Tissue | Expression Dynamics | Abbreviation |
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/AASDHPPT_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/AASDHPPT_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/AASDHPPT_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/AASDHPPT_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/AASDHPPT_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:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:00086525 | Esophagus | ESCC | cellular amino acid biosynthetic process | 51/8552 | 76/18723 | 1.30e-04 | 8.88e-04 | 51 |
GO:00067671 | Esophagus | ESCC | water-soluble vitamin metabolic process | 41/8552 | 59/18723 | 1.84e-04 | 1.17e-03 | 41 |
GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
GO:19016075 | Esophagus | ESCC | alpha-amino acid biosynthetic process | 45/8552 | 68/18723 | 5.13e-04 | 2.84e-03 | 45 |
GO:00090674 | Esophagus | ESCC | aspartate family amino acid biosynthetic process | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
GO:001605312 | Liver | Cirrhotic | organic acid biosynthetic process | 139/4634 | 316/18723 | 4.28e-14 | 3.83e-12 | 139 |
GO:004639412 | Liver | Cirrhotic | carboxylic acid biosynthetic process | 137/4634 | 314/18723 | 1.40e-13 | 1.14e-11 | 137 |
GO:19016051 | Liver | Cirrhotic | alpha-amino acid metabolic process | 82/4634 | 195/18723 | 7.72e-08 | 2.30e-06 | 82 |
GO:000652011 | Liver | Cirrhotic | cellular amino acid metabolic process | 103/4634 | 284/18723 | 8.88e-06 | 1.30e-04 | 103 |
GO:00086521 | Liver | Cirrhotic | cellular amino acid biosynthetic process | 36/4634 | 76/18723 | 1.55e-05 | 2.11e-04 | 36 |
GO:19016071 | Liver | Cirrhotic | alpha-amino acid biosynthetic process | 33/4634 | 68/18723 | 1.84e-05 | 2.49e-04 | 33 |
GO:000657511 | Liver | Cirrhotic | cellular modified amino acid metabolic process | 70/4634 | 188/18723 | 9.04e-05 | 9.69e-04 | 70 |
GO:00090661 | Liver | Cirrhotic | aspartate family amino acid metabolic process | 21/4634 | 49/18723 | 4.13e-03 | 2.21e-02 | 21 |
GO:00090671 | Liver | Cirrhotic | aspartate family amino acid biosynthetic process | 11/4634 | 21/18723 | 5.89e-03 | 2.95e-02 | 11 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
GO:004639421 | Liver | HCC | carboxylic acid biosynthetic process | 198/7958 | 314/18723 | 1.19e-13 | 6.78e-12 | 198 |
GO:00086522 | Liver | HCC | cellular amino acid biosynthetic process | 58/7958 | 76/18723 | 1.98e-09 | 5.63e-08 | 58 |
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 |
AASDHPPT | SNV | Missense_Mutation | | c.27N>G | p.Cys9Trp | p.C9W | Q9NRN7 | protein_coding | deleterious_low_confidence(0.01) | benign(0) | TCGA-AR-A1AQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
AASDHPPT | SNV | Missense_Mutation | | c.604N>G | p.Leu202Val | p.L202V | Q9NRN7 | protein_coding | tolerated(1) | benign(0) | TCGA-BH-A0B0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
AASDHPPT | SNV | Missense_Mutation | novel | c.94G>A | p.Glu32Lys | p.E32K | Q9NRN7 | protein_coding | deleterious(0.01) | benign(0.328) | TCGA-C8-A3M7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
AASDHPPT | SNV | Missense_Mutation | | c.622N>C | p.Asp208His | p.D208H | Q9NRN7 | protein_coding | deleterious(0.04) | benign(0.005) | TCGA-E9-A22E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD |
AASDHPPT | deletion | Frame_Shift_Del | novel | c.208delN | p.Leu70Ter | p.L70* | Q9NRN7 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AASDHPPT | deletion | Frame_Shift_Del | novel | c.11_23delNNNNNNNNNNNNN | p.Lys6TrpfsTer56 | p.K6Wfs*56 | Q9NRN7 | protein_coding | | | TCGA-E9-A5FL-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AASDHPPT | SNV | Missense_Mutation | rs761620246 | c.911N>A | p.Arg304Gln | p.R304Q | Q9NRN7 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.676) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AASDHPPT | SNV | Missense_Mutation | novel | c.94N>A | p.Glu32Lys | p.E32K | Q9NRN7 | protein_coding | deleterious(0.01) | benign(0.328) | TCGA-VS-A9UZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
AASDHPPT | SNV | Missense_Mutation | | c.412C>T | p.Arg138Cys | p.R138C | Q9NRN7 | protein_coding | tolerated(0.05) | possibly_damaging(0.85) | TCGA-AA-3680-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | PD |
AASDHPPT | SNV | Missense_Mutation | | c.878N>T | p.Asp293Val | p.D293V | Q9NRN7 | protein_coding | deleterious(0.04) | benign(0.067) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |