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/AK2_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/AK2_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/AK2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/AK2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/AK2_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/AK2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/AK2_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:00364735 | Colorectum | CRC | cell death in response to oxidative stress | 21/2078 | 95/18723 | 1.48e-03 | 1.58e-02 | 21 |
GO:00066065 | Colorectum | CRC | protein import into nucleus | 30/2078 | 155/18723 | 1.67e-03 | 1.73e-02 | 30 |
GO:00353045 | Colorectum | CRC | regulation of protein dephosphorylation | 20/2078 | 90/18723 | 1.77e-03 | 1.82e-02 | 20 |
GO:19045913 | Colorectum | CRC | positive regulation of protein import | 12/2078 | 43/18723 | 1.93e-03 | 1.96e-02 | 12 |
GO:00230611 | Colorectum | CRC | signal release | 72/2078 | 463/18723 | 1.95e-03 | 1.96e-02 | 72 |
GO:00435234 | Colorectum | CRC | regulation of neuron apoptotic process | 38/2078 | 212/18723 | 1.95e-03 | 1.96e-02 | 38 |
GO:00705275 | Colorectum | CRC | platelet aggregation | 16/2078 | 67/18723 | 2.27e-03 | 2.19e-02 | 16 |
GO:00341101 | Colorectum | CRC | regulation of homotypic cell-cell adhesion | 10/2078 | 33/18723 | 2.32e-03 | 2.23e-02 | 10 |
GO:00716924 | Colorectum | CRC | protein localization to extracellular region | 59/2078 | 368/18723 | 2.37e-03 | 2.27e-02 | 59 |
GO:00435241 | Colorectum | CRC | negative regulation of neuron apoptotic process | 28/2078 | 145/18723 | 2.43e-03 | 2.30e-02 | 28 |
GO:00016591 | Colorectum | CRC | temperature homeostasis | 32/2078 | 174/18723 | 2.81e-03 | 2.55e-02 | 32 |
GO:19035323 | Colorectum | CRC | positive regulation of secretion by cell | 47/2078 | 282/18723 | 2.91e-03 | 2.64e-02 | 47 |
GO:00511003 | Colorectum | CRC | negative regulation of binding | 30/2078 | 162/18723 | 3.36e-03 | 2.87e-02 | 30 |
GO:00603952 | Colorectum | CRC | SMAD protein signal transduction | 18/2078 | 82/18723 | 3.37e-03 | 2.88e-02 | 18 |
GO:1903522 | Colorectum | CRC | regulation of blood circulation | 43/2078 | 256/18723 | 3.70e-03 | 3.12e-02 | 43 |
GO:19001805 | Colorectum | CRC | regulation of protein localization to nucleus | 26/2078 | 136/18723 | 3.91e-03 | 3.24e-02 | 26 |
GO:00510474 | Colorectum | CRC | positive regulation of secretion | 50/2078 | 310/18723 | 4.31e-03 | 3.47e-02 | 50 |
GO:00308794 | Colorectum | CRC | mammary gland development | 26/2078 | 137/18723 | 4.32e-03 | 3.47e-02 | 26 |
GO:0090330 | Colorectum | CRC | regulation of platelet aggregation | 8/2078 | 25/18723 | 4.33e-03 | 3.47e-02 | 8 |
GO:01061062 | Colorectum | CRC | cold-induced thermogenesis | 27/2078 | 144/18723 | 4.38e-03 | 3.47e-02 | 27 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa012325 | Esophagus | ESCC | Nucleotide metabolism | 59/4205 | 85/8465 | 1.67e-04 | 6.58e-04 | 3.37e-04 | 59 |
hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0123212 | Esophagus | ESCC | Nucleotide metabolism | 59/4205 | 85/8465 | 1.67e-04 | 6.58e-04 | 3.37e-04 | 59 |
hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa01240 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa01232 | Liver | Cirrhotic | Nucleotide metabolism | 39/2530 | 85/8465 | 1.27e-03 | 6.73e-03 | 4.15e-03 | 39 |
hsa012401 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa012321 | Liver | Cirrhotic | Nucleotide metabolism | 39/2530 | 85/8465 | 1.27e-03 | 6.73e-03 | 4.15e-03 | 39 |
hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa012322 | Liver | HCC | Nucleotide metabolism | 59/4020 | 85/8465 | 3.30e-05 | 1.88e-04 | 1.04e-04 | 59 |
hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa012323 | Liver | HCC | Nucleotide metabolism | 59/4020 | 85/8465 | 3.30e-05 | 1.88e-04 | 1.04e-04 | 59 |
hsa012324 | Oral cavity | OSCC | Nucleotide metabolism | 54/3704 | 85/8465 | 1.78e-04 | 5.95e-04 | 3.03e-04 | 54 |
hsa012404 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0123211 | Oral cavity | OSCC | Nucleotide metabolism | 54/3704 | 85/8465 | 1.78e-04 | 5.95e-04 | 3.03e-04 | 54 |
hsa0124011 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0123221 | Oral cavity | LP | Nucleotide metabolism | 42/2418 | 85/8465 | 3.62e-05 | 2.36e-04 | 1.52e-04 | 42 |
hsa0124021 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
hsa0123231 | Oral cavity | LP | Nucleotide metabolism | 42/2418 | 85/8465 | 3.62e-05 | 2.36e-04 | 1.52e-04 | 42 |
hsa0124031 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
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 |
AK2 | insertion | In_Frame_Ins | novel | c.499-1_499insCCCATGAAAGATGAC | p.Pro162_Asp166dup | p.P162_D166dup | P54819 | protein_coding | | | TCGA-AC-A3YI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
AK2 | insertion | Frame_Shift_Ins | novel | c.298_299insATAACACCTGCTTTGAGAA | p.Gly100AspfsTer20 | p.G100Dfs*20 | P54819 | protein_coding | | | TCGA-BH-A0HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
AK2 | insertion | In_Frame_Ins | novel | c.499-1_499insCCCATGAAAGATGAC | p.Pro162_Asp166dup | p.P162_D166dup | P54819 | protein_coding | | | TCGA-D8-A1JG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
AK2 | SNV | Missense_Mutation | novel | c.98N>T | p.Pro33Leu | p.P33L | P54819 | protein_coding | deleterious(0.01) | benign(0.074) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AK2 | SNV | Missense_Mutation | novel | c.353N>T | p.Arg118Met | p.R118M | P54819 | protein_coding | deleterious(0.01) | probably_damaging(0.988) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AK2 | SNV | Missense_Mutation | rs770292274 | c.368N>G | p.Asp123Gly | p.D123G | P54819 | protein_coding | deleterious(0) | benign(0.399) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AK2 | SNV | Missense_Mutation | | c.231N>C | p.Glu77Asp | p.E77D | P54819 | protein_coding | tolerated(1) | benign(0.005) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AK2 | SNV | Missense_Mutation | rs370429097 | c.610N>T | p.Arg204Trp | p.R204W | P54819 | protein_coding | deleterious(0) | possibly_damaging(0.885) | TCGA-D1-A16G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | taxol | PD |
AK2 | SNV | Missense_Mutation | rs765991265 | c.334G>A | p.Asp112Asn | p.D112N | P54819 | protein_coding | deleterious(0.01) | possibly_damaging(0.844) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AK2 | SNV | Missense_Mutation | | c.524G>A | p.Arg175Gln | p.R175Q | P54819 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-BC-A10W-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Chemotherapy | unknown | PD |