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:005109927 | Skin | cSCC | positive regulation of binding | 74/4864 | 173/18723 | 1.09e-06 | 1.93e-05 | 74 |
GO:0000381110 | Skin | cSCC | regulation of alternative mRNA splicing, via spliceosome | 33/4864 | 60/18723 | 1.66e-06 | 2.79e-05 | 33 |
GO:000756827 | Skin | cSCC | aging | 127/4864 | 339/18723 | 1.80e-06 | 3.02e-05 | 127 |
GO:004206029 | Skin | cSCC | wound healing | 152/4864 | 422/18723 | 2.66e-06 | 4.26e-05 | 152 |
GO:007099729 | Skin | cSCC | neuron death | 133/4864 | 361/18723 | 2.91e-06 | 4.58e-05 | 133 |
GO:001021225 | Skin | cSCC | response to ionizing radiation | 64/4864 | 148/18723 | 3.64e-06 | 5.50e-05 | 64 |
GO:001605524 | Skin | cSCC | Wnt signaling pathway | 158/4864 | 444/18723 | 3.80e-06 | 5.70e-05 | 158 |
GO:000632519 | Skin | cSCC | chromatin organization | 147/4864 | 409/18723 | 4.41e-06 | 6.52e-05 | 147 |
GO:1901654112 | Skin | cSCC | response to ketone | 79/4864 | 194/18723 | 4.82e-06 | 7.06e-05 | 79 |
GO:019873824 | Skin | cSCC | cell-cell signaling by wnt | 158/4864 | 446/18723 | 5.08e-06 | 7.38e-05 | 158 |
GO:004802619 | Skin | cSCC | positive regulation of mRNA splicing, via spliceosome | 16/4864 | 22/18723 | 5.92e-06 | 8.44e-05 | 16 |
GO:007189718 | Skin | cSCC | DNA biosynthetic process | 74/4864 | 180/18723 | 6.33e-06 | 8.92e-05 | 74 |
GO:004339325 | Skin | cSCC | regulation of protein binding | 79/4864 | 196/18723 | 7.59e-06 | 1.04e-04 | 79 |
GO:190547524 | Skin | cSCC | regulation of protein localization to membrane | 72/4864 | 175/18723 | 8.12e-06 | 1.09e-04 | 72 |
GO:003297029 | Skin | cSCC | regulation of actin filament-based process | 142/4864 | 397/18723 | 8.50e-06 | 1.13e-04 | 142 |
GO:000164923 | Skin | cSCC | osteoblast differentiation | 89/4864 | 229/18723 | 1.18e-05 | 1.51e-04 | 89 |
GO:19035339 | Skin | cSCC | regulation of protein targeting | 39/4864 | 81/18723 | 1.46e-05 | 1.81e-04 | 39 |
GO:004851123 | Skin | cSCC | rhythmic process | 110/4864 | 298/18723 | 1.83e-05 | 2.19e-04 | 110 |
GO:003295629 | Skin | cSCC | regulation of actin cytoskeleton organization | 127/4864 | 358/18723 | 3.83e-05 | 4.13e-04 | 127 |
GO:0051495110 | Skin | cSCC | positive regulation of cytoskeleton organization | 86/4864 | 226/18723 | 4.08e-05 | 4.34e-04 | 86 |
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 |