Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/HR_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/HR_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/HR_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/HR_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/HR_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:0030308 | Liver | HCC | negative regulation of cell growth | 98/7958 | 188/18723 | 4.74e-03 | 2.02e-02 | 98 |
GO:00551191 | Liver | HCC | relaxation of cardiac muscle | 13/7958 | 17/18723 | 4.77e-03 | 2.02e-02 | 13 |
GO:2000628 | Liver | HCC | regulation of miRNA metabolic process | 10/7958 | 12/18723 | 4.79e-03 | 2.02e-02 | 10 |
GO:00018384 | Liver | HCC | embryonic epithelial tube formation | 66/7958 | 121/18723 | 4.94e-03 | 2.07e-02 | 66 |
GO:00970661 | Liver | HCC | response to thyroid hormone | 18/7958 | 26/18723 | 5.37e-03 | 2.24e-02 | 18 |
GO:003153212 | Liver | HCC | actin cytoskeleton reorganization | 59/7958 | 107/18723 | 5.57e-03 | 2.32e-02 | 59 |
GO:00321471 | Liver | HCC | activation of protein kinase activity | 72/7958 | 134/18723 | 5.61e-03 | 2.33e-02 | 72 |
GO:01200344 | Liver | HCC | positive regulation of plasma membrane bounded cell projection assembly | 58/7958 | 105/18723 | 5.66e-03 | 2.36e-02 | 58 |
GO:001046621 | Liver | HCC | negative regulation of peptidase activity | 132/7958 | 262/18723 | 5.82e-03 | 2.42e-02 | 132 |
GO:00518942 | Liver | HCC | positive regulation of focal adhesion assembly | 19/7958 | 28/18723 | 5.97e-03 | 2.45e-02 | 19 |
GO:003433211 | Liver | HCC | adherens junction organization | 30/7958 | 49/18723 | 6.31e-03 | 2.57e-02 | 30 |
GO:00903141 | Liver | HCC | positive regulation of protein targeting to membrane | 20/7958 | 30/18723 | 6.52e-03 | 2.65e-02 | 20 |
GO:00519172 | Liver | HCC | regulation of fibrinolysis | 11/7958 | 14/18723 | 6.81e-03 | 2.73e-02 | 11 |
GO:190237311 | Liver | HCC | negative regulation of mRNA catabolic process | 37/7958 | 63/18723 | 6.82e-03 | 2.73e-02 | 37 |
GO:00903131 | Liver | HCC | regulation of protein targeting to membrane | 23/7958 | 36/18723 | 7.85e-03 | 3.11e-02 | 23 |
GO:010610611 | Liver | HCC | cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:012016111 | Liver | HCC | regulation of cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:004275211 | Liver | HCC | regulation of circadian rhythm | 65/7958 | 121/18723 | 8.25e-03 | 3.24e-02 | 65 |
GO:00483851 | Liver | HCC | regulation of retinoic acid receptor signaling pathway | 12/7958 | 16/18723 | 8.74e-03 | 3.40e-02 | 12 |
GO:001059111 | Liver | HCC | regulation of lamellipodium assembly | 26/7958 | 42/18723 | 8.76e-03 | 3.41e-02 | 26 |
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 |
HR | SNV | Missense_Mutation | novel | c.1343N>G | p.Glu448Gly | p.E448G | O43593 | protein_coding | tolerated(0.19) | benign(0.255) | TCGA-LL-A73Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
HR | insertion | Frame_Shift_Ins | novel | c.1160_1161insTTTAAGGA | p.Ser388LeufsTer70 | p.S388Lfs*70 | O43593 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HR | insertion | Nonsense_Mutation | novel | c.1158_1159insGGTGGTTACTAGGTTTCTGTGTA | p.His387GlyfsTer4 | p.H387Gfs*4 | O43593 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HR | SNV | Missense_Mutation | novel | c.1749N>C | p.Glu583Asp | p.E583D | O43593 | protein_coding | tolerated(0.43) | benign(0.321) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HR | SNV | Missense_Mutation | novel | c.1518N>C | p.Glu506Asp | p.E506D | O43593 | protein_coding | tolerated(0.23) | probably_damaging(0.978) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HR | insertion | Nonsense_Mutation | novel | c.3434_3435insAAACTAAACAAAAGGAATA | p.Ser1146AsnfsTer2 | p.S1146Nfs*2 | O43593 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
HR | insertion | Frame_Shift_Ins | novel | c.2809_2810insA | p.Leu937HisfsTer9 | p.L937Hfs*9 | O43593 | protein_coding | | | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
HR | SNV | Missense_Mutation | rs139800068 | c.1694N>A | p.Arg565Gln | p.R565Q | O43593 | protein_coding | tolerated(0.39) | probably_damaging(0.992) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
HR | SNV | Missense_Mutation | | c.170N>T | p.Pro57Leu | p.P57L | O43593 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.997) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HR | SNV | Missense_Mutation | rs376088952 | c.2060G>A | p.Arg687Gln | p.R687Q | O43593 | protein_coding | deleterious(0.04) | probably_damaging(0.992) | TCGA-AA-3976-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |