Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/VPS13D_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/VPS13D_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/VPS13D_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/VPS13D_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/VPS13D_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/VPS13D_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/VPS13D_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Prostate | ![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/Prostate/VPS13D_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/VPS13D_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:00725949 | Cervix | CC | establishment of protein localization to organelle | 99/2311 | 422/18723 | 1.23e-10 | 2.11e-08 | 99 |
GO:000989610 | Cervix | CC | positive regulation of catabolic process | 109/2311 | 492/18723 | 5.26e-10 | 6.99e-08 | 109 |
GO:00512359 | Cervix | CC | maintenance of location | 78/2311 | 327/18723 | 5.18e-09 | 4.92e-07 | 78 |
GO:005165110 | Cervix | CC | maintenance of location in cell | 55/2311 | 214/18723 | 6.63e-08 | 3.85e-06 | 55 |
GO:003133110 | Cervix | CC | positive regulation of cellular catabolic process | 91/2311 | 427/18723 | 9.64e-08 | 5.25e-06 | 91 |
GO:000660510 | Cervix | CC | protein targeting | 68/2311 | 314/18723 | 2.17e-06 | 6.55e-05 | 68 |
GO:00325077 | Cervix | CC | maintenance of protein location in cell | 21/2311 | 65/18723 | 2.03e-05 | 3.71e-04 | 21 |
GO:004518510 | Cervix | CC | maintenance of protein location | 26/2311 | 94/18723 | 4.85e-05 | 7.34e-04 | 26 |
GO:002241110 | Cervix | CC | cellular component disassembly | 83/2311 | 443/18723 | 6.04e-05 | 8.68e-04 | 83 |
GO:00726655 | Cervix | CC | protein localization to vacuole | 20/2311 | 67/18723 | 1.12e-04 | 1.40e-03 | 20 |
GO:00108218 | Cervix | CC | regulation of mitochondrion organization | 34/2311 | 144/18723 | 1.27e-04 | 1.58e-03 | 34 |
GO:00162367 | Cervix | CC | macroautophagy | 58/2311 | 291/18723 | 1.40e-04 | 1.70e-03 | 58 |
GO:00105067 | Cervix | CC | regulation of autophagy | 61/2311 | 317/18723 | 2.61e-04 | 2.87e-03 | 61 |
GO:00004227 | Cervix | CC | autophagy of mitochondrion | 21/2311 | 81/18723 | 6.47e-04 | 6.02e-03 | 21 |
GO:00617267 | Cervix | CC | mitochondrion disassembly | 21/2311 | 81/18723 | 6.47e-04 | 6.02e-03 | 21 |
GO:00070347 | Cervix | CC | vacuolar transport | 34/2311 | 157/18723 | 7.03e-04 | 6.40e-03 | 34 |
GO:00066235 | Cervix | CC | protein targeting to vacuole | 12/2311 | 37/18723 | 1.15e-03 | 9.39e-03 | 12 |
GO:00108224 | Cervix | CC | positive regulation of mitochondrion organization | 19/2311 | 74/18723 | 1.30e-03 | 1.03e-02 | 19 |
GO:00726665 | Cervix | CC | establishment of protein localization to vacuole | 14/2311 | 49/18723 | 1.84e-03 | 1.37e-02 | 14 |
GO:19031466 | Cervix | CC | regulation of autophagy of mitochondrion | 10/2311 | 33/18723 | 5.07e-03 | 3.00e-02 | 10 |
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 |
VPS13D | SNV | Missense_Mutation | novel | c.2417N>T | p.Ala806Val | p.A806V | Q5THJ4 | protein_coding | tolerated(0.1) | benign(0.059) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
VPS13D | SNV | Missense_Mutation | novel | c.2181N>T | p.Lys727Asn | p.K727N | Q5THJ4 | protein_coding | tolerated(0.41) | benign(0.069) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
VPS13D | SNV | Missense_Mutation | | c.7535N>C | p.Leu2512Ser | p.L2512S | Q5THJ4 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
VPS13D | SNV | Missense_Mutation | | c.9896N>G | p.Asp3299Gly | p.D3299G | Q5THJ4 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
VPS13D | SNV | Missense_Mutation | | c.8863N>A | p.Ala2955Thr | p.A2955T | Q5THJ4 | protein_coding | tolerated(0.24) | benign(0.025) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
VPS13D | SNV | Missense_Mutation | rs753960297 | c.2837N>A | p.Arg946His | p.R946H | Q5THJ4 | protein_coding | deleterious(0.01) | benign(0.26) | TCGA-AX-A1C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
VPS13D | SNV | Missense_Mutation | rs779308595 | c.5234N>T | p.Ala1745Val | p.A1745V | Q5THJ4 | protein_coding | tolerated(0.07) | benign(0.005) | TCGA-AX-A1C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
VPS13D | SNV | Missense_Mutation | novel | c.1959G>T | p.Lys653Asn | p.K653N | Q5THJ4 | protein_coding | deleterious(0.05) | benign(0.421) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
VPS13D | SNV | Missense_Mutation | rs781171613 | c.2560G>A | p.Val854Ile | p.V854I | Q5THJ4 | protein_coding | tolerated(0.66) | benign(0.155) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
VPS13D | SNV | Missense_Mutation | novel | c.3670G>A | p.Asp1224Asn | p.D1224N | Q5THJ4 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |