 | 1.43e-02 | 4.92e-02 | 36 |
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 |
LTBP3 | SNV | Missense_Mutation | rs761955225 | c.1534G>T | p.Val512Leu | p.V512L | Q9NS15 | protein_coding | tolerated(0.16) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
LTBP3 | SNV | Missense_Mutation | novel | c.2171G>A | p.Ser724Asn | p.S724N | Q9NS15 | protein_coding | deleterious(0) | benign(0.149) | TCGA-C8-A12V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LTBP3 | insertion | Frame_Shift_Ins | novel | c.1998_1999insGGAGCTTCAAGTGCAT | p.Pro667GlyfsTer129 | p.P667Gfs*129 | Q9NS15 | protein_coding | | | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
LTBP3 | deletion | Frame_Shift_Del | rs752375653 | c.2216delN | p.Gly739AlafsTer7 | p.G739Afs*7 | Q9NS15 | protein_coding | | | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LTBP3 | SNV | Missense_Mutation | novel | c.1133N>A | p.Arg378His | p.R378H | Q9NS15 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
LTBP3 | SNV | Missense_Mutation | | c.3115N>C | p.Glu1039Gln | p.E1039Q | Q9NS15 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
LTBP3 | SNV | Missense_Mutation | | c.2896N>A | p.Glu966Lys | p.E966K | Q9NS15 | protein_coding | deleterious(0) | benign(0.153) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
LTBP3 | SNV | Missense_Mutation | novel | c.1598N>A | p.Thr533Lys | p.T533K | Q9NS15 | protein_coding | deleterious(0.01) | benign(0.224) | TCGA-EX-A69M-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
LTBP3 | SNV | Missense_Mutation | novel | c.3643G>C | p.Glu1215Gln | p.E1215Q | Q9NS15 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-VS-A9UR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
LTBP3 | SNV | Missense_Mutation | novel | c.1297G>A | p.Gly433Ser | p.G433S | Q9NS15 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-VS-A9V0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |