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/COL6A3_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/COL6A3_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/COL6A3_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/COL6A3_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/COL6A3_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:005254820 | Oral cavity | OSCC | regulation of endopeptidase activity | 235/7305 | 432/18723 | 4.35e-11 | 1.40e-09 | 235 |
GO:004586120 | Oral cavity | OSCC | negative regulation of proteolysis | 181/7305 | 351/18723 | 1.01e-06 | 1.37e-05 | 181 |
GO:005134618 | Oral cavity | OSCC | negative regulation of hydrolase activity | 182/7305 | 379/18723 | 1.98e-04 | 1.32e-03 | 182 |
GO:001095117 | Oral cavity | OSCC | negative regulation of endopeptidase activity | 126/7305 | 252/18723 | 2.37e-04 | 1.54e-03 | 126 |
GO:001046618 | Oral cavity | OSCC | negative regulation of peptidase activity | 130/7305 | 262/18723 | 2.89e-04 | 1.82e-03 | 130 |
GO:005254733 | Oral cavity | NEOLP | regulation of peptidase activity | 98/2005 | 461/18723 | 1.77e-11 | 2.56e-09 | 98 |
GO:004586133 | Oral cavity | NEOLP | negative regulation of proteolysis | 76/2005 | 351/18723 | 1.40e-09 | 9.80e-08 | 76 |
GO:005254833 | Oral cavity | NEOLP | regulation of endopeptidase activity | 88/2005 | 432/18723 | 1.82e-09 | 1.18e-07 | 88 |
GO:005134631 | Oral cavity | NEOLP | negative regulation of hydrolase activity | 75/2005 | 379/18723 | 9.98e-08 | 3.66e-06 | 75 |
GO:001046632 | Oral cavity | NEOLP | negative regulation of peptidase activity | 57/2005 | 262/18723 | 1.32e-07 | 4.65e-06 | 57 |
GO:001095132 | Oral cavity | NEOLP | negative regulation of endopeptidase activity | 55/2005 | 252/18723 | 1.94e-07 | 6.52e-06 | 55 |
GO:000751714 | Oral cavity | NEOLP | muscle organ development | 56/2005 | 327/18723 | 2.65e-04 | 2.70e-03 | 56 |
GO:005254727 | Skin | AK | regulation of peptidase activity | 88/1910 | 461/18723 | 4.65e-09 | 3.44e-07 | 88 |
GO:004586127 | Skin | AK | negative regulation of proteolysis | 72/1910 | 351/18723 | 5.40e-09 | 3.90e-07 | 72 |
GO:005254827 | Skin | AK | regulation of endopeptidase activity | 82/1910 | 432/18723 | 2.03e-08 | 1.18e-06 | 82 |
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:00075177 | Skin | AK | muscle organ development | 50/1910 | 327/18723 | 2.38e-03 | 1.56e-02 | 50 |
GO:0045861112 | Skin | SCCIS | negative regulation of proteolysis | 40/919 | 351/18723 | 6.58e-07 | 5.13e-05 | 40 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0451015 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa0451016 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa0451024 | Endometrium | EEC | Focal adhesion | 58/1237 | 203/8465 | 1.61e-07 | 2.30e-06 | 1.71e-06 | 58 |
hsa0451034 | Endometrium | EEC | Focal adhesion | 58/1237 | 203/8465 | 1.61e-07 | 2.30e-06 | 1.71e-06 | 58 |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa0451020 | Esophagus | ESCC | Focal adhesion | 127/4205 | 203/8465 | 1.25e-04 | 4.99e-04 | 2.56e-04 | 127 |
hsa041517 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa0516515 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa04510111 | Esophagus | ESCC | Focal adhesion | 127/4205 | 203/8465 | 1.25e-04 | 4.99e-04 | 2.56e-04 | 127 |
hsa0415114 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa051659 | Oral cavity | OSCC | Human papillomavirus infection | 200/3704 | 331/8465 | 3.83e-10 | 4.93e-09 | 2.51e-09 | 200 |
hsa0451019 | Oral cavity | OSCC | Focal adhesion | 128/3704 | 203/8465 | 1.71e-08 | 1.63e-07 | 8.31e-08 | 128 |
hsa041516 | Oral cavity | OSCC | PI3K-Akt signaling pathway | 185/3704 | 354/8465 | 6.26e-04 | 1.86e-03 | 9.49e-04 | 185 |
hsa0516514 | Oral cavity | OSCC | Human papillomavirus infection | 200/3704 | 331/8465 | 3.83e-10 | 4.93e-09 | 2.51e-09 | 200 |
hsa04510110 | Oral cavity | OSCC | Focal adhesion | 128/3704 | 203/8465 | 1.71e-08 | 1.63e-07 | 8.31e-08 | 128 |
hsa0415113 | Oral cavity | OSCC | PI3K-Akt signaling pathway | 185/3704 | 354/8465 | 6.26e-04 | 1.86e-03 | 9.49e-04 | 185 |
hsa0451043 | Oral cavity | NEOLP | Focal adhesion | 71/1112 | 203/8465 | 7.25e-16 | 7.68e-14 | 4.83e-14 | 71 |
hsa0516561 | Oral cavity | NEOLP | Human papillomavirus infection | 90/1112 | 331/8465 | 2.75e-12 | 1.75e-10 | 1.10e-10 | 90 |
hsa0415141 | Oral cavity | NEOLP | PI3K-Akt signaling pathway | 79/1112 | 354/8465 | 8.42e-07 | 9.92e-06 | 6.24e-06 | 79 |
hsa045126 | Oral cavity | NEOLP | ECM-receptor interaction | 24/1112 | 89/8465 | 3.56e-04 | 2.18e-03 | 1.37e-03 | 24 |
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 |
COL6A3 | SNV | Missense_Mutation | novel | c.1195G>C | p.Val399Leu | p.V399L | P12111 | protein_coding | tolerated(0.07) | benign(0.285) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
COL6A3 | SNV | Missense_Mutation | rs770436761 | c.8639C>T | p.Thr2880Met | p.T2880M | P12111 | protein_coding | deleterious(0.03) | benign(0.255) | TCGA-A2-A0YM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL6A3 | SNV | Missense_Mutation | | c.4490C>T | p.Ala1497Val | p.A1497V | P12111 | protein_coding | tolerated(0.28) | benign(0.09) | TCGA-A2-A25D-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
COL6A3 | SNV | Missense_Mutation | | c.7274N>C | p.Val2425Ala | p.V2425A | P12111 | protein_coding | tolerated(0.07) | probably_damaging(0.93) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
COL6A3 | SNV | Missense_Mutation | novel | c.2173N>C | p.Tyr725His | p.Y725H | P12111 | protein_coding | tolerated(0.24) | possibly_damaging(0.757) | TCGA-A8-A08G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
COL6A3 | SNV | Missense_Mutation | | c.3938N>T | p.Gly1313Val | p.G1313V | P12111 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
COL6A3 | SNV | Missense_Mutation | | c.175N>G | p.Arg59Gly | p.R59G | P12111 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
COL6A3 | SNV | Missense_Mutation | novel | c.8020N>G | p.Ser2674Ala | p.S2674A | P12111 | protein_coding | tolerated(0.51) | benign(0.339) | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL6A3 | SNV | Missense_Mutation | novel | c.3736C>T | p.Pro1246Ser | p.P1246S | P12111 | protein_coding | tolerated(0.62) | benign(0.038) | TCGA-AC-A7VB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL6A3 | SNV | Missense_Mutation | | c.3758N>A | p.Thr1253Asn | p.T1253N | P12111 | protein_coding | tolerated(0.47) | benign(0.009) | TCGA-AN-A0AJ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |