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:005254716 | Endometrium | AEH | regulation of peptidase activity | 85/2100 | 461/18723 | 2.47e-06 | 7.11e-05 | 85 |
GO:005254816 | Endometrium | AEH | regulation of endopeptidase activity | 76/2100 | 432/18723 | 4.42e-05 | 7.43e-04 | 76 |
GO:00075174 | Endometrium | AEH | muscle organ development | 60/2100 | 327/18723 | 8.19e-05 | 1.22e-03 | 60 |
GO:004586116 | Endometrium | AEH | negative regulation of proteolysis | 63/2100 | 351/18723 | 1.07e-04 | 1.53e-03 | 63 |
GO:005134610 | Endometrium | AEH | negative regulation of hydrolase activity | 65/2100 | 379/18723 | 3.18e-04 | 3.57e-03 | 65 |
GO:001046610 | Endometrium | AEH | negative regulation of peptidase activity | 43/2100 | 262/18723 | 6.78e-03 | 3.95e-02 | 43 |
GO:005254717 | Endometrium | EEC | regulation of peptidase activity | 91/2168 | 461/18723 | 2.00e-07 | 8.93e-06 | 91 |
GO:004586117 | Endometrium | EEC | negative regulation of proteolysis | 72/2168 | 351/18723 | 8.46e-07 | 2.98e-05 | 72 |
GO:005254817 | Endometrium | EEC | regulation of endopeptidase activity | 82/2168 | 432/18723 | 3.96e-06 | 1.04e-04 | 82 |
GO:005134615 | Endometrium | EEC | negative regulation of hydrolase activity | 72/2168 | 379/18723 | 1.46e-05 | 2.87e-04 | 72 |
GO:000751712 | Endometrium | EEC | muscle organ development | 59/2168 | 327/18723 | 3.49e-04 | 3.85e-03 | 59 |
GO:001046615 | Endometrium | EEC | negative regulation of peptidase activity | 49/2168 | 262/18723 | 4.64e-04 | 4.79e-03 | 49 |
GO:001095114 | Endometrium | EEC | negative regulation of endopeptidase activity | 47/2168 | 252/18723 | 6.37e-04 | 6.25e-03 | 47 |
GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
GO:0045861111 | Esophagus | ESCC | negative regulation of proteolysis | 195/8552 | 351/18723 | 1.13e-04 | 7.85e-04 | 195 |
GO:0051346110 | Esophagus | ESCC | negative regulation of hydrolase activity | 208/8552 | 379/18723 | 1.76e-04 | 1.14e-03 | 208 |
GO:001046620 | Esophagus | ESCC | negative regulation of peptidase activity | 140/8552 | 262/18723 | 6.73e-03 | 2.46e-02 | 140 |
GO:001095119 | Esophagus | ESCC | negative regulation of endopeptidase activity | 135/8552 | 252/18723 | 6.86e-03 | 2.51e-02 | 135 |
GO:005254720 | Oral cavity | OSCC | regulation of peptidase activity | 255/7305 | 461/18723 | 5.78e-13 | 2.75e-11 | 255 |
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 | rs886043336 | c.5522N>C | p.Leu1841Pro | p.L1841P | P12111 | protein_coding | deleterious(0) | possibly_damaging(0.823) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL6A3 | SNV | Missense_Mutation | | c.5014G>C | p.Asp1672His | p.D1672H | P12111 | protein_coding | deleterious(0.01) | possibly_damaging(0.65) | TCGA-AN-A0FV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL6A3 | SNV | Missense_Mutation | | c.7151N>G | p.Lys2384Arg | p.K2384R | P12111 | protein_coding | tolerated(0.65) | benign(0.305) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
COL6A3 | SNV | Missense_Mutation | | c.3317N>T | p.Pro1106Leu | p.P1106L | P12111 | protein_coding | tolerated(1) | benign(0.003) | TCGA-D8-A1JD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL6A3 | SNV | Missense_Mutation | novel | c.8006A>G | p.His2669Arg | p.H2669R | P12111 | protein_coding | deleterious(0.01) | probably_damaging(0.983) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL6A3 | SNV | Missense_Mutation | | c.6647N>T | p.Gly2216Val | p.G2216V | P12111 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EW-A1PD-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Chemotherapy | docetaxel | SD |
COL6A3 | SNV | Missense_Mutation | novel | c.8852C>G | p.Ala2951Gly | p.A2951G | P12111 | protein_coding | tolerated(0.11) | benign(0.034) | TCGA-EW-A6SC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | aromatase | SD |
COL6A3 | insertion | In_Frame_Ins | novel | c.7472_7473insAGTTAA | p.Met2491delinsIleValLys | p.M2491delinsIVK | P12111 | protein_coding | | | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL6A3 | insertion | Nonsense_Mutation | novel | c.7470_7471insTTCTTTGCTTGAGCTCTGGGCACAAAAGTGGAGTTTG | p.Met2491PhefsTer4 | p.M2491Ffs*4 | P12111 | protein_coding | | | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL6A3 | insertion | Nonsense_Mutation | novel | c.2174_2175insAT | p.Tyr725Ter | p.Y725* | P12111 | protein_coding | | | TCGA-A8-A08G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |