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/ATP13A2_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/ATP13A2_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/ATP13A2_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/ATP13A2_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/ATP13A2_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/ATP13A2_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:190018016 | Oral cavity | LP | regulation of protein localization to nucleus | 69/4623 | 136/18723 | 4.85e-11 | 3.07e-09 | 69 |
GO:190300815 | Oral cavity | LP | organelle disassembly | 60/4623 | 114/18723 | 1.28e-10 | 7.30e-09 | 60 |
GO:0052548110 | Oral cavity | LP | regulation of endopeptidase activity | 164/4623 | 432/18723 | 4.33e-10 | 2.20e-08 | 164 |
GO:0051222110 | Oral cavity | LP | positive regulation of protein transport | 123/4623 | 303/18723 | 6.05e-10 | 2.96e-08 | 123 |
GO:000703415 | Oral cavity | LP | vacuolar transport | 74/4623 | 157/18723 | 7.85e-10 | 3.70e-08 | 74 |
GO:0009895110 | Oral cavity | LP | negative regulation of catabolic process | 128/4623 | 320/18723 | 8.36e-10 | 3.91e-08 | 128 |
GO:0031330110 | Oral cavity | LP | negative regulation of cellular catabolic process | 107/4623 | 262/18723 | 5.25e-09 | 2.16e-07 | 107 |
GO:0062197110 | Oral cavity | LP | cellular response to chemical stress | 130/4623 | 337/18723 | 8.94e-09 | 3.52e-07 | 130 |
GO:000703313 | Oral cavity | LP | vacuole organization | 79/4623 | 180/18723 | 1.26e-08 | 4.74e-07 | 79 |
GO:0070997110 | Oral cavity | LP | neuron death | 135/4623 | 361/18723 | 4.31e-08 | 1.52e-06 | 135 |
GO:001082118 | Oral cavity | LP | regulation of mitochondrion organization | 65/4623 | 144/18723 | 6.61e-08 | 2.24e-06 | 65 |
GO:0034599110 | Oral cavity | LP | cellular response to oxidative stress | 110/4623 | 288/18723 | 2.19e-07 | 6.65e-06 | 110 |
GO:000042215 | Oral cavity | LP | autophagy of mitochondrion | 41/4623 | 81/18723 | 4.23e-07 | 1.21e-05 | 41 |
GO:006172615 | Oral cavity | LP | mitochondrion disassembly | 41/4623 | 81/18723 | 4.23e-07 | 1.21e-05 | 41 |
GO:001624113 | Oral cavity | LP | regulation of macroautophagy | 61/4623 | 141/18723 | 1.00e-06 | 2.50e-05 | 61 |
GO:0042177110 | Oral cavity | LP | negative regulation of protein catabolic process | 54/4623 | 121/18723 | 1.28e-06 | 3.13e-05 | 54 |
GO:190503711 | Oral cavity | LP | autophagosome organization | 47/4623 | 103/18723 | 2.88e-06 | 6.28e-05 | 47 |
GO:1901214110 | Oral cavity | LP | regulation of neuron death | 115/4623 | 319/18723 | 3.39e-06 | 7.19e-05 | 115 |
GO:000704114 | Oral cavity | LP | lysosomal transport | 49/4623 | 114/18723 | 1.38e-05 | 2.45e-04 | 49 |
GO:006168415 | Oral cavity | LP | chaperone-mediated autophagy | 12/4623 | 16/18723 | 3.30e-05 | 5.02e-04 | 12 |
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 |
ATP13A2 | SNV | Missense_Mutation | novel | c.833N>G | p.Thr278Ser | p.T278S | Q9NQ11 | protein_coding | tolerated(0.08) | probably_damaging(0.969) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
ATP13A2 | SNV | Missense_Mutation | rs754208001 | c.2368G>A | p.Glu790Lys | p.E790K | Q9NQ11 | protein_coding | tolerated(0.94) | benign(0.007) | TCGA-D8-A27L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin+cuclophosphamide | SD |
ATP13A2 | insertion | Frame_Shift_Ins | novel | c.2507_2508insGACTCCGTCTCAAAAAATAGTAATAGGCCAGGCGCGGT | p.His836GlnfsTer64 | p.H836Qfs*64 | Q9NQ11 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
ATP13A2 | deletion | Frame_Shift_Del | novel | c.1750delG | p.Val584SerfsTer19 | p.V584Sfs*19 | Q9NQ11 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ATP13A2 | SNV | Missense_Mutation | rs776601823 | c.515G>A | p.Arg172His | p.R172H | Q9NQ11 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ATP13A2 | SNV | Missense_Mutation | rs144701072 | c.2629N>A | p.Gly877Arg | p.G877R | Q9NQ11 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ATP13A2 | SNV | Missense_Mutation | | c.853N>G | p.Leu285Val | p.L285V | Q9NQ11 | protein_coding | deleterious(0) | possibly_damaging(0.856) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ATP13A2 | SNV | Missense_Mutation | rs776601823 | c.515G>A | p.Arg172His | p.R172H | Q9NQ11 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-JW-AAVH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ATP13A2 | SNV | Missense_Mutation | | c.278G>A | p.Arg93Lys | p.R93K | Q9NQ11 | protein_coding | tolerated(0.39) | benign(0.003) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ATP13A2 | SNV | Missense_Mutation | | c.151C>T | p.His51Tyr | p.H51Y | Q9NQ11 | protein_coding | tolerated(0.27) | benign(0.023) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |