Tissue | Expression Dynamics | Abbreviation |
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/APPL1_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/APPL1_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/APPL1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/APPL1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/APPL1_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/APPL1_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:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:003450418 | Esophagus | ESCC | protein localization to nucleus | 211/8552 | 290/18723 | 4.06e-21 | 6.60e-19 | 211 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:001703818 | Esophagus | ESCC | protein import | 149/8552 | 206/18723 | 5.90e-15 | 3.31e-13 | 149 |
GO:0072659110 | Esophagus | ESCC | protein localization to plasma membrane | 193/8552 | 284/18723 | 1.95e-14 | 1.03e-12 | 193 |
GO:199077819 | Esophagus | ESCC | protein localization to cell periphery | 217/8552 | 333/18723 | 4.08e-13 | 1.88e-11 | 217 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
GO:190199013 | Esophagus | ESCC | regulation of mitotic cell cycle phase transition | 191/8552 | 299/18723 | 1.35e-10 | 3.94e-09 | 191 |
GO:005117014 | Esophagus | ESCC | import into nucleus | 111/8552 | 159/18723 | 5.69e-10 | 1.44e-08 | 111 |
GO:000660613 | Esophagus | ESCC | protein import into nucleus | 108/8552 | 155/18723 | 1.16e-09 | 2.77e-08 | 108 |
GO:190547519 | Esophagus | ESCC | regulation of protein localization to membrane | 117/8552 | 175/18723 | 1.14e-08 | 2.26e-07 | 117 |
GO:003010018 | Esophagus | ESCC | regulation of endocytosis | 135/8552 | 211/18723 | 5.75e-08 | 1.02e-06 | 135 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:190437519 | Esophagus | ESCC | regulation of protein localization to cell periphery | 85/8552 | 125/18723 | 3.63e-07 | 5.06e-06 | 85 |
GO:000008214 | Esophagus | ESCC | G1/S transition of mitotic cell cycle | 134/8552 | 214/18723 | 4.04e-07 | 5.55e-06 | 134 |
GO:004484314 | Esophagus | ESCC | cell cycle G1/S phase transition | 148/8552 | 241/18723 | 5.68e-07 | 7.48e-06 | 148 |
GO:1903076110 | Esophagus | ESCC | regulation of protein localization to plasma membrane | 72/8552 | 104/18723 | 9.74e-07 | 1.23e-05 | 72 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0521020 | Esophagus | ESCC | Colorectal cancer | 69/4205 | 86/8465 | 4.06e-09 | 4.13e-08 | 2.11e-08 | 69 |
hsa0421114 | Esophagus | ESCC | Longevity regulating pathway | 58/4205 | 89/8465 | 2.19e-03 | 6.16e-03 | 3.16e-03 | 58 |
hsa05210110 | Esophagus | ESCC | Colorectal cancer | 69/4205 | 86/8465 | 4.06e-09 | 4.13e-08 | 2.11e-08 | 69 |
hsa0421115 | Esophagus | ESCC | Longevity regulating pathway | 58/4205 | 89/8465 | 2.19e-03 | 6.16e-03 | 3.16e-03 | 58 |
hsa052107 | Liver | Cirrhotic | Colorectal cancer | 39/2530 | 86/8465 | 1.67e-03 | 8.01e-03 | 4.94e-03 | 39 |
hsa042118 | Liver | Cirrhotic | Longevity regulating pathway | 37/2530 | 89/8465 | 1.22e-02 | 3.89e-02 | 2.40e-02 | 37 |
hsa0521012 | Liver | Cirrhotic | Colorectal cancer | 39/2530 | 86/8465 | 1.67e-03 | 8.01e-03 | 4.94e-03 | 39 |
hsa0421111 | Liver | Cirrhotic | Longevity regulating pathway | 37/2530 | 89/8465 | 1.22e-02 | 3.89e-02 | 2.40e-02 | 37 |
hsa0521022 | Liver | HCC | Colorectal cancer | 65/4020 | 86/8465 | 8.85e-08 | 1.23e-06 | 6.87e-07 | 65 |
hsa0421121 | Liver | HCC | Longevity regulating pathway | 61/4020 | 89/8465 | 4.46e-05 | 2.37e-04 | 1.32e-04 | 61 |
hsa0521032 | Liver | HCC | Colorectal cancer | 65/4020 | 86/8465 | 8.85e-08 | 1.23e-06 | 6.87e-07 | 65 |
hsa0421131 | Liver | HCC | Longevity regulating pathway | 61/4020 | 89/8465 | 4.46e-05 | 2.37e-04 | 1.32e-04 | 61 |
hsa0521018 | Oral cavity | OSCC | Colorectal cancer | 66/3704 | 86/8465 | 3.99e-10 | 4.95e-09 | 2.52e-09 | 66 |
hsa0421110 | Oral cavity | OSCC | Longevity regulating pathway | 54/3704 | 89/8465 | 9.24e-04 | 2.65e-03 | 1.35e-03 | 54 |
hsa0521019 | Oral cavity | OSCC | Colorectal cancer | 66/3704 | 86/8465 | 3.99e-10 | 4.95e-09 | 2.52e-09 | 66 |
hsa0421113 | Oral cavity | OSCC | Longevity regulating pathway | 54/3704 | 89/8465 | 9.24e-04 | 2.65e-03 | 1.35e-03 | 54 |
hsa0521016 | Prostate | BPH | Colorectal cancer | 36/1718 | 86/8465 | 3.94e-06 | 3.25e-05 | 2.01e-05 | 36 |
hsa042119 | Prostate | BPH | Longevity regulating pathway | 27/1718 | 89/8465 | 1.57e-02 | 4.42e-02 | 2.73e-02 | 27 |
hsa0521017 | Prostate | BPH | Colorectal cancer | 36/1718 | 86/8465 | 3.94e-06 | 3.25e-05 | 2.01e-05 | 36 |
hsa0421112 | Prostate | BPH | Longevity regulating pathway | 27/1718 | 89/8465 | 1.57e-02 | 4.42e-02 | 2.73e-02 | 27 |
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 |
APPL1 | SNV | Missense_Mutation | novel | c.1501N>A | p.Leu501Ile | p.L501I | Q9UKG1 | protein_coding | tolerated(0.13) | benign(0.184) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
APPL1 | SNV | Missense_Mutation | novel | c.375N>C | p.Glu125Asp | p.E125D | Q9UKG1 | protein_coding | deleterious(0.01) | possibly_damaging(0.524) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
APPL1 | SNV | Missense_Mutation | rs749260036 | c.737N>A | p.Thr246Asn | p.T246N | Q9UKG1 | protein_coding | tolerated(0.19) | benign(0) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
APPL1 | SNV | Missense_Mutation | novel | c.576G>T | p.Lys192Asn | p.K192N | Q9UKG1 | protein_coding | deleterious(0.02) | benign(0.302) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APPL1 | SNV | Missense_Mutation | novel | c.1222C>T | p.His408Tyr | p.H408Y | Q9UKG1 | protein_coding | tolerated(0.21) | possibly_damaging(0.885) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APPL1 | SNV | Missense_Mutation | novel | c.1502N>C | p.Leu501Ser | p.L501S | Q9UKG1 | protein_coding | tolerated(0.21) | possibly_damaging(0.672) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APPL1 | SNV | Missense_Mutation | novel | c.534N>A | p.Met178Ile | p.M178I | Q9UKG1 | protein_coding | deleterious(0.01) | benign(0.037) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APPL1 | SNV | Missense_Mutation | novel | c.625N>C | p.Ser209Arg | p.S209R | Q9UKG1 | protein_coding | deleterious(0.02) | benign(0.385) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
APPL1 | SNV | Missense_Mutation | rs748607720 | c.824N>A | p.Arg275Gln | p.R275Q | Q9UKG1 | protein_coding | deleterious(0.02) | probably_damaging(0.917) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
APPL1 | SNV | Missense_Mutation | novel | c.1115N>C | p.Asn372Thr | p.N372T | Q9UKG1 | protein_coding | deleterious(0) | probably_damaging(0.952) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |