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Gene: NDUFA1 |
Gene summary for NDUFA1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NDUFA1 | Gene ID | 4694 |
| Gene name | NADH:ubiquinone oxidoreductase subunit A1 | |
| Gene Alias | CI-MWFE | |
| Cytomap | Xq24 | |
| Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | O15239 |
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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 |
| 4694 | NDUFA1 | CA_HPV_1 | Human | Cervix | CC | 7.22e-07 | 1.40e-02 | 0.0264 |
| 4694 | NDUFA1 | CA_HPV_3 | Human | Cervix | CC | 1.67e-05 | -1.04e-01 | 0.0414 |
| 4694 | NDUFA1 | N_HPV_2 | Human | Cervix | N_HPV | 4.74e-02 | 1.43e-01 | -0.0131 |
| 4694 | NDUFA1 | CCI_1 | Human | Cervix | CC | 9.77e-16 | -9.33e-01 | 0.528 |
| 4694 | NDUFA1 | CCI_2 | Human | Cervix | CC | 1.25e-08 | -6.09e-01 | 0.5249 |
| 4694 | NDUFA1 | CCI_3 | Human | Cervix | CC | 7.17e-23 | -9.66e-01 | 0.516 |
| 4694 | NDUFA1 | CCII_1 | Human | Cervix | CC | 3.67e-38 | -1.01e+00 | 0.3249 |
| 4694 | NDUFA1 | Tumor | Human | Cervix | CC | 2.41e-03 | 2.80e-01 | 0.1241 |
| 4694 | NDUFA1 | H2 | Human | Cervix | HSIL_HPV | 8.24e-03 | -3.03e-01 | 0.0632 |
| 4694 | NDUFA1 | L1 | Human | Cervix | CC | 8.47e-08 | -2.32e-01 | 0.0802 |
| 4694 | NDUFA1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.76e-46 | 9.65e-01 | 0.0155 |
| 4694 | NDUFA1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.12e-56 | 1.82e+00 | -0.1808 |
| 4694 | NDUFA1 | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.82e-11 | 9.62e-01 | 0.0216 |
| 4694 | NDUFA1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 8.39e-50 | 1.72e+00 | -0.0811 |
| 4694 | NDUFA1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.99e-10 | 5.94e-01 | -0.1088 |
| 4694 | NDUFA1 | HTA11_347_2000001011 | Human | Colorectum | AD | 7.77e-81 | 1.78e+00 | -0.1954 |
| 4694 | NDUFA1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.02e-24 | 1.98e+00 | -0.2602 |
| 4694 | NDUFA1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 8.53e-24 | 2.02e+00 | -0.2196 |
| 4694 | NDUFA1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 8.14e-42 | 1.42e+00 | -0.1207 |
| 4694 | NDUFA1 | HTA11_83_2000001011 | Human | Colorectum | SER | 5.14e-41 | 1.77e+00 | -0.1526 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
| GO:00971939 | Breast | Precancer | intrinsic apoptotic signaling pathway | 59/1080 | 288/18723 | 8.07e-18 | 3.60e-15 | 59 |
| GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
| GO:20012429 | Breast | Precancer | regulation of intrinsic apoptotic signaling pathway | 41/1080 | 164/18723 | 6.48e-16 | 2.31e-13 | 41 |
| GO:00229008 | Breast | Precancer | electron transport chain | 42/1080 | 175/18723 | 1.37e-15 | 4.59e-13 | 42 |
| GO:00525479 | Breast | Precancer | regulation of peptidase activity | 71/1080 | 461/18723 | 2.72e-14 | 6.94e-12 | 71 |
| GO:00525489 | Breast | Precancer | regulation of endopeptidase activity | 67/1080 | 432/18723 | 1.06e-13 | 2.36e-11 | 67 |
| GO:20001169 | Breast | Precancer | regulation of cysteine-type endopeptidase activity | 43/1080 | 235/18723 | 1.30e-11 | 1.83e-09 | 43 |
| GO:00068398 | Breast | Precancer | mitochondrial transport | 45/1080 | 254/18723 | 1.37e-11 | 1.88e-09 | 45 |
| GO:00432819 | Breast | Precancer | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 40/1080 | 209/18723 | 1.59e-11 | 2.07e-09 | 40 |
| GO:00102578 | Breast | Precancer | NADH dehydrogenase complex assembly | 19/1080 | 57/18723 | 1.93e-10 | 1.92e-08 | 19 |
| GO:00329818 | Breast | Precancer | mitochondrial respiratory chain complex I assembly | 19/1080 | 57/18723 | 1.93e-10 | 1.92e-08 | 19 |
| GO:00331088 | Breast | Precancer | mitochondrial respiratory chain complex assembly | 24/1080 | 93/18723 | 3.39e-10 | 3.16e-08 | 24 |
| GO:20012349 | Breast | Precancer | negative regulation of apoptotic signaling pathway | 39/1080 | 224/18723 | 5.35e-10 | 4.77e-08 | 39 |
| GO:20012439 | Breast | Precancer | negative regulation of intrinsic apoptotic signaling pathway | 23/1080 | 98/18723 | 5.82e-09 | 4.45e-07 | 23 |
| GO:00458629 | Breast | Precancer | positive regulation of proteolysis | 51/1080 | 372/18723 | 7.77e-09 | 5.70e-07 | 51 |
| GO:00109529 | Breast | Precancer | positive regulation of peptidase activity | 33/1080 | 197/18723 | 3.01e-08 | 1.89e-06 | 33 |
| GO:00432808 | Breast | Precancer | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 24/1080 | 129/18723 | 3.13e-07 | 1.50e-05 | 24 |
| GO:00109509 | Breast | Precancer | positive regulation of endopeptidase activity | 29/1080 | 179/18723 | 4.23e-07 | 1.90e-05 | 29 |
| GO:20010568 | Breast | Precancer | positive regulation of cysteine-type endopeptidase activity | 25/1080 | 148/18723 | 1.19e-06 | 4.60e-05 | 25 |
| 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 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0520820 | Cervix | CC | Chemical carcinogenesis - reactive oxygen species | 92/1267 | 223/8465 | 4.71e-22 | 5.09e-20 | 3.01e-20 | 92 |
| hsa0501220 | Cervix | CC | Parkinson disease | 102/1267 | 266/8465 | 1.81e-21 | 1.47e-19 | 8.66e-20 | 102 |
| hsa0019018 | Cervix | CC | Oxidative phosphorylation | 64/1267 | 134/8465 | 1.25e-19 | 8.07e-18 | 4.77e-18 | 64 |
| hsa0502018 | Cervix | CC | Prion disease | 98/1267 | 273/8465 | 2.64e-18 | 1.42e-16 | 8.42e-17 | 98 |
| hsa0541520 | Cervix | CC | Diabetic cardiomyopathy | 76/1267 | 203/8465 | 1.40e-15 | 6.46e-14 | 3.82e-14 | 76 |
| hsa0501018 | Cervix | CC | Alzheimer disease | 113/1267 | 384/8465 | 9.67e-14 | 3.92e-12 | 2.32e-12 | 113 |
| hsa0501618 | Cervix | CC | Huntington disease | 94/1267 | 306/8465 | 8.49e-13 | 3.06e-11 | 1.81e-11 | 94 |
| hsa0502218 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
| hsa0493218 | Cervix | CC | Non-alcoholic fatty liver disease | 58/1267 | 155/8465 | 3.58e-12 | 1.05e-10 | 6.23e-11 | 58 |
| hsa0471420 | Cervix | CC | Thermogenesis | 76/1267 | 232/8465 | 4.29e-12 | 1.16e-10 | 6.85e-11 | 76 |
| hsa0501418 | Cervix | CC | Amyotrophic lateral sclerosis | 103/1267 | 364/8465 | 1.79e-11 | 4.47e-10 | 2.64e-10 | 103 |
| hsa0472318 | Cervix | CC | Retrograde endocannabinoid signaling | 42/1267 | 148/8465 | 1.79e-05 | 1.42e-04 | 8.40e-05 | 42 |
| hsa05208110 | Cervix | CC | Chemical carcinogenesis - reactive oxygen species | 92/1267 | 223/8465 | 4.71e-22 | 5.09e-20 | 3.01e-20 | 92 |
| hsa05012110 | Cervix | CC | Parkinson disease | 102/1267 | 266/8465 | 1.81e-21 | 1.47e-19 | 8.66e-20 | 102 |
| hsa0019019 | Cervix | CC | Oxidative phosphorylation | 64/1267 | 134/8465 | 1.25e-19 | 8.07e-18 | 4.77e-18 | 64 |
| hsa0502019 | Cervix | CC | Prion disease | 98/1267 | 273/8465 | 2.64e-18 | 1.42e-16 | 8.42e-17 | 98 |
| hsa05415110 | Cervix | CC | Diabetic cardiomyopathy | 76/1267 | 203/8465 | 1.40e-15 | 6.46e-14 | 3.82e-14 | 76 |
| hsa0501019 | Cervix | CC | Alzheimer disease | 113/1267 | 384/8465 | 9.67e-14 | 3.92e-12 | 2.32e-12 | 113 |
| hsa0501619 | Cervix | CC | Huntington disease | 94/1267 | 306/8465 | 8.49e-13 | 3.06e-11 | 1.81e-11 | 94 |
| hsa0502219 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
| 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 |
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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 |
| NDUFA1 | SNV | Missense_Mutation | novel | c.115N>A | p.Ala39Thr | p.A39T | O15239 | protein_coding | deleterious(0.05) | probably_damaging(0.998) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
| NDUFA1 | SNV | Missense_Mutation | c.22G>A | p.Gly8Arg | p.G8R | O15239 | protein_coding | tolerated(0.06) | probably_damaging(1) | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| NDUFA1 | SNV | Missense_Mutation | c.130N>A | p.His44Asn | p.H44N | O15239 | protein_coding | deleterious(0.02) | benign(0.009) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
| NDUFA1 | SNV | Missense_Mutation | rs780641472 | c.175N>T | p.Arg59Cys | p.R59C | O15239 | protein_coding | tolerated(0.21) | benign(0.005) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
| NDUFA1 | SNV | Missense_Mutation | novel | c.85N>C | p.Phe29Leu | p.F29L | O15239 | protein_coding | tolerated(0.21) | benign(0.164) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| NDUFA1 | SNV | Missense_Mutation | rs746256856 | c.176N>A | p.Arg59His | p.R59H | O15239 | protein_coding | tolerated(0.42) | benign(0.005) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
| NDUFA1 | SNV | Missense_Mutation | c.112G>A | p.Val38Ile | p.V38I | O15239 | protein_coding | tolerated(0.65) | benign(0) | TCGA-D1-A101-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| NDUFA1 | SNV | Missense_Mutation | c.112N>T | p.Val38Phe | p.V38F | O15239 | protein_coding | tolerated(0.1) | benign(0.003) | TCGA-EY-A1GV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | SD | |
| NDUFA1 | SNV | Missense_Mutation | novel | c.36N>T | p.Met12Ile | p.M12I | O15239 | protein_coding | tolerated(0.24) | benign(0.199) | TCGA-05-4396-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
| NDUFA1 | SNV | Missense_Mutation | c.135N>C | p.Trp45Cys | p.W45C | O15239 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-55-7283-01 | Lung | lung adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PR |
| Page: 1 2 |
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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 |
| 4694 | NDUFA1 | ENZYME | inhibitor | CHEMBL1703 | METFORMIN HYDROCHLORIDE | |
| 4694 | NDUFA1 | ENZYME | inhibitor | CHEMBL3545320 | ME-344 | |
| 4694 | NDUFA1 | ENZYME | inhibitor | CHEMBL3545135 | NV-128 |
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