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:00030075 | Thyroid | ATC | heart morphogenesis | 110/6293 | 246/18723 | 1.76e-04 | 1.20e-03 | 110 |
GO:004566912 | Thyroid | ATC | positive regulation of osteoblast differentiation | 38/6293 | 69/18723 | 1.97e-04 | 1.31e-03 | 38 |
GO:000661212 | Thyroid | ATC | protein targeting to membrane | 64/6293 | 131/18723 | 2.11e-04 | 1.39e-03 | 64 |
GO:009009014 | Thyroid | ATC | negative regulation of canonical Wnt signaling pathway | 66/6293 | 137/18723 | 2.82e-04 | 1.80e-03 | 66 |
GO:004340513 | Thyroid | ATC | regulation of MAP kinase activity | 82/6293 | 177/18723 | 2.87e-04 | 1.83e-03 | 82 |
GO:007030226 | Thyroid | ATC | regulation of stress-activated protein kinase signaling cascade | 89/6293 | 195/18723 | 3.05e-04 | 1.93e-03 | 89 |
GO:010610621 | Thyroid | ATC | cold-induced thermogenesis | 68/6293 | 144/18723 | 4.70e-04 | 2.76e-03 | 68 |
GO:012016121 | Thyroid | ATC | regulation of cold-induced thermogenesis | 68/6293 | 144/18723 | 4.70e-04 | 2.76e-03 | 68 |
GO:003287226 | Thyroid | ATC | regulation of stress-activated MAPK cascade | 87/6293 | 192/18723 | 4.72e-04 | 2.77e-03 | 87 |
GO:001692513 | Thyroid | ATC | protein sumoylation | 30/6293 | 53/18723 | 4.84e-04 | 2.83e-03 | 30 |
GO:190236923 | Thyroid | ATC | negative regulation of RNA catabolic process | 39/6293 | 75/18723 | 7.65e-04 | 4.23e-03 | 39 |
GO:009030324 | Thyroid | ATC | positive regulation of wound healing | 32/6293 | 59/18723 | 8.74e-04 | 4.72e-03 | 32 |
GO:004802633 | Thyroid | ATC | positive regulation of mRNA splicing, via spliceosome | 15/6293 | 22/18723 | 9.63e-04 | 5.13e-03 | 15 |
GO:000181924 | Thyroid | ATC | positive regulation of cytokine production | 189/6293 | 467/18723 | 1.00e-03 | 5.31e-03 | 189 |
GO:200024914 | Thyroid | ATC | regulation of actin cytoskeleton reorganization | 23/6293 | 39/18723 | 1.01e-03 | 5.34e-03 | 23 |
GO:000651314 | Thyroid | ATC | protein monoubiquitination | 35/6293 | 67/18723 | 1.26e-03 | 6.58e-03 | 35 |
GO:190303624 | Thyroid | ATC | positive regulation of response to wounding | 37/6293 | 72/18723 | 1.37e-03 | 7.12e-03 | 37 |
GO:000633813 | Thyroid | ATC | chromatin remodeling | 109/6293 | 255/18723 | 1.38e-03 | 7.15e-03 | 109 |
GO:000320612 | Thyroid | ATC | cardiac chamber morphogenesis | 57/6293 | 121/18723 | 1.39e-03 | 7.20e-03 | 57 |
GO:190002713 | Thyroid | ATC | regulation of ruffle assembly | 19/6293 | 31/18723 | 1.45e-03 | 7.47e-03 | 19 |
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 |