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Gene: NDUFA12 |
Gene summary for NDUFA12 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NDUFA12 | Gene ID | 55967 |
| Gene name | NADH:ubiquinone oxidoreductase subunit A12 | |
| Gene Alias | B17.2 | |
| Cytomap | 12q22 | |
| Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | Q9UI09 |
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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 |
| 55967 | NDUFA12 | CA_HPV_1 | Human | Cervix | CC | 1.55e-08 | -1.82e-01 | 0.0264 |
| 55967 | NDUFA12 | CCI_1 | Human | Cervix | CC | 2.89e-05 | -5.79e-01 | 0.528 |
| 55967 | NDUFA12 | CCI_3 | Human | Cervix | CC | 1.74e-04 | -4.86e-01 | 0.516 |
| 55967 | NDUFA12 | CCII_1 | Human | Cervix | CC | 9.38e-17 | -6.56e-01 | 0.3249 |
| 55967 | NDUFA12 | L1 | Human | Cervix | CC | 1.37e-04 | -3.01e-01 | 0.0802 |
| 55967 | NDUFA12 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.01e-06 | 4.38e-01 | -0.1808 |
| 55967 | NDUFA12 | HTA11_1938_2000001011 | Human | Colorectum | AD | 6.37e-14 | 7.16e-01 | -0.0811 |
| 55967 | NDUFA12 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.46e-13 | 4.52e-01 | -0.1954 |
| 55967 | NDUFA12 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.66e-02 | 4.46e-01 | -0.1207 |
| 55967 | NDUFA12 | HTA11_83_2000001011 | Human | Colorectum | SER | 9.82e-03 | 3.44e-01 | -0.1526 |
| 55967 | NDUFA12 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.58e-05 | 3.65e-01 | -0.1464 |
| 55967 | NDUFA12 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.10e-14 | 7.51e-01 | -0.059 |
| 55967 | NDUFA12 | HTA11_2992_2000001011 | Human | Colorectum | SER | 6.91e-07 | 7.91e-01 | -0.1706 |
| 55967 | NDUFA12 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.36e-11 | 8.29e-01 | -0.2061 |
| 55967 | NDUFA12 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.47e-03 | 3.93e-01 | -0.0842 |
| 55967 | NDUFA12 | HTA11_7862_2000001011 | Human | Colorectum | AD | 3.99e-03 | 4.04e-01 | -0.0179 |
| 55967 | NDUFA12 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.10e-07 | 3.23e-01 | 0.096 |
| 55967 | NDUFA12 | HTA11_4255_2000001011 | Human | Colorectum | SER | 3.19e-02 | 4.65e-01 | 0.0446 |
| 55967 | NDUFA12 | HTA11_7663_2000001011 | Human | Colorectum | SER | 1.12e-03 | 5.34e-01 | 0.0131 |
| 55967 | NDUFA12 | HTA11_6801_2000001011 | Human | Colorectum | SER | 2.99e-05 | 6.14e-01 | 0.0171 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| 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 | ||
| 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:0015980111 | Thyroid | PTC | energy derivation by oxidation of organic compounds | 176/5968 | 318/18723 | 2.67e-18 | 2.90e-16 | 176 |
| GO:0042773111 | Thyroid | PTC | ATP synthesis coupled electron transport | 69/5968 | 95/18723 | 3.82e-16 | 3.05e-14 | 69 |
| GO:0042775111 | Thyroid | PTC | mitochondrial ATP synthesis coupled electron transport | 69/5968 | 95/18723 | 3.82e-16 | 3.05e-14 | 69 |
| GO:0022904111 | Thyroid | PTC | respiratory electron transport chain | 76/5968 | 114/18723 | 2.34e-14 | 1.50e-12 | 76 |
| GO:0022900111 | Thyroid | PTC | electron transport chain | 104/5968 | 175/18723 | 4.68e-14 | 2.79e-12 | 104 |
| GO:0033108111 | Thyroid | PTC | mitochondrial respiratory chain complex assembly | 65/5968 | 93/18723 | 5.60e-14 | 3.21e-12 | 65 |
| GO:0010257111 | Thyroid | PTC | NADH dehydrogenase complex assembly | 43/5968 | 57/18723 | 1.73e-11 | 6.81e-10 | 43 |
| GO:0032981111 | Thyroid | PTC | mitochondrial respiratory chain complex I assembly | 43/5968 | 57/18723 | 1.73e-11 | 6.81e-10 | 43 |
| GO:000697934 | Thyroid | ATC | response to oxidative stress | 246/6293 | 446/18723 | 2.98e-21 | 6.09e-19 | 246 |
| GO:000906033 | Thyroid | ATC | aerobic respiration | 126/6293 | 189/18723 | 1.21e-20 | 2.02e-18 | 126 |
| GO:004603434 | Thyroid | ATC | ATP metabolic process | 167/6293 | 277/18723 | 5.60e-20 | 8.64e-18 | 167 |
| GO:000609134 | Thyroid | ATC | generation of precursor metabolites and energy | 256/6293 | 490/18723 | 6.55e-18 | 7.69e-16 | 256 |
| GO:004533333 | Thyroid | ATC | cellular respiration | 140/6293 | 230/18723 | 1.76e-17 | 1.89e-15 | 140 |
| GO:000611933 | Thyroid | ATC | oxidative phosphorylation | 96/6293 | 141/18723 | 5.40e-17 | 4.88e-15 | 96 |
| GO:001598034 | Thyroid | ATC | energy derivation by oxidation of organic compounds | 177/6293 | 318/18723 | 3.60e-16 | 2.92e-14 | 177 |
| GO:004277333 | Thyroid | ATC | ATP synthesis coupled electron transport | 69/6293 | 95/18723 | 7.86e-15 | 4.78e-13 | 69 |
| GO:004277533 | Thyroid | ATC | mitochondrial ATP synthesis coupled electron transport | 69/6293 | 95/18723 | 7.86e-15 | 4.78e-13 | 69 |
| GO:002290034 | Thyroid | ATC | electron transport chain | 106/6293 | 175/18723 | 2.20e-13 | 1.06e-11 | 106 |
| GO:002290433 | Thyroid | ATC | respiratory electron transport chain | 76/6293 | 114/18723 | 5.17e-13 | 2.30e-11 | 76 |
| GO:003310832 | Thyroid | ATC | mitochondrial respiratory chain complex assembly | 65/6293 | 93/18723 | 8.86e-13 | 3.81e-11 | 65 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
| 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 |
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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 |
| NDUFA12 | insertion | Frame_Shift_Ins | novel | c.8_9insGGGGGAAGACAAATATGGAAACAAATACTATGAAGACAACA | p.Val4GlyfsTer18 | p.V4Gfs*18 | Q9UI09 | protein_coding | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | |||
| NDUFA12 | SNV | Missense_Mutation | rs374995908 | c.317N>A | p.Arg106His | p.R106H | Q9UI09 | protein_coding | tolerated(0.2) | benign(0.005) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| NDUFA12 | SNV | Missense_Mutation | c.290C>A | p.Pro97His | p.P97H | Q9UI09 | protein_coding | deleterious(0) | possibly_damaging(0.854) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| NDUFA12 | SNV | Missense_Mutation | c.67N>C | p.Tyr23His | p.Y23H | Q9UI09 | protein_coding | tolerated(0.53) | benign(0.026) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| NDUFA12 | SNV | Missense_Mutation | novel | c.286N>T | p.Asp96Tyr | p.D96Y | Q9UI09 | protein_coding | deleterious(0.03) | possibly_damaging(0.873) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| NDUFA12 | SNV | Missense_Mutation | rs766118227 | c.146N>G | p.Tyr49Cys | p.Y49C | Q9UI09 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| NDUFA12 | SNV | Missense_Mutation | novel | c.115N>A | p.Val39Met | p.V39M | Q9UI09 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-PG-A6IB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| NDUFA12 | insertion | Frame_Shift_Ins | novel | c.332_333insAGAAAAGG | p.Asn112GlufsTer9 | p.N112Efs*9 | Q9UI09 | protein_coding | TCGA-D1-A102-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| NDUFA12 | SNV | Missense_Mutation | c.46N>T | p.Gly16Cys | p.G16C | Q9UI09 | protein_coding | deleterious(0.03) | possibly_damaging(0.855) | TCGA-05-4382-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| NDUFA12 | SNV | Missense_Mutation | c.292N>T | p.Pro98Ser | p.P98S | Q9UI09 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-44-A47A-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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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 |
| 55967 | NDUFA12 | ENZYME | inhibitor | CHEMBL3545135 | NV-128 | |
| 55967 | NDUFA12 | ENZYME | inhibitor | CHEMBL1703 | METFORMIN HYDROCHLORIDE | |
| 55967 | NDUFA12 | ENZYME | inhibitor | CHEMBL3545320 | ME-344 |
| Page: 1 |
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