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Gene: NDUFA4L2 |
Gene summary for NDUFA4L2 |
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Gene information | Species | Human | Gene symbol | NDUFA4L2 | Gene ID | 56901 |
Gene name | NDUFA4 mitochondrial complex associated like 2 | |
Gene Alias | COXFA4L2 | |
Cytomap | 12q13.3 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | A0A024RB39 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
56901 | NDUFA4L2 | GSM4909281 | Human | Breast | IDC | 1.25e-05 | 3.46e-01 | 0.21 |
56901 | NDUFA4L2 | GSM4909282 | Human | Breast | IDC | 1.43e-76 | 1.17e+00 | -0.0288 |
56901 | NDUFA4L2 | GSM4909285 | Human | Breast | IDC | 3.82e-92 | 1.42e+00 | 0.21 |
56901 | NDUFA4L2 | ctrl6 | Human | Breast | Precancer | 1.72e-03 | 2.70e-01 | -0.0061 |
56901 | NDUFA4L2 | brca10 | Human | Breast | Precancer | 8.80e-04 | 3.22e-01 | -0.0029 |
56901 | NDUFA4L2 | P2 | Human | Breast | IDC | 2.40e-06 | 4.31e-01 | 0.21 |
56901 | NDUFA4L2 | CA_HPV_2 | Human | Cervix | CC | 1.52e-12 | 4.00e-01 | 0.0391 |
56901 | NDUFA4L2 | Tumor | Human | Cervix | CC | 5.33e-71 | 1.26e+00 | 0.1241 |
56901 | NDUFA4L2 | sample1 | Human | Cervix | CC | 5.89e-28 | 8.95e-01 | 0.0959 |
56901 | NDUFA4L2 | sample3 | Human | Cervix | CC | 9.80e-97 | 1.46e+00 | 0.1387 |
56901 | NDUFA4L2 | L1 | Human | Cervix | CC | 1.76e-17 | 8.35e-01 | 0.0802 |
56901 | NDUFA4L2 | T1 | Human | Cervix | CC | 3.66e-41 | 8.55e-01 | 0.0918 |
56901 | NDUFA4L2 | T3 | Human | Cervix | CC | 2.70e-97 | 1.44e+00 | 0.1389 |
56901 | NDUFA4L2 | LZE4T | Human | Esophagus | ESCC | 7.13e-48 | 2.35e+00 | 0.0811 |
56901 | NDUFA4L2 | LZE8T | Human | Esophagus | ESCC | 6.92e-19 | 1.65e+00 | 0.067 |
56901 | NDUFA4L2 | LZE20T | Human | Esophagus | ESCC | 1.86e-26 | 2.21e+00 | 0.0662 |
56901 | NDUFA4L2 | LZE22T | Human | Esophagus | ESCC | 2.66e-14 | 1.96e+00 | 0.068 |
56901 | NDUFA4L2 | LZE6T | Human | Esophagus | ESCC | 7.14e-05 | 7.73e-01 | 0.0845 |
56901 | NDUFA4L2 | P2T-E | Human | Esophagus | ESCC | 5.94e-55 | 1.69e+00 | 0.1177 |
56901 | NDUFA4L2 | P4T-E | Human | Esophagus | ESCC | 3.25e-45 | 2.97e+00 | 0.1323 |
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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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00190210 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
hsa05415211 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa04714211 | Esophagus | ESCC | Thermogenesis | 163/4205 | 232/8465 | 9.22e-11 | 1.14e-09 | 5.86e-10 | 163 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05012310 | Esophagus | ESCC | Parkinson disease | 201/4205 | 266/8465 | 1.56e-18 | 8.72e-17 | 4.46e-17 | 201 |
hsa05208310 | Esophagus | ESCC | Chemical carcinogenesis - reactive oxygen species | 168/4205 | 223/8465 | 1.83e-15 | 6.81e-14 | 3.49e-14 | 168 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501038 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0493238 | Esophagus | ESCC | Non-alcoholic fatty liver disease | 122/4205 | 155/8465 | 5.69e-14 | 1.59e-12 | 8.14e-13 | 122 |
hsa0502038 | Esophagus | ESCC | Prion disease | 193/4205 | 273/8465 | 6.42e-13 | 1.34e-11 | 6.89e-12 | 193 |
hsa0019038 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
hsa0541538 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa04714310 | Esophagus | ESCC | Thermogenesis | 163/4205 | 232/8465 | 9.22e-11 | 1.14e-09 | 5.86e-10 | 163 |
hsa0501222 | Liver | HCC | Parkinson disease | 198/4020 | 266/8465 | 9.40e-20 | 1.58e-17 | 8.76e-18 | 198 |
hsa0501622 | Liver | HCC | Huntington disease | 219/4020 | 306/8465 | 3.06e-18 | 3.42e-16 | 1.90e-16 | 219 |
hsa0501422 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa0520842 | Liver | HCC | Chemical carcinogenesis - reactive oxygen species | 167/4020 | 223/8465 | 2.85e-17 | 1.91e-15 | 1.06e-15 | 167 |
hsa0493242 | Liver | HCC | Non-alcoholic fatty liver disease | 124/4020 | 155/8465 | 4.54e-17 | 2.54e-15 | 1.41e-15 | 124 |
hsa0502022 | Liver | HCC | Prion disease | 195/4020 | 273/8465 | 3.26e-16 | 1.56e-14 | 8.67e-15 | 195 |
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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 |
NDUFA4L2 | SNV | Missense_Mutation | c.22G>C | p.Ala8Pro | p.A8P | Q9NRX3 | protein_coding | tolerated(0.26) | benign(0.137) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD | |
NDUFA4L2 | SNV | Missense_Mutation | c.261N>G | p.Phe87Leu | p.F87L | Q9NRX3 | protein_coding | deleterious(0.01) | probably_damaging(0.973) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
NDUFA4L2 | SNV | Missense_Mutation | c.185N>C | p.Leu62Pro | p.L62P | Q9NRX3 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NDUFA4L2 | SNV | Missense_Mutation | c.112T>A | p.Leu38Met | p.L38M | Q9NRX3 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR | |
NDUFA4L2 | SNV | Missense_Mutation | novel | c.131N>A | p.Arg44His | p.R44H | Q9NRX3 | protein_coding | tolerated(0.21) | possibly_damaging(0.652) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NDUFA4L2 | SNV | Missense_Mutation | rs372249235 | c.73G>A | p.Gly25Ser | p.G25S | Q9NRX3 | protein_coding | deleterious(0.05) | benign(0) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NDUFA4L2 | SNV | Missense_Mutation | novel | c.4N>A | p.Ala2Thr | p.A2T | Q9NRX3 | protein_coding | tolerated(0.17) | benign(0.124) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NDUFA4L2 | SNV | Missense_Mutation | novel | c.94G>T | p.Gly32Cys | p.G32C | Q9NRX3 | protein_coding | tolerated(0.09) | benign(0.306) | TCGA-34-2604-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NDUFA4L2 | SNV | Missense_Mutation | novel | c.181N>G | p.Arg61Gly | p.R61G | Q9NRX3 | protein_coding | deleterious(0) | possibly_damaging(0.634) | TCGA-NC-A5HK-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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 |
56901 | NDUFA4L2 | NA | inhibitor | CHEMBL3545135 | NV-128 | |
56901 | NDUFA4L2 | NA | inhibitor | CHEMBL1703 | METFORMIN HYDROCHLORIDE | |
56901 | NDUFA4L2 | NA | inhibitor | CHEMBL3545320 | ME-344 |
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