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:0050714 | Colorectum | AD | positive regulation of protein secretion | 42/3918 | 137/18723 | 4.64e-03 | 3.16e-02 | 42 |
GO:0071294 | Colorectum | AD | cellular response to zinc ion | 11/3918 | 24/18723 | 5.43e-03 | 3.55e-02 | 11 |
GO:0048284 | Colorectum | AD | organelle fusion | 42/3918 | 141/18723 | 8.04e-03 | 4.73e-02 | 42 |
GO:00421761 | Colorectum | SER | regulation of protein catabolic process | 126/2897 | 391/18723 | 5.33e-17 | 2.52e-14 | 126 |
GO:19033621 | Colorectum | SER | regulation of cellular protein catabolic process | 91/2897 | 255/18723 | 1.22e-15 | 5.36e-13 | 91 |
GO:00325351 | Colorectum | SER | regulation of cellular component size | 115/2897 | 383/18723 | 3.04e-13 | 1.10e-10 | 115 |
GO:19049511 | Colorectum | SER | positive regulation of establishment of protein localization | 91/2897 | 319/18723 | 1.69e-09 | 1.68e-07 | 91 |
GO:00224111 | Colorectum | SER | cellular component disassembly | 114/2897 | 443/18723 | 1.17e-08 | 9.59e-07 | 114 |
GO:00512221 | Colorectum | SER | positive regulation of protein transport | 85/2897 | 303/18723 | 1.36e-08 | 1.05e-06 | 85 |
GO:00069791 | Colorectum | SER | response to oxidative stress | 114/2897 | 446/18723 | 1.75e-08 | 1.28e-06 | 114 |
GO:00331571 | Colorectum | SER | regulation of intracellular protein transport | 68/2897 | 229/18723 | 3.41e-08 | 2.30e-06 | 68 |
GO:00108211 | Colorectum | SER | regulation of mitochondrion organization | 48/2897 | 144/18723 | 7.51e-08 | 4.70e-06 | 48 |
GO:19001801 | Colorectum | SER | regulation of protein localization to nucleus | 46/2897 | 136/18723 | 8.50e-08 | 5.27e-06 | 46 |
GO:00525471 | Colorectum | SER | regulation of peptidase activity | 114/2897 | 461/18723 | 1.18e-07 | 7.17e-06 | 114 |
GO:00323861 | Colorectum | SER | regulation of intracellular transport | 89/2897 | 337/18723 | 1.34e-07 | 7.96e-06 | 89 |
GO:00162361 | Colorectum | SER | macroautophagy | 79/2897 | 291/18723 | 1.97e-07 | 1.10e-05 | 79 |
GO:00098951 | Colorectum | SER | negative regulation of catabolic process | 84/2897 | 320/18723 | 3.93e-07 | 2.06e-05 | 84 |
GO:00621971 | Colorectum | SER | cellular response to chemical stress | 87/2897 | 337/18723 | 5.33e-07 | 2.59e-05 | 87 |
GO:19901821 | Colorectum | SER | exosomal secretion | 13/2897 | 20/18723 | 7.51e-07 | 3.57e-05 | 13 |
GO:19031461 | Colorectum | SER | regulation of autophagy of mitochondrion | 17/2897 | 33/18723 | 1.53e-06 | 6.86e-05 | 17 |
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 |