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Gene: NDUFA6 |
Gene summary for NDUFA6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NDUFA6 | Gene ID | 4700 |
| Gene name | NADH:ubiquinone oxidoreductase subunit A6 | |
| Gene Alias | B14 | |
| Cytomap | 22q13.2 | |
| Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | P56556 |
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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 |
| 4700 | NDUFA6 | P107T-E | Human | Esophagus | ESCC | 5.43e-78 | 2.57e+00 | 0.171 |
| 4700 | NDUFA6 | P126T-E | Human | Esophagus | ESCC | 1.40e-21 | 2.09e+00 | 0.1125 |
| 4700 | NDUFA6 | P127T-E | Human | Esophagus | ESCC | 1.35e-22 | 3.50e-01 | 0.0826 |
| 4700 | NDUFA6 | P128T-E | Human | Esophagus | ESCC | 3.21e-66 | 2.60e+00 | 0.1241 |
| 4700 | NDUFA6 | P130T-E | Human | Esophagus | ESCC | 1.33e-111 | 2.72e+00 | 0.1676 |
| 4700 | NDUFA6 | S41 | Human | Liver | Cirrhotic | 2.39e-03 | -5.36e-01 | -0.0343 |
| 4700 | NDUFA6 | S43 | Human | Liver | Cirrhotic | 3.93e-18 | -4.84e-01 | -0.0187 |
| 4700 | NDUFA6 | HCC1_Meng | Human | Liver | HCC | 1.15e-70 | 3.99e-01 | 0.0246 |
| 4700 | NDUFA6 | HCC2_Meng | Human | Liver | HCC | 1.47e-42 | -2.15e-02 | 0.0107 |
| 4700 | NDUFA6 | cirrhotic1 | Human | Liver | Cirrhotic | 1.15e-23 | 2.50e-01 | 0.0202 |
| 4700 | NDUFA6 | cirrhotic2 | Human | Liver | Cirrhotic | 3.14e-28 | 3.19e-01 | 0.0201 |
| 4700 | NDUFA6 | cirrhotic3 | Human | Liver | Cirrhotic | 2.46e-22 | 3.59e-01 | 0.0215 |
| 4700 | NDUFA6 | p6 | Human | Liver | Cyst | 2.39e-03 | -5.36e-01 | -0.0218 |
| 4700 | NDUFA6 | HCC1 | Human | Liver | HCC | 4.50e-18 | 5.70e+00 | 0.5336 |
| 4700 | NDUFA6 | HCC2 | Human | Liver | HCC | 2.45e-34 | 6.41e+00 | 0.5341 |
| 4700 | NDUFA6 | Pt13.a | Human | Liver | HCC | 2.19e-08 | 2.58e-01 | 0.021 |
| 4700 | NDUFA6 | Pt13.b | Human | Liver | HCC | 1.20e-44 | 3.87e-01 | 0.0251 |
| 4700 | NDUFA6 | Pt14.a | Human | Liver | HCC | 7.58e-05 | 3.61e-01 | 0.0169 |
| 4700 | NDUFA6 | Pt14.b | Human | Liver | HCC | 5.45e-06 | 4.02e-01 | 0.018 |
| 4700 | NDUFA6 | S014 | Human | Liver | HCC | 5.19e-37 | 2.14e+00 | 0.2254 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| 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 | ||
| 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:00460349 | Breast | Precancer | ATP metabolic process | 82/1080 | 277/18723 | 1.94e-36 | 5.19e-33 | 82 |
| GO:00061199 | Breast | Precancer | oxidative phosphorylation | 53/1080 | 141/18723 | 1.15e-29 | 2.04e-26 | 53 |
| GO:00090608 | Breast | Precancer | aerobic respiration | 58/1080 | 189/18723 | 5.69e-27 | 7.62e-24 | 58 |
| GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
| GO:00453338 | Breast | Precancer | cellular respiration | 59/1080 | 230/18723 | 5.97e-23 | 5.32e-20 | 59 |
| GO:00159808 | Breast | Precancer | energy derivation by oxidation of organic compounds | 70/1080 | 318/18723 | 8.33e-23 | 6.37e-20 | 70 |
| GO:00196468 | Breast | Precancer | aerobic electron transport chain | 34/1080 | 87/18723 | 3.95e-20 | 2.64e-17 | 34 |
| GO:00427738 | Breast | Precancer | ATP synthesis coupled electron transport | 35/1080 | 95/18723 | 1.08e-19 | 5.76e-17 | 35 |
| GO:00427758 | Breast | Precancer | mitochondrial ATP synthesis coupled electron transport | 35/1080 | 95/18723 | 1.08e-19 | 5.76e-17 | 35 |
| GO:00229048 | Breast | Precancer | respiratory electron transport chain | 35/1080 | 114/18723 | 8.51e-17 | 3.26e-14 | 35 |
| GO:00229008 | Breast | Precancer | electron transport chain | 42/1080 | 175/18723 | 1.37e-15 | 4.59e-13 | 42 |
| GO:00069799 | Breast | Precancer | response to oxidative stress | 70/1080 | 446/18723 | 1.59e-14 | 4.26e-12 | 70 |
| GO:00061208 | Breast | Precancer | mitochondrial electron transport, NADH to ubiquinone | 19/1080 | 51/18723 | 2.05e-11 | 2.49e-09 | 19 |
| 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: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 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0501218 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
| hsa0502016 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
| hsa0501616 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0019016 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0501016 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
| hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
| hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
| hsa0520818 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
| hsa0471418 | Breast | Precancer | Thermogenesis | 68/684 | 232/8465 | 4.40e-22 | 1.26e-20 | 9.69e-21 | 68 |
| hsa0541518 | Breast | Precancer | Diabetic cardiomyopathy | 63/684 | 203/8465 | 5.63e-22 | 1.48e-20 | 1.14e-20 | 63 |
| hsa0493216 | Breast | Precancer | Non-alcoholic fatty liver disease | 48/684 | 155/8465 | 6.16e-17 | 1.50e-15 | 1.15e-15 | 48 |
| hsa0472316 | Breast | Precancer | Retrograde endocannabinoid signaling | 25/684 | 148/8465 | 3.05e-04 | 2.47e-03 | 1.89e-03 | 25 |
| hsa0501219 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
| hsa0502017 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
| hsa0501617 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0019017 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0501017 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
| hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
| hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
| hsa0520819 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 |
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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 |
| NDUFA6 | SNV | Missense_Mutation | rs8139803 | c.256N>T | p.Arg86Trp | p.R86W | P56556 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E9-A1RF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
| NDUFA6 | SNV | Missense_Mutation | rs776731051 | c.413N>T | p.Ala138Val | p.A138V | P56556 | protein_coding | tolerated(0.26) | benign(0.001) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
| NDUFA6 | SNV | Missense_Mutation | c.325N>T | p.Val109Phe | p.V109F | P56556 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| NDUFA6 | SNV | Missense_Mutation | rs535753197 | c.377G>A | p.Arg126Gln | p.R126Q | P56556 | protein_coding | tolerated(0.09) | benign(0.421) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| NDUFA6 | SNV | Missense_Mutation | novel | c.316G>A | p.Asp106Asn | p.D106N | P56556 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| NDUFA6 | SNV | Missense_Mutation | novel | c.284N>G | p.Lys95Arg | p.K95R | P56556 | protein_coding | tolerated(0.34) | benign(0.039) | TCGA-60-2715-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | docetaxel | PD |
| NDUFA6 | deletion | Frame_Shift_Del | c.69delN | p.Phe24LeufsTer20 | p.F24Lfs*20 | P56556 | protein_coding | TCGA-55-7283-01 | Lung | lung adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PR | |||
| NDUFA6 | insertion | In_Frame_Ins | novel | c.42_43insGTTTGGAAAATAGAGAAAAGAGGAATGGAA | p.Cys14_Lys15insValTrpLysIleGluLysArgGlyMetGlu | p.C14_K15insVWKIEKRGME | P56556 | protein_coding | TCGA-46-6025-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | SD | ||
| NDUFA6 | SNV | Missense_Mutation | c.359N>A | p.Ile120Asn | p.I120N | P56556 | protein_coding | tolerated(0.06) | benign(0.062) | TCGA-BR-4361-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| NDUFA6 | deletion | Frame_Shift_Del | rs768463498 | c.359_362delNNNN | p.Ile120LysfsTer44 | p.I120Kfs*44 | P56556 | protein_coding | TCGA-DJ-A2PY-01 | Thyroid | thyroid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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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 |
| 4700 | NDUFA6 | ENZYME | inhibitor | CHEMBL3545320 | ME-344 | |
| 4700 | NDUFA6 | ENZYME | inhibitor | CHEMBL3545135 | NV-128 | |
| 4700 | NDUFA6 | ENZYME | inhibitor | CHEMBL1703 | METFORMIN HYDROCHLORIDE |
| Page: 1 |
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