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:004677715 | Skin | cSCC | protein autophosphorylation | 84/4864 | 227/18723 | 1.53e-04 | 1.35e-03 | 84 |
GO:004691610 | Skin | cSCC | cellular transition metal ion homeostasis | 48/4864 | 115/18723 | 1.63e-04 | 1.43e-03 | 48 |
GO:190121426 | Skin | cSCC | regulation of neuron death | 112/4864 | 319/18723 | 1.71e-04 | 1.48e-03 | 112 |
GO:0032535111 | Skin | cSCC | regulation of cellular component size | 131/4864 | 383/18723 | 1.89e-04 | 1.59e-03 | 131 |
GO:00610255 | Skin | cSCC | membrane fusion | 63/4864 | 163/18723 | 2.49e-04 | 2.03e-03 | 63 |
GO:007266516 | Skin | cSCC | protein localization to vacuole | 30/4864 | 67/18723 | 6.60e-04 | 4.73e-03 | 30 |
GO:00069064 | Skin | cSCC | vesicle fusion | 43/4864 | 106/18723 | 7.14e-04 | 5.03e-03 | 43 |
GO:00901744 | Skin | cSCC | organelle membrane fusion | 44/4864 | 110/18723 | 8.82e-04 | 6.07e-03 | 44 |
GO:190314615 | Skin | cSCC | regulation of autophagy of mitochondrion | 17/4864 | 33/18723 | 1.50e-03 | 9.36e-03 | 17 |
GO:00068826 | Skin | cSCC | cellular zinc ion homeostasis | 17/4864 | 38/18723 | 9.41e-03 | 4.25e-02 | 17 |
GO:0042176113 | Thyroid | PTC | regulation of protein catabolic process | 231/5968 | 391/18723 | 4.76e-29 | 2.14e-26 | 231 |
GO:0032386111 | Thyroid | PTC | regulation of intracellular transport | 202/5968 | 337/18723 | 1.12e-26 | 3.93e-24 | 202 |
GO:1903362113 | Thyroid | PTC | regulation of cellular protein catabolic process | 162/5968 | 255/18723 | 1.62e-25 | 5.12e-23 | 162 |
GO:0033157112 | Thyroid | PTC | regulation of intracellular protein transport | 149/5968 | 229/18723 | 3.83e-25 | 1.15e-22 | 149 |
GO:0034504111 | Thyroid | PTC | protein localization to nucleus | 170/5968 | 290/18723 | 3.34e-21 | 6.38e-19 | 170 |
GO:0006979113 | Thyroid | PTC | response to oxidative stress | 234/5968 | 446/18723 | 6.97e-20 | 9.77e-18 | 234 |
GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
GO:0016236110 | Thyroid | PTC | macroautophagy | 167/5968 | 291/18723 | 1.51e-19 | 1.91e-17 | 167 |
GO:1904951113 | Thyroid | PTC | positive regulation of establishment of protein localization | 175/5968 | 319/18723 | 1.10e-17 | 1.12e-15 | 175 |
GO:0010506110 | Thyroid | PTC | regulation of autophagy | 172/5968 | 317/18723 | 8.76e-17 | 7.57e-15 | 172 |
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 |