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/COL4A5_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | ![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/Lung/COL4A5_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/COL4A5_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/COL4A5_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/COL4A5_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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:005080811 | Lung | AIS | synapse organization | 63/1849 | 426/18723 | 7.39e-04 | 1.07e-02 | 63 |
GO:00301983 | Oral cavity | OSCC | extracellular matrix organization | 146/7305 | 301/18723 | 4.67e-04 | 2.77e-03 | 146 |
GO:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
GO:00430623 | Oral cavity | OSCC | extracellular structure organization | 146/7305 | 302/18723 | 5.59e-04 | 3.23e-03 | 146 |
GO:00301982 | Oral cavity | NEOLP | extracellular matrix organization | 64/2005 | 301/18723 | 5.66e-08 | 2.24e-06 | 64 |
GO:00430622 | Oral cavity | NEOLP | extracellular structure organization | 64/2005 | 302/18723 | 6.44e-08 | 2.50e-06 | 64 |
GO:00452292 | Oral cavity | NEOLP | external encapsulating structure organization | 64/2005 | 304/18723 | 8.33e-08 | 3.17e-06 | 64 |
GO:00508087 | Prostate | BPH | synapse organization | 103/3107 | 426/18723 | 3.19e-05 | 3.61e-04 | 103 |
GO:00430621 | Prostate | BPH | extracellular structure organization | 67/3107 | 302/18723 | 6.67e-03 | 3.00e-02 | 67 |
GO:0038063 | Prostate | BPH | collagen-activated tyrosine kinase receptor signaling pathway | 6/3107 | 12/18723 | 7.73e-03 | 3.39e-02 | 6 |
GO:00301981 | Prostate | BPH | extracellular matrix organization | 66/3107 | 301/18723 | 9.20e-03 | 3.92e-02 | 66 |
GO:00452291 | Prostate | BPH | external encapsulating structure organization | 66/3107 | 304/18723 | 1.15e-02 | 4.66e-02 | 66 |
GO:005080813 | Prostate | Tumor | synapse organization | 105/3246 | 426/18723 | 7.20e-05 | 7.62e-04 | 105 |
GO:00508088 | Skin | AK | synapse organization | 71/1910 | 426/18723 | 2.21e-05 | 4.07e-04 | 71 |
GO:005080814 | Skin | SCCIS | synapse organization | 42/919 | 426/18723 | 1.43e-05 | 4.70e-04 | 42 |
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 |
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 |
COL4A5 | SNV | Missense_Mutation | | c.1843N>A | p.Gly615Arg | p.G615R | P29400 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A0A1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
COL4A5 | SNV | Missense_Mutation | rs757706609 | c.3932N>T | p.Pro1311Leu | p.P1311L | P29400 | protein_coding | deleterious(0.02) | possibly_damaging(0.463) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
COL4A5 | SNV | Missense_Mutation | rs750941179 | c.4847N>T | p.Ser1616Leu | p.S1616L | P29400 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
COL4A5 | SNV | Missense_Mutation | novel | c.2129N>A | p.Gly710Glu | p.G710E | P29400 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A8OP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL4A5 | SNV | Missense_Mutation | rs866974052 | c.746G>A | p.Arg249Lys | p.R249K | P29400 | protein_coding | tolerated(0.93) | benign(0.085) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL4A5 | SNV | Missense_Mutation | novel | c.4237G>A | p.Asp1413Asn | p.D1413N | P29400 | protein_coding | tolerated(0.46) | benign(0.189) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL4A5 | SNV | Missense_Mutation | novel | c.4575N>A | p.Met1525Ile | p.M1525I | P29400 | protein_coding | deleterious(0.03) | probably_damaging(0.91) | TCGA-AN-A04D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL4A5 | SNV | Missense_Mutation | | c.4093N>T | p.Pro1365Ser | p.P1365S | P29400 | protein_coding | tolerated(0.06) | probably_damaging(0.998) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
COL4A5 | SNV | Missense_Mutation | | c.4052G>T | p.Gly1351Val | p.G1351V | P29400 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
COL4A5 | SNV | Missense_Mutation | novel | c.4219C>T | p.Pro1407Ser | p.P1407S | P29400 | protein_coding | tolerated(0.33) | benign(0.005) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |