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/COL18A1_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/COL18A1_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/COL18A1_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/COL18A1_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/COL18A1_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/COL18A1_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/COL18A1_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:000315810 | Endometrium | AEH | endothelium development | 31/2100 | 136/18723 | 8.53e-05 | 1.26e-03 | 31 |
GO:000206415 | Endometrium | AEH | epithelial cell development | 43/2100 | 220/18723 | 1.94e-04 | 2.48e-03 | 43 |
GO:00011017 | Endometrium | AEH | response to acid chemical | 28/2100 | 135/18723 | 9.24e-04 | 8.43e-03 | 28 |
GO:00454467 | Endometrium | AEH | endothelial cell differentiation | 24/2100 | 118/18723 | 2.71e-03 | 1.96e-02 | 24 |
GO:000941010 | Endometrium | AEH | response to xenobiotic stimulus | 71/2100 | 462/18723 | 3.66e-03 | 2.50e-02 | 71 |
GO:000315813 | Endometrium | EEC | endothelium development | 32/2168 | 136/18723 | 6.37e-05 | 9.48e-04 | 32 |
GO:000206416 | Endometrium | EEC | epithelial cell development | 45/2168 | 220/18723 | 9.73e-05 | 1.35e-03 | 45 |
GO:000110113 | Endometrium | EEC | response to acid chemical | 29/2168 | 135/18723 | 6.98e-04 | 6.68e-03 | 29 |
GO:004544613 | Endometrium | EEC | endothelial cell differentiation | 25/2168 | 118/18723 | 1.93e-03 | 1.47e-02 | 25 |
GO:000941015 | Endometrium | EEC | response to xenobiotic stimulus | 73/2168 | 462/18723 | 3.55e-03 | 2.38e-02 | 73 |
GO:00018857 | Endometrium | EEC | endothelial cell development | 15/2168 | 64/18723 | 5.54e-03 | 3.36e-02 | 15 |
GO:000206420 | Esophagus | ESCC | epithelial cell development | 136/8552 | 220/18723 | 9.50e-07 | 1.21e-05 | 136 |
GO:000941020 | Esophagus | ESCC | response to xenobiotic stimulus | 253/8552 | 462/18723 | 4.55e-05 | 3.58e-04 | 253 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:000110110 | Esophagus | ESCC | response to acid chemical | 84/8552 | 135/18723 | 7.70e-05 | 5.74e-04 | 84 |
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:000188510 | Esophagus | ESCC | endothelial cell development | 44/8552 | 64/18723 | 1.59e-04 | 1.05e-03 | 44 |
GO:004544610 | Esophagus | ESCC | endothelial cell differentiation | 67/8552 | 118/18723 | 9.86e-03 | 3.40e-02 | 67 |
GO:000315818 | Esophagus | ESCC | endothelium development | 76/8552 | 136/18723 | 1.05e-02 | 3.59e-02 | 76 |
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 |
COL18A1 | SNV | Missense_Mutation | novel | c.5002N>T | p.Gly1668Trp | p.G1668W | P39060 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
COL18A1 | SNV | Missense_Mutation | | c.1509C>G | p.Phe503Leu | p.F503L | P39060 | protein_coding | deleterious(0.02) | possibly_damaging(0.526) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
COL18A1 | SNV | Missense_Mutation | | c.2490N>T | p.Lys830Asn | p.K830N | P39060 | protein_coding | deleterious(0.02) | possibly_damaging(0.741) | TCGA-AO-A0J3-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD |
COL18A1 | SNV | Missense_Mutation | rs576719084 | c.3919N>A | p.Gly1307Arg | p.G1307R | P39060 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-B6-A0RL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL18A1 | SNV | Missense_Mutation | | c.17N>A | p.Cys6Tyr | p.C6Y | P39060 | protein_coding | deleterious_low_confidence(0.04) | benign(0.018) | TCGA-BH-A1EY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
COL18A1 | SNV | Missense_Mutation | rs551388856 | c.2224N>T | p.Arg742Trp | p.R742W | P39060 | protein_coding | tolerated(0.1) | benign(0) | TCGA-E2-A14R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
COL18A1 | insertion | Frame_Shift_Ins | novel | c.1600_1601insCCCAGGATGGGATTTTGGGGATGAGA | p.Val534AlafsTer14 | p.V534Afs*14 | P39060 | protein_coding | | | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
COL18A1 | insertion | Frame_Shift_Ins | novel | c.2626_2627insCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTG | p.Phe876SerfsTer17 | p.F876Sfs*17 | P39060 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
COL18A1 | deletion | Frame_Shift_Del | | c.3151_3163delGGCCTGCCGGGAC | p.Gly1051LeufsTer84 | p.G1051Lfs*84 | P39060 | protein_coding | | | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL18A1 | deletion | Frame_Shift_Del | novel | c.4349delN | p.Thr1450AsnfsTer216 | p.T1450Nfs*216 | P39060 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |