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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 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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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 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501632 | Liver | HCC | Huntington disease | 219/4020 | 306/8465 | 3.06e-18 | 3.42e-16 | 1.90e-16 | 219 |
hsa0501432 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa0520852 | Liver | HCC | Chemical carcinogenesis - reactive oxygen species | 167/4020 | 223/8465 | 2.85e-17 | 1.91e-15 | 1.06e-15 | 167 |
hsa0493252 | Liver | HCC | Non-alcoholic fatty liver disease | 124/4020 | 155/8465 | 4.54e-17 | 2.54e-15 | 1.41e-15 | 124 |
hsa0502032 | Liver | HCC | Prion disease | 195/4020 | 273/8465 | 3.26e-16 | 1.56e-14 | 8.67e-15 | 195 |
hsa0471432 | Liver | HCC | Thermogenesis | 170/4020 | 232/8465 | 5.36e-16 | 2.25e-14 | 1.25e-14 | 170 |
hsa0541532 | Liver | HCC | Diabetic cardiomyopathy | 151/4020 | 203/8465 | 2.72e-15 | 1.01e-13 | 5.63e-14 | 151 |
hsa0501032 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
hsa0019032 | Liver | HCC | Oxidative phosphorylation | 103/4020 | 134/8465 | 2.39e-12 | 5.01e-11 | 2.79e-11 | 103 |
hsa0502232 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0493228 | Oral cavity | OSCC | Non-alcoholic fatty liver disease | 124/3704 | 155/8465 | 1.22e-20 | 1.37e-18 | 6.96e-19 | 124 |
hsa0501230 | Oral cavity | OSCC | Parkinson disease | 188/3704 | 266/8465 | 1.82e-19 | 1.52e-17 | 7.75e-18 | 188 |
hsa0501628 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
hsa0501028 | Oral cavity | OSCC | Alzheimer disease | 244/3704 | 384/8465 | 1.18e-15 | 3.60e-14 | 1.83e-14 | 244 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa0502028 | Oral cavity | OSCC | Prion disease | 181/3704 | 273/8465 | 2.05e-14 | 5.30e-13 | 2.70e-13 | 181 |
hsa0520830 | Oral cavity | OSCC | Chemical carcinogenesis - reactive oxygen species | 150/3704 | 223/8465 | 6.45e-13 | 1.20e-11 | 6.11e-12 | 150 |
hsa0541529 | Oral cavity | OSCC | Diabetic cardiomyopathy | 131/3704 | 203/8465 | 1.33e-09 | 1.49e-08 | 7.57e-09 | 131 |
hsa0019028 | Oral cavity | OSCC | Oxidative phosphorylation | 88/3704 | 134/8465 | 2.15e-07 | 1.44e-06 | 7.32e-07 | 88 |
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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 |
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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. |
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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 |
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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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