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/AUP1_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/AUP1_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/AUP1_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/AUP1_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/AUP1_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/AUP1_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/AUP1_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:003596725 | Esophagus | HGIN | cellular response to topologically incorrect protein | 41/2587 | 116/18723 | 4.07e-09 | 2.84e-07 | 41 |
GO:001623616 | Esophagus | HGIN | macroautophagy | 77/2587 | 291/18723 | 7.15e-09 | 4.61e-07 | 77 |
GO:005123520 | Esophagus | HGIN | maintenance of location | 73/2587 | 327/18723 | 1.73e-05 | 4.71e-04 | 73 |
GO:00309706 | Esophagus | HGIN | retrograde protein transport, ER to cytosol | 12/2587 | 29/18723 | 2.48e-04 | 4.38e-03 | 12 |
GO:19035136 | Esophagus | HGIN | endoplasmic reticulum to cytosol transport | 12/2587 | 29/18723 | 2.48e-04 | 4.38e-03 | 12 |
GO:00365036 | Esophagus | HGIN | ERAD pathway | 27/2587 | 107/18723 | 1.15e-03 | 1.39e-02 | 27 |
GO:00325277 | Esophagus | HGIN | protein exit from endoplasmic reticulum | 15/2587 | 48/18723 | 1.49e-03 | 1.73e-02 | 15 |
GO:00619128 | Esophagus | HGIN | selective autophagy | 19/2587 | 68/18723 | 1.68e-03 | 1.85e-02 | 19 |
GO:00304335 | Esophagus | HGIN | ubiquitin-dependent ERAD pathway | 22/2587 | 85/18723 | 2.24e-03 | 2.31e-02 | 22 |
GO:00717124 | Esophagus | HGIN | ER-associated misfolded protein catabolic process | 6/2587 | 12/18723 | 3.03e-03 | 2.88e-02 | 6 |
GO:000961517 | Esophagus | HGIN | response to virus | 69/2587 | 367/18723 | 4.39e-03 | 3.86e-02 | 69 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:000961518 | Esophagus | ESCC | response to virus | 238/8552 | 367/18723 | 6.65e-14 | 3.32e-12 | 238 |
GO:0035967111 | Esophagus | ESCC | cellular response to topologically incorrect protein | 90/8552 | 116/18723 | 1.94e-12 | 8.11e-11 | 90 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:003043314 | Esophagus | ESCC | ubiquitin-dependent ERAD pathway | 66/8552 | 85/18723 | 1.64e-09 | 3.78e-08 | 66 |
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 |
AUP1 | SNV | Missense_Mutation | | c.1003N>C | p.Glu335Gln | p.E335Q | Q9Y679 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
AUP1 | SNV | Missense_Mutation | | c.340N>T | p.Pro114Ser | p.P114S | Q9Y679 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A7-A13D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
AUP1 | SNV | Missense_Mutation | novel | c.896C>T | p.Thr299Ile | p.T299I | Q9Y679 | protein_coding | tolerated(0.18) | benign(0) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
AUP1 | insertion | Frame_Shift_Ins | novel | c.704_705insGAATGGAATTATGGAGCTACTACGGCAAAGCCTGAATAATATC | p.Ala236AsnfsTer17 | p.A236Nfs*17 | Q9Y679 | protein_coding | | | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AUP1 | insertion | In_Frame_Ins | novel | c.897_898insTTTATATTTTTTGCCATGTTGCCC | p.Thr299_Leu300insPheIlePhePheAlaMetLeuPro | p.T299_L300insFIFFAMLP | Q9Y679 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
AUP1 | SNV | Missense_Mutation | novel | c.4G>A | p.Glu2Lys | p.E2K | Q9Y679 | protein_coding | deleterious_low_confidence(0.02) | benign(0.001) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AUP1 | SNV | Missense_Mutation | rs755973491 | c.679N>T | p.Arg227Cys | p.R227C | Q9Y679 | protein_coding | deleterious(0) | benign(0.292) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AUP1 | SNV | Missense_Mutation | | c.40N>C | p.Asp14His | p.D14H | Q9Y679 | protein_coding | tolerated(0.14) | probably_damaging(0.971) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
AUP1 | SNV | Missense_Mutation | novel | c.43N>C | p.Ser15Pro | p.S15P | Q9Y679 | protein_coding | tolerated(0.21) | possibly_damaging(0.736) | TCGA-5M-AAT5-01 | Colorectum | colon adenocarcinoma | Unknown | Unknown | I/II | Unknown | Unknown | Unknown |
AUP1 | SNV | Missense_Mutation | rs746000640 | c.1145N>A | p.Arg382Gln | p.R382Q | Q9Y679 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |