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Gene: NDUFA2 |
Gene summary for NDUFA2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NDUFA2 | Gene ID | 4695 |
| Gene name | NADH:ubiquinone oxidoreductase subunit A2 | |
| Gene Alias | B8 | |
| Cytomap | 5q31.3 | |
| Gene Type | protein-coding | GO ID | GO:0001701 | UniProtAcc | O43678 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 4695 | NDUFA2 | GSM4909285 | Human | Breast | IDC | 1.81e-02 | -1.49e-01 | 0.21 |
| 4695 | NDUFA2 | GSM4909291 | Human | Breast | IDC | 3.73e-09 | 4.34e-01 | 0.1753 |
| 4695 | NDUFA2 | GSM4909293 | Human | Breast | IDC | 3.91e-02 | 2.71e-01 | 0.1581 |
| 4695 | NDUFA2 | GSM4909294 | Human | Breast | IDC | 8.76e-10 | 2.70e-01 | 0.2022 |
| 4695 | NDUFA2 | GSM4909296 | Human | Breast | IDC | 7.01e-14 | 1.64e-01 | 0.1524 |
| 4695 | NDUFA2 | GSM4909297 | Human | Breast | IDC | 2.43e-22 | -4.79e-02 | 0.1517 |
| 4695 | NDUFA2 | GSM4909298 | Human | Breast | IDC | 2.61e-22 | 5.90e-01 | 0.1551 |
| 4695 | NDUFA2 | GSM4909301 | Human | Breast | IDC | 6.91e-29 | 6.13e-01 | 0.1577 |
| 4695 | NDUFA2 | GSM4909302 | Human | Breast | IDC | 1.67e-03 | 1.90e-01 | 0.1545 |
| 4695 | NDUFA2 | GSM4909307 | Human | Breast | IDC | 1.16e-06 | 3.60e-01 | 0.1569 |
| 4695 | NDUFA2 | GSM4909308 | Human | Breast | IDC | 2.35e-14 | 4.38e-01 | 0.158 |
| 4695 | NDUFA2 | GSM4909309 | Human | Breast | IDC | 7.92e-09 | 1.92e-01 | 0.0483 |
| 4695 | NDUFA2 | GSM4909311 | Human | Breast | IDC | 1.49e-35 | -1.14e-02 | 0.1534 |
| 4695 | NDUFA2 | GSM4909312 | Human | Breast | IDC | 9.97e-14 | 3.92e-02 | 0.1552 |
| 4695 | NDUFA2 | GSM4909313 | Human | Breast | IDC | 5.98e-05 | 3.86e-02 | 0.0391 |
| 4695 | NDUFA2 | GSM4909316 | Human | Breast | IDC | 1.45e-06 | 1.97e-01 | 0.21 |
| 4695 | NDUFA2 | GSM4909318 | Human | Breast | IDC | 1.37e-04 | 2.41e-01 | 0.2031 |
| 4695 | NDUFA2 | GSM4909319 | Human | Breast | IDC | 4.16e-55 | -1.80e-02 | 0.1563 |
| 4695 | NDUFA2 | GSM4909320 | Human | Breast | IDC | 9.61e-12 | 2.13e-01 | 0.1575 |
| 4695 | NDUFA2 | GSM4909321 | Human | Breast | IDC | 1.13e-25 | 3.71e-01 | 0.1559 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:004603414 | Breast | IDC | ATP metabolic process | 85/1434 | 277/18723 | 6.42e-30 | 1.82e-26 | 85 |
| GO:000611913 | Breast | IDC | oxidative phosphorylation | 56/1434 | 141/18723 | 1.87e-26 | 3.53e-23 | 56 |
| GO:000906013 | Breast | IDC | aerobic respiration | 61/1434 | 189/18723 | 4.42e-23 | 6.27e-20 | 61 |
| GO:000609113 | Breast | IDC | generation of precursor metabolites and energy | 103/1434 | 490/18723 | 1.53e-21 | 1.74e-18 | 103 |
| GO:004533313 | Breast | IDC | cellular respiration | 62/1434 | 230/18723 | 5.98e-19 | 4.25e-16 | 62 |
| GO:004277313 | Breast | IDC | ATP synthesis coupled electron transport | 38/1434 | 95/18723 | 1.65e-18 | 9.36e-16 | 38 |
