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Gene: APOE |
Gene summary for APOE |
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Gene information | Species | Human | Gene symbol | APOE | Gene ID | 348 |
Gene name | apolipoprotein E | |
Gene Alias | AD2 | |
Cytomap | 19q13.32 | |
Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | A0A0S2Z3D5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
348 | APOE | GSM4909281 | Human | Breast | IDC | 8.80e-42 | 9.22e-01 | 0.21 |
348 | APOE | GSM4909285 | Human | Breast | IDC | 1.34e-08 | 3.05e-01 | 0.21 |
348 | APOE | GSM4909293 | Human | Breast | IDC | 3.22e-08 | -2.39e-01 | 0.1581 |
348 | APOE | GSM4909295 | Human | Breast | IDC | 3.40e-02 | 3.39e-01 | 0.0898 |
348 | APOE | GSM4909296 | Human | Breast | IDC | 2.47e-04 | -2.22e-01 | 0.1524 |
348 | APOE | GSM4909297 | Human | Breast | IDC | 5.55e-07 | -2.39e-01 | 0.1517 |
348 | APOE | GSM4909299 | Human | Breast | IDC | 1.11e-08 | 5.00e-01 | 0.035 |
348 | APOE | GSM4909302 | Human | Breast | IDC | 1.27e-04 | 3.13e-01 | 0.1545 |
348 | APOE | GSM4909309 | Human | Breast | IDC | 7.67e-06 | 3.72e-01 | 0.0483 |
348 | APOE | GSM4909311 | Human | Breast | IDC | 2.02e-07 | -2.01e-01 | 0.1534 |
348 | APOE | GSM4909312 | Human | Breast | IDC | 7.71e-11 | -2.65e-01 | 0.1552 |
348 | APOE | GSM4909315 | Human | Breast | IDC | 5.71e-08 | -2.59e-01 | 0.21 |
348 | APOE | GSM4909319 | Human | Breast | IDC | 5.14e-08 | 3.05e-02 | 0.1563 |
348 | APOE | GSM4909321 | Human | Breast | IDC | 2.05e-08 | -2.64e-01 | 0.1559 |
348 | APOE | NCCBC14 | Human | Breast | DCIS | 1.43e-24 | 1.00e+00 | 0.2021 |
348 | APOE | NCCBC2 | Human | Breast | DCIS | 2.85e-05 | 6.98e-01 | 0.1554 |
348 | APOE | NCCBC3 | Human | Breast | DCIS | 2.21e-44 | 1.08e+00 | 0.1198 |
348 | APOE | NCCBC5 | Human | Breast | DCIS | 1.30e-09 | 5.49e-01 | 0.2046 |
348 | APOE | P1 | Human | Breast | IDC | 1.21e-03 | 2.27e-01 | 0.1527 |
348 | APOE | DCIS2 | Human | Breast | DCIS | 1.29e-08 | -4.91e-02 | 0.0085 |
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∗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. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007190011 | Liver | Cirrhotic | regulation of protein serine/threonine kinase activity | 110/4634 | 359/18723 | 6.19e-03 | 3.08e-02 | 110 |
GO:00028311 | Liver | Cirrhotic | regulation of response to biotic stimulus | 101/4634 | 327/18723 | 6.58e-03 | 3.25e-02 | 101 |
GO:00901327 | Liver | Cirrhotic | epithelium migration | 110/4634 | 360/18723 | 6.79e-03 | 3.35e-02 | 110 |
GO:003502311 | Liver | Cirrhotic | regulation of Rho protein signal transduction | 32/4634 | 86/18723 | 6.81e-03 | 3.35e-02 | 32 |
GO:00343751 | Liver | Cirrhotic | high-density lipoprotein particle remodeling | 9/4634 | 16/18723 | 6.94e-03 | 3.38e-02 | 9 |
GO:2000644 | Liver | Cirrhotic | regulation of receptor catabolic process | 7/4634 | 11/18723 | 7.11e-03 | 3.41e-02 | 7 |
GO:00550901 | Liver | Cirrhotic | acylglycerol homeostasis | 18/4634 | 42/18723 | 7.64e-03 | 3.61e-02 | 18 |
GO:00703281 | Liver | Cirrhotic | triglyceride homeostasis | 18/4634 | 42/18723 | 7.64e-03 | 3.61e-02 | 18 |
GO:00901307 | Liver | Cirrhotic | tissue migration | 111/4634 | 365/18723 | 7.66e-03 | 3.61e-02 | 111 |
GO:19059541 | Liver | Cirrhotic | positive regulation of lipid localization | 39/4634 | 110/18723 | 7.76e-03 | 3.65e-02 | 39 |
GO:00323701 | Liver | Cirrhotic | positive regulation of lipid transport | 31/4634 | 84/18723 | 8.75e-03 | 4.04e-02 | 31 |
GO:19030351 | Liver | Cirrhotic | negative regulation of response to wounding | 34/4634 | 94/18723 | 8.84e-03 | 4.08e-02 | 34 |
GO:00064697 | Liver | Cirrhotic | negative regulation of protein kinase activity | 68/4634 | 212/18723 | 9.35e-03 | 4.29e-02 | 68 |
GO:0010872 | Liver | Cirrhotic | regulation of cholesterol esterification | 8/4634 | 14/18723 | 9.65e-03 | 4.35e-02 | 8 |
GO:20011401 | Liver | Cirrhotic | positive regulation of phospholipid transport | 8/4634 | 14/18723 | 9.65e-03 | 4.35e-02 | 8 |
GO:00650051 | Liver | Cirrhotic | protein-lipid complex assembly | 14/4634 | 31/18723 | 1.05e-02 | 4.65e-02 | 14 |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
GO:000989622 | Liver | HCC | positive regulation of catabolic process | 335/7958 | 492/18723 | 3.83e-31 | 1.87e-28 | 335 |
GO:003133122 | Liver | HCC | positive regulation of cellular catabolic process | 295/7958 | 427/18723 | 3.20e-29 | 1.45e-26 | 295 |
GO:001603222 | Liver | HCC | viral process | 286/7958 | 415/18723 | 4.41e-28 | 1.86e-25 | 286 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501043 | Breast | DCIS | Alzheimer disease | 105/846 | 384/8465 | 3.23e-23 | 1.49e-21 | 1.10e-21 | 105 |
hsa0501053 | Breast | DCIS | Alzheimer disease | 105/846 | 384/8465 | 3.23e-23 | 1.49e-21 | 1.10e-21 | 105 |
hsa0501020 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa05010110 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa0501025 | Endometrium | EEC | Alzheimer disease | 126/1237 | 384/8465 | 2.25e-20 | 7.40e-19 | 5.52e-19 | 126 |
hsa0501035 | Endometrium | EEC | Alzheimer disease | 126/1237 | 384/8465 | 2.25e-20 | 7.40e-19 | 5.52e-19 | 126 |
hsa05010210 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0501038 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa049796 | Liver | NAFLD | Cholesterol metabolism | 20/1043 | 51/8465 | 9.73e-07 | 4.56e-05 | 3.67e-05 | 20 |
hsa0497911 | Liver | NAFLD | Cholesterol metabolism | 20/1043 | 51/8465 | 9.73e-07 | 4.56e-05 | 3.67e-05 | 20 |
hsa049792 | Liver | Cirrhotic | Cholesterol metabolism | 30/2530 | 51/8465 | 1.59e-05 | 1.39e-04 | 8.60e-05 | 30 |
hsa049793 | Liver | Cirrhotic | Cholesterol metabolism | 30/2530 | 51/8465 | 1.59e-05 | 1.39e-04 | 8.60e-05 | 30 |
hsa049794 | Liver | HCC | Cholesterol metabolism | 41/4020 | 51/8465 | 1.33e-06 | 1.35e-05 | 7.49e-06 | 41 |
hsa049795 | Liver | HCC | Cholesterol metabolism | 41/4020 | 51/8465 | 1.33e-06 | 1.35e-05 | 7.49e-06 | 41 |
hsa0501028 | Oral cavity | OSCC | Alzheimer disease | 244/3704 | 384/8465 | 1.18e-15 | 3.60e-14 | 1.83e-14 | 244 |
hsa05010112 | Oral cavity | OSCC | Alzheimer disease | 244/3704 | 384/8465 | 1.18e-15 | 3.60e-14 | 1.83e-14 | 244 |
hsa0501029 | Oral cavity | LP | Alzheimer disease | 197/2418 | 384/8465 | 6.66e-22 | 3.69e-20 | 2.38e-20 | 197 |
hsa0501037 | Oral cavity | LP | Alzheimer disease | 197/2418 | 384/8465 | 6.66e-22 | 3.69e-20 | 2.38e-20 | 197 |
hsa0501045 | Oral cavity | EOLP | Alzheimer disease | 87/1218 | 384/8465 | 5.79e-06 | 3.67e-05 | 2.16e-05 | 87 |
hsa0501055 | Oral cavity | EOLP | Alzheimer disease | 87/1218 | 384/8465 | 5.79e-06 | 3.67e-05 | 2.16e-05 | 87 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 |
APOE | SNV | Missense_Mutation | rs372938213 | c.350C>T | p.Ala117Val | p.A117V | P02649 | protein_coding | deleterious(0.03) | possibly_damaging(0.592) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
APOE | SNV | Missense_Mutation | novel | c.685N>C | p.Gly229Arg | p.G229R | P02649 | protein_coding | tolerated(0.24) | benign(0.11) | TCGA-5M-AAT4-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
APOE | SNV | Missense_Mutation | c.128N>T | p.Arg43Leu | p.R43L | P02649 | protein_coding | deleterious(0) | benign(0.006) | TCGA-AA-A02Y-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
APOE | SNV | Missense_Mutation | c.371N>T | p.Ala124Val | p.A124V | P02649 | protein_coding | deleterious(0.01) | possibly_damaging(0.524) | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
APOE | SNV | Missense_Mutation | c.239C>T | p.Ala80Val | p.A80V | P02649 | protein_coding | tolerated(0.33) | benign(0) | TCGA-G4-6627-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
APOE | SNV | Missense_Mutation | novel | c.353N>T | p.Ala118Val | p.A118V | P02649 | protein_coding | tolerated(0.17) | possibly_damaging(0.842) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APOE | SNV | Missense_Mutation | novel | c.53N>A | p.Ala18Asp | p.A18D | P02649 | protein_coding | deleterious(0) | possibly_damaging(0.453) | TCGA-QS-A8F1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
APOE | SNV | Missense_Mutation | rs752790054 | c.167N>A | p.Arg56His | p.R56H | P02649 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-4R-AA8I-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
APOE | SNV | Missense_Mutation | rs762461580 | c.149G>A | p.Arg50His | p.R50H | P02649 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
APOE | SNV | Missense_Mutation | novel | c.270G>T | p.Lys90Asn | p.K90N | P02649 | protein_coding | tolerated(0.39) | benign(0.09) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
348 | APOE | DRUGGABLE GENOME | PREDNISONE | PREDNISONE | 3185288 | |
348 | APOE | DRUGGABLE GENOME | BUTHIONINE SULFOXIMINE | 12615656 | ||
348 | APOE | DRUGGABLE GENOME | LORAZEPAM | LORAZEPAM | 15699298 | |
348 | APOE | DRUGGABLE GENOME | hmg coa reductase inhibitors | |||
348 | APOE | DRUGGABLE GENOME | fenofibrate | FENOFIBRATE | 12042669 | |
348 | APOE | DRUGGABLE GENOME | VITAMIN E | 12076219 | ||
348 | APOE | DRUGGABLE GENOME | ritonavir | RITONAVIR | 17700364,15809899 | |
348 | APOE | DRUGGABLE GENOME | TRIAMCINOLONE | TRIAMCINOLONE | 9150415 | |
348 | APOE | DRUGGABLE GENOME | ACE INHIBITOR | 12105166,15585195 | ||
348 | APOE | DRUGGABLE GENOME | CORTICOSTEROIDS | 1903065 |
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