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Gene: NDUFB5 |
Gene summary for NDUFB5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NDUFB5 | Gene ID | 4711 |
| Gene name | NADH:ubiquinone oxidoreductase subunit B5 | |
| Gene Alias | CISGDH | |
| Cytomap | 3q26.33 | |
| Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | O43674 |
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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 |
| 4711 | NDUFB5 | GSM4909281 | Human | Breast | IDC | 9.51e-16 | 5.63e-01 | 0.21 |
| 4711 | NDUFB5 | GSM4909282 | Human | Breast | IDC | 7.14e-06 | 3.94e-01 | -0.0288 |
| 4711 | NDUFB5 | GSM4909285 | Human | Breast | IDC | 1.91e-60 | 9.66e-01 | 0.21 |
| 4711 | NDUFB5 | GSM4909293 | Human | Breast | IDC | 4.10e-03 | 3.18e-01 | 0.1581 |
| 4711 | NDUFB5 | GSM4909294 | Human | Breast | IDC | 4.74e-02 | -5.54e-02 | 0.2022 |
| 4711 | NDUFB5 | GSM4909296 | Human | Breast | IDC | 2.44e-07 | -8.42e-02 | 0.1524 |
| 4711 | NDUFB5 | GSM4909297 | Human | Breast | IDC | 8.94e-12 | -8.44e-02 | 0.1517 |
| 4711 | NDUFB5 | GSM4909301 | Human | Breast | IDC | 1.96e-09 | -2.46e-01 | 0.1577 |
| 4711 | NDUFB5 | GSM4909308 | Human | Breast | IDC | 3.61e-12 | 4.77e-01 | 0.158 |
| 4711 | NDUFB5 | GSM4909311 | Human | Breast | IDC | 8.06e-22 | -3.29e-01 | 0.1534 |
| 4711 | NDUFB5 | GSM4909312 | Human | Breast | IDC | 1.44e-07 | -1.27e-02 | 0.1552 |
| 4711 | NDUFB5 | GSM4909316 | Human | Breast | IDC | 5.07e-06 | 3.90e-01 | 0.21 |
| 4711 | NDUFB5 | GSM4909319 | Human | Breast | IDC | 1.14e-29 | -3.16e-01 | 0.1563 |
| 4711 | NDUFB5 | GSM4909320 | Human | Breast | IDC | 1.25e-04 | -2.88e-01 | 0.1575 |
| 4711 | NDUFB5 | GSM4909321 | Human | Breast | IDC | 2.86e-10 | 3.40e-02 | 0.1559 |
| 4711 | NDUFB5 | NCCBC14 | Human | Breast | DCIS | 1.72e-05 | 8.35e-02 | 0.2021 |
| 4711 | NDUFB5 | NCCBC5 | Human | Breast | DCIS | 1.31e-08 | 4.92e-02 | 0.2046 |
| 4711 | NDUFB5 | P1 | Human | Breast | IDC | 5.40e-12 | -2.23e-01 | 0.1527 |
| 4711 | NDUFB5 | P2 | Human | Breast | IDC | 3.47e-07 | 3.94e-01 | 0.21 |
| 4711 | NDUFB5 | DCIS2 | Human | Breast | DCIS | 2.77e-50 | 1.66e-01 | 0.0085 |
| Page: 1 2 3 4 5 6 7 8 9 |
| 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 | ||
| 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: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 |
| GO:004533313 | Breast | IDC | cellular respiration | 62/1434 | 230/18723 | 5.98e-19 | 4.25e-16 | 62 |
| GO:004277313 | Breast | IDC | ATP synthesis coupled electron transport | 38/1434 | 95/18723 | 1.65e-18 | 9.36e-16 | 38 |
| GO:004277513 | Breast | IDC | mitochondrial ATP synthesis coupled electron transport | 38/1434 | 95/18723 | 1.65e-18 | 9.36e-16 | 38 |
| GO:001964613 | Breast | IDC | aerobic electron transport chain | 36/1434 | 87/18723 | 3.48e-18 | 1.80e-15 | 36 |
| GO:001598013 | Breast | IDC | energy derivation by oxidation of organic compounds | 73/1434 | 318/18723 | 8.70e-18 | 3.80e-15 | 73 |
| GO:002290013 | Breast | IDC | electron transport chain | 51/1434 | 175/18723 | 2.23e-17 | 8.43e-15 | 51 |
| GO:002290413 | Breast | IDC | respiratory electron transport chain | 38/1434 | 114/18723 | 2.08e-15 | 6.94e-13 | 38 |
| GO:000612013 | Breast | IDC | mitochondrial electron transport, NADH to ubiquinone | 21/1434 | 51/18723 | 3.92e-11 | 6.02e-09 | 21 |
| GO:001025713 | Breast | IDC | NADH dehydrogenase complex assembly | 22/1434 | 57/18723 | 6.20e-11 | 8.80e-09 | 22 |
| GO:003298113 | Breast | IDC | mitochondrial respiratory chain complex I assembly | 22/1434 | 57/18723 | 6.20e-11 | 8.80e-09 | 22 |
| GO:003310813 | Breast | IDC | mitochondrial respiratory chain complex assembly | 28/1434 | 93/18723 | 1.54e-10 | 1.83e-08 | 28 |
| GO:004603424 | Breast | DCIS | ATP metabolic process | 85/1390 | 277/18723 | 6.79e-31 | 1.92e-27 | 85 |
| GO:000611923 | Breast | DCIS | oxidative phosphorylation | 56/1390 | 141/18723 | 3.89e-27 | 7.34e-24 | 56 |
| GO:000906023 | Breast | DCIS | aerobic respiration | 61/1390 | 189/18723 | 8.72e-24 | 1.23e-20 | 61 |
| GO:000609123 | Breast | DCIS | generation of precursor metabolites and energy | 103/1390 | 490/18723 | 1.46e-22 | 1.65e-19 | 103 |
| GO:004533323 | Breast | DCIS | cellular respiration | 62/1390 | 230/18723 | 1.26e-19 | 1.02e-16 | 62 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0501224 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
| hsa0502023 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
| hsa0501623 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
| hsa0019023 | Breast | IDC | Oxidative phosphorylation | 62/867 | 134/8465 | 4.78e-27 | 2.59e-25 | 1.94e-25 | 62 |
| hsa0501023 | Breast | IDC | Alzheimer disease | 107/867 | 384/8465 | 1.70e-23 | 7.88e-22 | 5.90e-22 | 107 |
| hsa0501423 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
| hsa0471424 | Breast | IDC | Thermogenesis | 75/867 | 232/8465 | 8.41e-21 | 3.04e-19 | 2.27e-19 | 75 |
| hsa0502223 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
| hsa0520824 | Breast | IDC | Chemical carcinogenesis - reactive oxygen species | 71/867 | 223/8465 | 2.55e-19 | 7.53e-18 | 5.63e-18 | 71 |
| hsa0541523 | Breast | IDC | Diabetic cardiomyopathy | 67/867 | 203/8465 | 3.17e-19 | 8.59e-18 | 6.43e-18 | 67 |
| hsa0493223 | Breast | IDC | Non-alcoholic fatty liver disease | 50/867 | 155/8465 | 3.48e-14 | 8.08e-13 | 6.05e-13 | 50 |
| hsa0472323 | Breast | IDC | Retrograde endocannabinoid signaling | 31/867 | 148/8465 | 7.62e-05 | 7.50e-04 | 5.61e-04 | 31 |
| hsa0501234 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
| hsa0502033 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
| hsa0501633 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
| hsa0019033 | Breast | IDC | Oxidative phosphorylation | 62/867 | 134/8465 | 4.78e-27 | 2.59e-25 | 1.94e-25 | 62 |
| hsa0501033 | Breast | IDC | Alzheimer disease | 107/867 | 384/8465 | 1.70e-23 | 7.88e-22 | 5.90e-22 | 107 |
| hsa0501433 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
| hsa0471434 | Breast | IDC | Thermogenesis | 75/867 | 232/8465 | 8.41e-21 | 3.04e-19 | 2.27e-19 | 75 |
| hsa0502233 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
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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 |
| NDUFB5 | SNV | Missense_Mutation | rs373322203 | c.76N>T | p.Arg26Cys | p.R26C | O43674 | protein_coding | tolerated(0.12) | possibly_damaging(0.663) | TCGA-D8-A1XJ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
| NDUFB5 | SNV | Missense_Mutation | novel | c.20N>G | p.Leu7Trp | p.L7W | O43674 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EW-A1OZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | SD |
| NDUFB5 | SNV | Missense_Mutation | c.289N>A | p.Glu97Lys | p.E97K | O43674 | protein_coding | tolerated(0.12) | possibly_damaging(0.836) | TCGA-A6-2679-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| NDUFB5 | SNV | Missense_Mutation | c.345N>G | p.His115Gln | p.H115Q | O43674 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD | |
| NDUFB5 | SNV | Missense_Mutation | c.122C>A | p.Ala41Asp | p.A41D | O43674 | protein_coding | tolerated(0.64) | benign(0) | TCGA-G4-6320-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | oxaliplatin | SD | |
| NDUFB5 | SNV | Missense_Mutation | novel | c.356N>T | p.Arg119Ile | p.R119I | O43674 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| NDUFB5 | SNV | Missense_Mutation | rs757736171 | c.197G>A | p.Arg66His | p.R66H | O43674 | protein_coding | deleterious(0.01) | probably_damaging(0.959) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| NDUFB5 | SNV | Missense_Mutation | novel | c.533N>G | p.Leu178Arg | p.L178R | O43674 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
| NDUFB5 | SNV | Missense_Mutation | novel | c.186N>A | p.Phe62Leu | p.F62L | O43674 | protein_coding | deleterious(0.01) | possibly_damaging(0.755) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| NDUFB5 | SNV | Missense_Mutation | novel | c.125N>A | p.Ala42Asp | p.A42D | O43674 | protein_coding | tolerated(0.08) | possibly_damaging(0.698) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 |
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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 |
| 4711 | NDUFB5 | ENZYME | inhibitor | CHEMBL3545320 | ME-344 | |
| 4711 | NDUFB5 | ENZYME | inhibitor | CHEMBL3545135 | NV-128 | |
| 4711 | NDUFB5 | ENZYME | inhibitor | CHEMBL1703 | METFORMIN HYDROCHLORIDE |
| Page: 1 |
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