| GO:004277513 | Breast | IDC | mitochondrial ATP synthesis coupled electron transport | 38/1434 | 95/18723 | 1.65e-18 | 9.36e-16 | 38 |
| GO:001964613 | Breast | IDC | aerobic electron transport chain | 36/1434 | 87/18723 | 3.48e-18 | 1.80e-15 | 36 |
| GO:001598013 | Breast | IDC | energy derivation by oxidation of organic compounds | 73/1434 | 318/18723 | 8.70e-18 | 3.80e-15 | 73 |
| GO:002290013 | Breast | IDC | electron transport chain | 51/1434 | 175/18723 | 2.23e-17 | 8.43e-15 | 51 |
| GO:002290413 | Breast | IDC | respiratory electron transport chain | 38/1434 | 114/18723 | 2.08e-15 | 6.94e-13 | 38 |
| GO:000612013 | Breast | IDC | mitochondrial electron transport, NADH to ubiquinone | 21/1434 | 51/18723 | 3.92e-11 | 6.02e-09 | 21 |
| GO:001025713 | Breast | IDC | NADH dehydrogenase complex assembly | 22/1434 | 57/18723 | 6.20e-11 | 8.80e-09 | 22 |
| GO:003298113 | Breast | IDC | mitochondrial respiratory chain complex I assembly | 22/1434 | 57/18723 | 6.20e-11 | 8.80e-09 | 22 |
| GO:003310813 | Breast | IDC | mitochondrial respiratory chain complex assembly | 28/1434 | 93/18723 | 1.54e-10 | 1.83e-08 | 28 |
| GO:000170113 | Breast | IDC | in utero embryonic development | 42/1434 | 367/18723 | 5.85e-03 | 4.24e-02 | 42 |
| GO:004603424 | Breast | DCIS | ATP metabolic process | 85/1390 | 277/18723 | 6.79e-31 | 1.92e-27 | 85 |
| GO:000611923 | Breast | DCIS | oxidative phosphorylation | 56/1390 | 141/18723 | 3.89e-27 | 7.34e-24 | 56 |
| GO:000906023 | Breast | DCIS | aerobic respiration | 61/1390 | 189/18723 | 8.72e-24 | 1.23e-20 | 61 |
| GO:000609123 | Breast | DCIS | generation of precursor metabolites and energy | 103/1390 | 490/18723 | 1.46e-22 | 1.65e-19 | 103 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0541527 | Prostate | BPH | Diabetic cardiomyopathy | 102/1718 | 203/8465 | 6.06e-22 | 2.00e-20 | 1.24e-20 | 102 |
| hsa0501426 | Prostate | BPH | Amyotrophic lateral sclerosis | 151/1718 | 364/8465 | 3.37e-21 | 1.01e-19 | 6.25e-20 | 151 |
| hsa0471428 | Prostate | BPH | Thermogenesis | 110/1718 | 232/8465 | 5.16e-21 | 1.42e-19 | 8.78e-20 | 110 |
| hsa0493226 | Prostate | BPH | Non-alcoholic fatty liver disease | 83/1718 | 155/8465 | 2.49e-20 | 6.32e-19 | 3.91e-19 | 83 |
| hsa0502226 | Prostate | BPH | Pathways of neurodegeneration - multiple diseases | 180/1718 | 476/8465 | 7.70e-20 | 1.81e-18 | 1.12e-18 | 180 |
| hsa0472325 | Prostate | BPH | Retrograde endocannabinoid signaling | 51/1718 | 148/8465 | 3.59e-05 | 2.57e-04 | 1.59e-04 | 51 |
| hsa05012112 | Prostate | BPH | Parkinson disease | 143/1718 | 266/8465 | 1.19e-34 | 3.94e-32 | 2.44e-32 | 143 |
| hsa05020111 | Prostate | BPH | Prion disease | 141/1718 | 273/8465 | 1.11e-31 | 1.23e-29 | 7.58e-30 | 141 |
| hsa05016111 | Prostate | BPH | Huntington disease | 149/1718 | 306/8465 | 8.82e-30 | 7.27e-28 | 4.50e-28 | 149 |
| hsa00190111 | Prostate | BPH | Oxidative phosphorylation | 83/1718 | 134/8465 | 3.75e-26 | 2.48e-24 | 1.53e-24 | 83 |
| hsa05208113 | Prostate | BPH | Chemical carcinogenesis - reactive oxygen species | 114/1718 | 223/8465 | 3.05e-25 | 1.44e-23 | 8.91e-24 | 114 |
| hsa05010111 | Prostate | BPH | Alzheimer disease | 165/1718 | 384/8465 | 4.03e-25 | 1.66e-23 | 1.03e-23 | 165 |
| hsa05415112 | Prostate | BPH | Diabetic cardiomyopathy | 102/1718 | 203/8465 | 6.06e-22 | 2.00e-20 | 1.24e-20 | 102 |
| hsa05014111 | Prostate | BPH | Amyotrophic lateral sclerosis | 151/1718 | 364/8465 | 3.37e-21 | 1.01e-19 | 6.25e-20 | 151 |
| hsa04714112 | Prostate | BPH | Thermogenesis | 110/1718 | 232/8465 | 5.16e-21 | 1.42e-19 | 8.78e-20 | 110 |
| hsa04932111 | Prostate | BPH | Non-alcoholic fatty liver disease | 83/1718 | 155/8465 | 2.49e-20 | 6.32e-19 | 3.91e-19 | 83 |
| hsa05022111 | Prostate | BPH | Pathways of neurodegeneration - multiple diseases | 180/1718 | 476/8465 | 7.70e-20 | 1.81e-18 | 1.12e-18 | 180 |
| hsa04723111 | Prostate | BPH | Retrograde endocannabinoid signaling | 51/1718 | 148/8465 | 3.59e-05 | 2.57e-04 | 1.59e-04 | 51 |
| hsa0501229 | Prostate | Tumor | Parkinson disease | 144/1791 | 266/8465 | 3.33e-33 | 1.10e-30 | 6.83e-31 | 144 |
| hsa0502027 | Prostate | Tumor | Prion disease | 142/1791 | 273/8465 | 2.80e-30 | 3.09e-28 | 1.92e-28 | 142 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| NDUFA2 | SNV | Missense_Mutation | c.224N>G | p.Thr75Arg | p.T75R | O43678 | protein_coding | tolerated(0.2) | benign(0) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD | |
| NDUFA2 | SNV | Missense_Mutation | c.8N>T | p.Ala3Val | p.A3V | O43678 | protein_coding | deleterious(0.05) | benign(0.007) | TCGA-BG-A0VZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR | |
| NDUFA2 | SNV | Missense_Mutation | c.266N>C | p.Arg89Thr | p.R89T | O43678 | protein_coding | tolerated(0.13) | benign(0) | TCGA-BS-A0TJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| NDUFA2 | SNV | Missense_Mutation | rs370015250 | c.10N>A | p.Ala4Thr | p.A4T | O43678 | protein_coding | deleterious(0.02) | benign(0.003) | TCGA-XR-A8TF-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| NDUFA2 | SNV | Missense_Mutation | novel | c.145N>T | p.Pro49Ser | p.P49S | O43678 | protein_coding | deleterious(0.01) | probably_damaging(0.943) | TCGA-85-8276-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
| NDUFA2 | SNV | Missense_Mutation | c.148N>A | p.Asp50Asn | p.D50N | O43678 | protein_coding | tolerated(0.41) | benign(0.001) | TCGA-CN-4723-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 4695 | NDUFA2 | ENZYME | inhibitor | CHEMBL3545135 | NV-128 | |
| 4695 | NDUFA2 | ENZYME | inhibitor | CHEMBL3545320 | ME-344 | |
| 4695 | NDUFA2 | ENZYME | inhibitor | CHEMBL1703 | METFORMIN HYDROCHLORIDE |
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