Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/SMG6_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/SMG6_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/SMG6_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/SMG6_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/SMG6_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | ![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/Lung/SMG6_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/SMG6_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/SMG6_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:000700416 | Oral cavity | LP | telomere maintenance via telomerase | 32/4623 | 69/18723 | 7.20e-05 | 9.49e-04 | 32 |
GO:001083317 | Oral cavity | LP | telomere maintenance via telomere lengthening | 36/4623 | 81/18723 | 7.97e-05 | 1.03e-03 | 36 |
GO:00903051 | Oral cavity | LP | nucleic acid phosphodiester bond hydrolysis | 92/4623 | 261/18723 | 8.07e-05 | 1.04e-03 | 92 |
GO:000640611 | Oral cavity | LP | mRNA export from nucleus | 28/4623 | 59/18723 | 1.22e-04 | 1.43e-03 | 28 |
GO:007142711 | Oral cavity | LP | mRNA-containing ribonucleoprotein complex export from nucleus | 28/4623 | 59/18723 | 1.22e-04 | 1.43e-03 | 28 |
GO:003220013 | Oral cavity | LP | telomere organization | 59/4623 | 159/18723 | 3.21e-04 | 3.25e-03 | 59 |
GO:000018413 | Oral cavity | LP | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19/4623 | 37/18723 | 4.25e-04 | 4.08e-03 | 19 |
GO:000627815 | Oral cavity | LP | RNA-dependent DNA biosynthetic process | 32/4623 | 75/18723 | 4.78e-04 | 4.49e-03 | 32 |
GO:005197216 | Oral cavity | LP | regulation of telomerase activity | 21/4623 | 47/18723 | 2.17e-03 | 1.58e-02 | 21 |
GO:190435615 | Oral cavity | LP | regulation of telomere maintenance via telomere lengthening | 25/4623 | 61/18723 | 3.68e-03 | 2.44e-02 | 25 |
GO:003221015 | Oral cavity | LP | regulation of telomere maintenance via telomerase | 22/4623 | 53/18723 | 5.20e-03 | 3.19e-02 | 22 |
GO:00905021 | Oral cavity | LP | RNA phosphodiester bond hydrolysis, endonucleolytic | 31/4623 | 82/18723 | 5.66e-03 | 3.41e-02 | 31 |
GO:000640224 | Oral cavity | EOLP | mRNA catabolic process | 74/2218 | 232/18723 | 3.36e-16 | 2.51e-13 | 74 |
GO:000691323 | Oral cavity | EOLP | nucleocytoplasmic transport | 87/2218 | 301/18723 | 7.30e-16 | 4.37e-13 | 87 |
GO:005116923 | Oral cavity | EOLP | nuclear transport | 87/2218 | 301/18723 | 7.30e-16 | 4.37e-13 | 87 |
GO:000640124 | Oral cavity | EOLP | RNA catabolic process | 77/2218 | 278/18723 | 3.92e-13 | 1.12e-10 | 77 |
GO:000640323 | Oral cavity | EOLP | RNA localization | 57/2218 | 201/18723 | 1.62e-10 | 1.68e-08 | 57 |
GO:005116824 | Oral cavity | EOLP | nuclear export | 47/2218 | 154/18723 | 4.45e-10 | 3.76e-08 | 47 |
GO:001593121 | Oral cavity | EOLP | nucleobase-containing compound transport | 58/2218 | 222/18723 | 3.44e-09 | 2.10e-07 | 58 |
GO:005065721 | Oral cavity | EOLP | nucleic acid transport | 47/2218 | 163/18723 | 3.53e-09 | 2.12e-07 | 47 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa03015 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
hsa030151 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
hsa030152 | Colorectum | FAP | mRNA surveillance pathway | 26/1404 | 97/8465 | 7.11e-03 | 2.64e-02 | 1.60e-02 | 26 |
hsa030153 | Colorectum | FAP | mRNA surveillance pathway | 26/1404 | 97/8465 | 7.11e-03 | 2.64e-02 | 1.60e-02 | 26 |
hsa0301524 | Esophagus | ESCC | mRNA surveillance pathway | 72/4205 | 97/8465 | 6.12e-07 | 4.10e-06 | 2.10e-06 | 72 |
hsa0301534 | Esophagus | ESCC | mRNA surveillance pathway | 72/4205 | 97/8465 | 6.12e-07 | 4.10e-06 | 2.10e-06 | 72 |
hsa030158 | Oral cavity | OSCC | mRNA surveillance pathway | 75/3704 | 97/8465 | 1.30e-11 | 2.01e-10 | 1.02e-10 | 75 |
hsa0301513 | Oral cavity | OSCC | mRNA surveillance pathway | 75/3704 | 97/8465 | 1.30e-11 | 2.01e-10 | 1.02e-10 | 75 |
hsa0301523 | Oral cavity | LP | mRNA surveillance pathway | 50/2418 | 97/8465 | 1.39e-06 | 1.50e-05 | 9.66e-06 | 50 |
hsa0301533 | Oral cavity | LP | mRNA surveillance pathway | 50/2418 | 97/8465 | 1.39e-06 | 1.50e-05 | 9.66e-06 | 50 |
hsa0301541 | Oral cavity | EOLP | mRNA surveillance pathway | 30/1218 | 97/8465 | 2.26e-05 | 1.20e-04 | 7.07e-05 | 30 |
hsa0301551 | Oral cavity | EOLP | mRNA surveillance pathway | 30/1218 | 97/8465 | 2.26e-05 | 1.20e-04 | 7.07e-05 | 30 |
hsa030156 | Oral cavity | NEOLP | mRNA surveillance pathway | 25/1112 | 97/8465 | 5.70e-04 | 3.18e-03 | 2.00e-03 | 25 |
hsa030157 | Oral cavity | NEOLP | mRNA surveillance pathway | 25/1112 | 97/8465 | 5.70e-04 | 3.18e-03 | 2.00e-03 | 25 |
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 |
SMG6 | SNV | Missense_Mutation | | c.1631N>G | p.Tyr544Cys | p.Y544C | Q86US8 | protein_coding | tolerated(0.09) | possibly_damaging(0.894) | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMG6 | SNV | Missense_Mutation | | c.3957N>C | p.Glu1319Asp | p.E1319D | Q86US8 | protein_coding | tolerated(0.07) | probably_damaging(0.985) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SMG6 | SNV | Missense_Mutation | novel | c.812N>T | p.Ala271Val | p.A271V | Q86US8 | protein_coding | tolerated_low_confidence(1) | benign(0.014) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SMG6 | SNV | Missense_Mutation | | c.93N>A | p.Asn31Lys | p.N31K | Q86US8 | protein_coding | tolerated_low_confidence(0.05) | benign(0.115) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
SMG6 | SNV | Missense_Mutation | novel | c.3606N>G | p.Ile1202Met | p.I1202M | Q86US8 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-OL-A5RW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
SMG6 | SNV | Missense_Mutation | novel | c.1133C>T | p.Pro378Leu | p.P378L | Q86US8 | protein_coding | tolerated_low_confidence(0.25) | benign(0) | TCGA-OL-A5RZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
SMG6 | SNV | Missense_Mutation | novel | c.1132C>A | p.Pro378Thr | p.P378T | Q86US8 | protein_coding | tolerated_low_confidence(0.24) | benign(0) | TCGA-OL-A5RZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
SMG6 | SNV | Missense_Mutation | novel | c.995C>T | p.Ser332Phe | p.S332F | Q86US8 | protein_coding | deleterious_low_confidence(0.02) | benign(0.135) | TCGA-OL-A5RZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
SMG6 | insertion | Nonsense_Mutation | novel | c.1062_1063insTTATAGTAA | p.Phe354_Asp355insLeuTerTer | p.F354_D355insL** | Q86US8 | protein_coding | | | TCGA-A8-A096-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMG6 | insertion | Frame_Shift_Ins | novel | c.1061_1062insGAAA | p.Phe354LeufsTer20 | p.F354Lfs*20 | Q86US8 | protein_coding | | | TCGA-A8-A096-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |