Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/COL7A1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/COL7A1_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/COL7A1_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/COL7A1_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/COL7A1_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/COL7A1_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:00073699 | Skin | AK | gastrulation | 41/1910 | 185/18723 | 1.32e-06 | 4.13e-05 | 41 |
GO:00017045 | Skin | AK | formation of primary germ layer | 30/1910 | 121/18723 | 3.12e-06 | 8.17e-05 | 30 |
GO:001046625 | Skin | AK | negative regulation of peptidase activity | 51/1910 | 262/18723 | 4.43e-06 | 1.07e-04 | 51 |
GO:005134626 | Skin | AK | negative regulation of hydrolase activity | 67/1910 | 379/18723 | 5.22e-06 | 1.21e-04 | 67 |
GO:001095120 | Skin | AK | negative regulation of endopeptidase activity | 49/1910 | 252/18723 | 6.98e-06 | 1.55e-04 | 49 |
GO:00074927 | Skin | AK | endoderm development | 21/1910 | 77/18723 | 1.95e-05 | 3.64e-04 | 21 |
GO:00017065 | Skin | AK | endoderm formation | 16/1910 | 54/18723 | 6.27e-05 | 9.23e-04 | 16 |
GO:00359874 | Skin | AK | endodermal cell differentiation | 12/1910 | 45/18723 | 1.43e-03 | 1.05e-02 | 12 |
GO:005254728 | Skin | cSCC | regulation of peptidase activity | 177/4864 | 461/18723 | 2.21e-09 | 8.02e-08 | 177 |
GO:000854425 | Skin | cSCC | epidermis development | 131/4864 | 324/18723 | 7.38e-09 | 2.39e-07 | 131 |
GO:005254828 | Skin | cSCC | regulation of endopeptidase activity | 165/4864 | 432/18723 | 1.18e-08 | 3.63e-07 | 165 |
GO:004586128 | Skin | cSCC | negative regulation of proteolysis | 128/4864 | 351/18723 | 7.95e-06 | 1.09e-04 | 128 |
GO:005134627 | Skin | cSCC | negative regulation of hydrolase activity | 130/4864 | 379/18723 | 1.74e-04 | 1.49e-03 | 130 |
GO:001095125 | Skin | cSCC | negative regulation of endopeptidase activity | 89/4864 | 252/18723 | 6.05e-04 | 4.38e-03 | 89 |
GO:001046626 | Skin | cSCC | negative regulation of peptidase activity | 91/4864 | 262/18723 | 9.73e-04 | 6.58e-03 | 91 |
GO:0052547113 | Thyroid | PTC | regulation of peptidase activity | 191/5968 | 461/18723 | 7.82e-06 | 9.02e-05 | 191 |
GO:000736910 | Thyroid | PTC | gastrulation | 84/5968 | 185/18723 | 7.58e-05 | 6.52e-04 | 84 |
GO:0052548113 | Thyroid | PTC | regulation of endopeptidase activity | 174/5968 | 432/18723 | 1.20e-04 | 9.55e-04 | 174 |
GO:00017046 | Thyroid | PTC | formation of primary germ layer | 57/5968 | 121/18723 | 3.23e-04 | 2.23e-03 | 57 |
GO:000749213 | Thyroid | PTC | endoderm development | 39/5968 | 77/18723 | 4.64e-04 | 3.06e-03 | 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 |
COL7A1 | SNV | Missense_Mutation | rs751405989 | c.2221G>A | p.Asp741Asn | p.D741N | Q02388 | protein_coding | deleterious(0.02) | probably_damaging(0.946) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
COL7A1 | SNV | Missense_Mutation | | c.1342N>C | p.Trp448Arg | p.W448R | Q02388 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-A2-A0T7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL7A1 | SNV | Missense_Mutation | | c.6298N>T | p.Gly2100Cys | p.G2100C | Q02388 | protein_coding | tolerated(0.14) | probably_damaging(0.969) | TCGA-A8-A09T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
COL7A1 | SNV | Missense_Mutation | | c.7270C>T | p.Arg2424Trp | p.R2424W | Q02388 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AN-A04D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL7A1 | SNV | Missense_Mutation | novel | c.2890N>T | p.Val964Leu | p.V964L | Q02388 | protein_coding | deleterious(0) | possibly_damaging(0.621) | TCGA-AO-A03L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
COL7A1 | SNV | Missense_Mutation | | c.8544N>T | p.Glu2848Asp | p.E2848D | Q02388 | protein_coding | tolerated(0.44) | benign(0.038) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
COL7A1 | SNV | Missense_Mutation | rs773146110 | c.8324N>T | p.Gly2775Val | p.G2775V | Q02388 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
COL7A1 | SNV | Missense_Mutation | rs773146110 | c.8324G>T | p.Gly2775Val | p.G2775V | Q02388 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AR-A0TQ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
COL7A1 | SNV | Missense_Mutation | rs145343367 | c.1474N>A | p.Glu492Lys | p.E492K | Q02388 | protein_coding | deleterious(0.04) | probably_damaging(0.917) | TCGA-AR-A2LN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
COL7A1 | SNV | Missense_Mutation | | c.6245N>A | p.Gly2082Glu | p.G2082E | Q02388 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |