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:1901214113 | Thyroid | PTC | regulation of neuron death | 151/5968 | 319/18723 | 4.74e-09 | 1.24e-07 | 151 |
GO:0042060112 | Thyroid | PTC | wound healing | 190/5968 | 422/18723 | 7.72e-09 | 1.92e-07 | 190 |
GO:190353310 | Thyroid | PTC | regulation of protein targeting | 51/5968 | 81/18723 | 8.40e-09 | 2.07e-07 | 51 |
GO:0045860111 | Thyroid | PTC | positive regulation of protein kinase activity | 176/5968 | 386/18723 | 8.89e-09 | 2.17e-07 | 176 |
GO:001050810 | Thyroid | PTC | positive regulation of autophagy | 70/5968 | 124/18723 | 1.30e-08 | 3.08e-07 | 70 |
GO:0060828110 | Thyroid | PTC | regulation of canonical Wnt signaling pathway | 123/5968 | 253/18723 | 1.83e-08 | 4.26e-07 | 123 |
GO:1904375111 | Thyroid | PTC | regulation of protein localization to cell periphery | 70/5968 | 125/18723 | 2.04e-08 | 4.71e-07 | 70 |
GO:190547525 | Thyroid | PTC | regulation of protein localization to membrane | 91/5968 | 175/18723 | 2.41e-08 | 5.43e-07 | 91 |
GO:0071900110 | Thyroid | PTC | regulation of protein serine/threonine kinase activity | 164/5968 | 359/18723 | 2.41e-08 | 5.43e-07 | 164 |
GO:000632520 | Thyroid | PTC | chromatin organization | 183/5968 | 409/18723 | 2.55e-08 | 5.70e-07 | 183 |
GO:0048732113 | Thyroid | PTC | gland development | 193/5968 | 436/18723 | 2.88e-08 | 6.42e-07 | 193 |
GO:0001889112 | Thyroid | PTC | liver development | 79/5968 | 147/18723 | 3.08e-08 | 6.82e-07 | 79 |
GO:0061008112 | Thyroid | PTC | hepaticobiliary system development | 80/5968 | 150/18723 | 3.94e-08 | 8.55e-07 | 80 |
GO:001021219 | Thyroid | PTC | response to ionizing radiation | 79/5968 | 148/18723 | 4.56e-08 | 9.74e-07 | 79 |
GO:0071375110 | Thyroid | PTC | cellular response to peptide hormone stimulus | 136/5968 | 290/18723 | 5.49e-08 | 1.17e-06 | 136 |
GO:0060070110 | Thyroid | PTC | canonical Wnt signaling pathway | 141/5968 | 303/18723 | 5.71e-08 | 1.21e-06 | 141 |
GO:003052228 | Thyroid | PTC | intracellular receptor signaling pathway | 126/5968 | 265/18723 | 6.31e-08 | 1.31e-06 | 126 |
GO:0032092110 | Thyroid | PTC | positive regulation of protein binding | 51/5968 | 85/18723 | 8.36e-08 | 1.70e-06 | 51 |
GO:0071479112 | Thyroid | PTC | cellular response to ionizing radiation | 45/5968 | 72/18723 | 8.65e-08 | 1.75e-06 | 45 |
GO:0051402112 | Thyroid | PTC | neuron apoptotic process | 118/5968 | 246/18723 | 8.99e-08 | 1.81e-06 | 118 |
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 |