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Gene: NDUFAF2 |
Gene summary for NDUFAF2 |
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Gene information | Species | Human | Gene symbol | NDUFAF2 | Gene ID | 91942 |
Gene name | NADH:ubiquinone oxidoreductase complex assembly factor 2 | |
Gene Alias | B17.2L | |
Cytomap | 5q12.1 | |
Gene Type | protein-coding | GO ID | GO:0001678 | UniProtAcc | A0A0S2Z5U1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
91942 | NDUFAF2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.64e-12 | -5.33e-01 | 0.0155 |
91942 | NDUFAF2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.03e-04 | -4.95e-01 | -0.1808 |
91942 | NDUFAF2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.23e-03 | -5.56e-01 | -0.1207 |
91942 | NDUFAF2 | HTA11_696_2000001011 | Human | Colorectum | AD | 4.54e-16 | -3.99e-01 | -0.1464 |
91942 | NDUFAF2 | HTA11_866_2000001011 | Human | Colorectum | AD | 8.48e-11 | -4.09e-01 | -0.1001 |
91942 | NDUFAF2 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.25e-02 | -6.60e-01 | -0.2061 |
91942 | NDUFAF2 | HTA11_546_2000001011 | Human | Colorectum | AD | 4.99e-03 | -5.36e-01 | -0.0842 |
91942 | NDUFAF2 | HTA11_866_3004761011 | Human | Colorectum | AD | 4.61e-08 | -5.13e-01 | 0.096 |
91942 | NDUFAF2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 5.87e-03 | -4.96e-01 | 0.0338 |
91942 | NDUFAF2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 7.78e-20 | -4.64e-01 | 0.0674 |
91942 | NDUFAF2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 5.53e-13 | -4.56e-01 | 0.294 |
91942 | NDUFAF2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 8.33e-08 | -3.28e-01 | 0.3859 |
91942 | NDUFAF2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.01e-14 | -4.73e-01 | 0.3005 |
91942 | NDUFAF2 | A001-C-207 | Human | Colorectum | FAP | 2.27e-03 | -3.62e-01 | 0.1278 |
91942 | NDUFAF2 | A015-C-203 | Human | Colorectum | FAP | 1.34e-29 | -4.92e-01 | -0.1294 |
91942 | NDUFAF2 | A015-C-204 | Human | Colorectum | FAP | 8.49e-06 | -4.03e-01 | -0.0228 |
91942 | NDUFAF2 | A002-C-201 | Human | Colorectum | FAP | 6.93e-16 | -5.70e-01 | 0.0324 |
91942 | NDUFAF2 | A002-C-203 | Human | Colorectum | FAP | 2.56e-04 | -2.04e-01 | 0.2786 |
91942 | NDUFAF2 | A001-C-119 | Human | Colorectum | FAP | 3.47e-08 | -5.31e-01 | -0.1557 |
91942 | NDUFAF2 | A001-C-108 | Human | Colorectum | FAP | 6.48e-16 | -3.87e-01 | -0.0272 |
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∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0010257 | Colorectum | AD | NADH dehydrogenase complex assembly | 34/3918 | 57/18723 | 2.15e-10 | 1.89e-08 | 34 |
GO:0032981 | Colorectum | AD | mitochondrial respiratory chain complex I assembly | 34/3918 | 57/18723 | 2.15e-10 | 1.89e-08 | 34 |
GO:0033108 | Colorectum | AD | mitochondrial respiratory chain complex assembly | 46/3918 | 93/18723 | 8.95e-10 | 6.91e-08 | 46 |
GO:0009743 | Colorectum | AD | response to carbohydrate | 86/3918 | 253/18723 | 8.43e-07 | 2.90e-05 | 86 |
GO:0034284 | Colorectum | AD | response to monosaccharide | 76/3918 | 225/18723 | 4.64e-06 | 1.23e-04 | 76 |
GO:0033500 | Colorectum | AD | carbohydrate homeostasis | 84/3918 | 259/18723 | 9.10e-06 | 2.15e-04 | 84 |
GO:0009746 | Colorectum | AD | response to hexose | 73/3918 | 219/18723 | 1.20e-05 | 2.65e-04 | 73 |
GO:0009749 | Colorectum | AD | response to glucose | 71/3918 | 212/18723 | 1.31e-05 | 2.85e-04 | 71 |
GO:0042593 | Colorectum | AD | glucose homeostasis | 83/3918 | 258/18723 | 1.44e-05 | 3.11e-04 | 83 |
GO:0001678 | Colorectum | AD | cellular glucose homeostasis | 60/3918 | 172/18723 | 1.49e-05 | 3.18e-04 | 60 |
GO:0071322 | Colorectum | AD | cellular response to carbohydrate stimulus | 56/3918 | 163/18723 | 4.61e-05 | 7.97e-04 | 56 |
GO:0050708 | Colorectum | AD | regulation of protein secretion | 83/3918 | 268/18723 | 6.59e-05 | 1.07e-03 | 83 |
GO:0071333 | Colorectum | AD | cellular response to glucose stimulus | 52/3918 | 151/18723 | 7.88e-05 | 1.25e-03 | 52 |
GO:0009306 | Colorectum | AD | protein secretion | 105/3918 | 359/18723 | 1.05e-04 | 1.57e-03 | 105 |
GO:0071331 | Colorectum | AD | cellular response to hexose stimulus | 52/3918 | 153/18723 | 1.16e-04 | 1.71e-03 | 52 |
GO:0035592 | Colorectum | AD | establishment of protein localization to extracellular region | 105/3918 | 360/18723 | 1.18e-04 | 1.73e-03 | 105 |
GO:0071326 | Colorectum | AD | cellular response to monosaccharide stimulus | 52/3918 | 154/18723 | 1.40e-04 | 1.98e-03 | 52 |
GO:0071692 | Colorectum | AD | protein localization to extracellular region | 106/3918 | 368/18723 | 1.86e-04 | 2.49e-03 | 106 |
GO:0050796 | Colorectum | AD | regulation of insulin secretion | 54/3918 | 165/18723 | 2.60e-04 | 3.25e-03 | 54 |
GO:0030073 | Colorectum | AD | insulin secretion | 61/3918 | 195/18723 | 4.28e-04 | 4.81e-03 | 61 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04714 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa047141 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa047142 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
hsa047143 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
hsa047144 | Colorectum | MSS | Thermogenesis | 113/1875 | 232/8465 | 1.52e-19 | 4.62e-18 | 2.83e-18 | 113 |
hsa047145 | Colorectum | MSS | Thermogenesis | 113/1875 | 232/8465 | 1.52e-19 | 4.62e-18 | 2.83e-18 | 113 |
hsa047148 | Colorectum | FAP | Thermogenesis | 70/1404 | 232/8465 | 1.38e-07 | 3.08e-06 | 1.87e-06 | 70 |
hsa047149 | Colorectum | FAP | Thermogenesis | 70/1404 | 232/8465 | 1.38e-07 | 3.08e-06 | 1.87e-06 | 70 |
hsa04714211 | Esophagus | ESCC | Thermogenesis | 163/4205 | 232/8465 | 9.22e-11 | 1.14e-09 | 5.86e-10 | 163 |
hsa04714310 | Esophagus | ESCC | Thermogenesis | 163/4205 | 232/8465 | 9.22e-11 | 1.14e-09 | 5.86e-10 | 163 |
hsa0471414 | Liver | Cirrhotic | Thermogenesis | 121/2530 | 232/8465 | 5.70e-13 | 1.36e-11 | 8.36e-12 | 121 |
hsa0471415 | Liver | Cirrhotic | Thermogenesis | 121/2530 | 232/8465 | 5.70e-13 | 1.36e-11 | 8.36e-12 | 121 |
hsa0471422 | Liver | HCC | Thermogenesis | 170/4020 | 232/8465 | 5.36e-16 | 2.25e-14 | 1.25e-14 | 170 |
hsa0471432 | Liver | HCC | Thermogenesis | 170/4020 | 232/8465 | 5.36e-16 | 2.25e-14 | 1.25e-14 | 170 |
hsa0471430 | Oral cavity | OSCC | Thermogenesis | 138/3704 | 232/8465 | 7.67e-07 | 4.35e-06 | 2.22e-06 | 138 |
hsa04714113 | Oral cavity | OSCC | Thermogenesis | 138/3704 | 232/8465 | 7.67e-07 | 4.35e-06 | 2.22e-06 | 138 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
NDUFAF2 | SNV | Missense_Mutation | novel | c.222G>T | p.Trp74Cys | p.W74C | Q8N183 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A24W-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
NDUFAF2 | SNV | Missense_Mutation | rs769323668 | c.25N>T | p.Arg9Cys | p.R9C | Q8N183 | protein_coding | deleterious(0) | benign(0.011) | TCGA-A6-4105-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
NDUFAF2 | SNV | Missense_Mutation | c.410N>G | p.Tyr137Cys | p.Y137C | Q8N183 | protein_coding | tolerated(0.08) | benign(0.43) | TCGA-AA-3494-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folinic | PR | |
NDUFAF2 | SNV | Missense_Mutation | novel | c.134N>G | p.Thr45Ser | p.T45S | Q8N183 | protein_coding | tolerated(0.38) | possibly_damaging(0.54) | TCGA-AA-3666-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
NDUFAF2 | SNV | Missense_Mutation | c.128N>A | p.Gly43Glu | p.G43E | Q8N183 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3870-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | CR | |
NDUFAF2 | deletion | Frame_Shift_Del | c.184_185delNN | p.Tyr62Ter | p.Y62* | Q8N183 | protein_coding | TCGA-AA-3496-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
NDUFAF2 | SNV | Missense_Mutation | c.303N>C | p.Lys101Asn | p.K101N | Q8N183 | protein_coding | deleterious(0) | possibly_damaging(0.614) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
NDUFAF2 | SNV | Missense_Mutation | novel | c.477N>T | p.Trp159Cys | p.W159C | Q8N183 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NDUFAF2 | SNV | Missense_Mutation | novel | c.117N>T | p.Lys39Asn | p.K39N | Q8N183 | protein_coding | deleterious(0.01) | possibly_damaging(0.681) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NDUFAF2 | SNV | Missense_Mutation | novel | c.145N>G | p.Lys49Glu | p.K49E | Q8N183 | protein_coding | deleterious(0.04) | benign(0.391) | TCGA-DD-AADQ-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
91942 | NDUFAF2 | ENZYME | inhibitor | CHEMBL1703 | METFORMIN HYDROCHLORIDE | |
91942 | NDUFAF2 | ENZYME | inhibitor | CHEMBL3545135 | NV-128 | |
91942 | NDUFAF2 | ENZYME | inhibitor | CHEMBL3545320 | ME-344 |
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