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Gene: COX6B1 |
Gene summary for COX6B1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | COX6B1 | Gene ID | 1340 |
| Gene name | cytochrome c oxidase subunit 6B1 | |
| Gene Alias | COX6B | |
| Cytomap | 19q13.12 | |
| Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | P14854 |
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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 |
| 1340 | COX6B1 | P107T-E | Human | Esophagus | ESCC | 1.99e-92 | 3.62e+00 | 0.171 |
| 1340 | COX6B1 | P126T-E | Human | Esophagus | ESCC | 1.59e-25 | 3.13e+00 | 0.1125 |
| 1340 | COX6B1 | P127T-E | Human | Esophagus | ESCC | 1.86e-59 | 1.47e+00 | 0.0826 |
| 1340 | COX6B1 | P128T-E | Human | Esophagus | ESCC | 2.52e-59 | 3.54e+00 | 0.1241 |
| 1340 | COX6B1 | P130T-E | Human | Esophagus | ESCC | 7.06e-100 | 3.32e+00 | 0.1676 |
| 1340 | COX6B1 | NAFLD1 | Human | Liver | NAFLD | 1.98e-02 | -1.13e+00 | -0.04 |
| 1340 | COX6B1 | S41 | Human | Liver | Cirrhotic | 9.23e-10 | -1.08e+00 | -0.0343 |
| 1340 | COX6B1 | S42 | Human | Liver | HCC | 3.88e-06 | -9.32e-01 | -0.0103 |
| 1340 | COX6B1 | S43 | Human | Liver | Cirrhotic | 3.48e-41 | -9.14e-01 | -0.0187 |
| 1340 | COX6B1 | S44 | Human | Liver | HCC | 1.03e-03 | -5.49e-01 | -0.0083 |
| 1340 | COX6B1 | HCC1_Meng | Human | Liver | HCC | 6.57e-30 | 3.09e-01 | 0.0246 |
| 1340 | COX6B1 | HCC2_Meng | Human | Liver | HCC | 2.51e-34 | 4.02e-02 | 0.0107 |
| 1340 | COX6B1 | cirrhotic1 | Human | Liver | Cirrhotic | 1.04e-28 | 3.21e-01 | 0.0202 |
| 1340 | COX6B1 | cirrhotic2 | Human | Liver | Cirrhotic | 4.01e-28 | 4.00e-01 | 0.0201 |
| 1340 | COX6B1 | cirrhotic3 | Human | Liver | Cirrhotic | 1.31e-21 | 3.98e-01 | 0.0215 |
| 1340 | COX6B1 | p6 | Human | Liver | Cyst | 6.84e-09 | -7.14e-01 | -0.0218 |
| 1340 | COX6B1 | HCC1 | Human | Liver | HCC | 5.28e-25 | 6.05e+00 | 0.5336 |
| 1340 | COX6B1 | HCC2 | Human | Liver | HCC | 1.67e-23 | 5.98e+00 | 0.5341 |
| 1340 | COX6B1 | HCC5 | Human | Liver | HCC | 2.82e-09 | 1.94e+00 | 0.4932 |
| 1340 | COX6B1 | Pt13.a | Human | Liver | HCC | 2.41e-16 | 1.89e-01 | 0.021 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
| 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 | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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:00229008 | Breast | Precancer | electron transport chain | 42/1080 | 175/18723 | 1.37e-15 | 4.59e-13 | 42 |
| GO:19026008 | Breast | Precancer | proton transmembrane transport | 39/1080 | 157/18723 | 4.18e-15 | 1.18e-12 | 39 |
| GO:00217629 | Breast | Precancer | substantia nigra development | 15/1080 | 44/18723 | 1.12e-08 | 7.98e-07 | 15 |
| GO:00309018 | Breast | Precancer | midbrain development | 20/1080 | 90/18723 | 1.50e-07 | 7.93e-06 | 20 |
| GO:00488578 | Breast | Precancer | neural nucleus development | 16/1080 | 64/18723 | 4.76e-07 | 2.11e-05 | 16 |
| 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: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:190260012 | Breast | IDC | proton transmembrane transport | 40/1434 | 157/18723 | 7.34e-12 | 1.34e-09 | 40 |
| GO:002176214 | Breast | IDC | substantia nigra development | 18/1434 | 44/18723 | 1.11e-09 | 1.07e-07 | 18 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 |
| 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 |
| hsa0426016 | Breast | Precancer | Cardiac muscle contraction | 22/684 | 87/8465 | 9.72e-07 | 1.62e-05 | 1.24e-05 | 22 |
| 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 23 24 25 26 27 28 29 30 31 32 33 34 35 |
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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 |
| COX6B1 | SNV | Missense_Mutation | rs754817336 | c.229C>T | p.Arg77Trp | p.R77W | P14854 | protein_coding | deleterious(0.04) | probably_damaging(0.912) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| COX6B1 | SNV | Missense_Mutation | rs536033992 | c.5N>T | p.Ala2Val | p.A2V | P14854 | protein_coding | tolerated(0.19) | benign(0.067) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| COX6B1 | SNV | Missense_Mutation | novel | c.35N>G | p.Tyr12Cys | p.Y12C | P14854 | protein_coding | deleterious(0.02) | probably_damaging(0.935) | TCGA-DD-AAE7-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| COX6B1 | SNV | Missense_Mutation | c.22A>G | p.Lys8Glu | p.K8E | P14854 | protein_coding | tolerated(0.06) | possibly_damaging(0.848) | TCGA-MI-A75I-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD | |
| COX6B1 | SNV | Missense_Mutation | rs758173262 | c.175C>T | p.Arg59Cys | p.R59C | P14854 | protein_coding | tolerated(0.07) | benign(0.08) | TCGA-44-2659-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Chemotherapy | alimta | PD |
| COX6B1 | SNV | Missense_Mutation | c.206N>T | p.Trp69Leu | p.W69L | P14854 | protein_coding | deleterious(0.01) | probably_damaging(0.993) | TCGA-43-6143-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Other, specify in notesVaccine | recmage3-as+as15 | SD | |
| COX6B1 | SNV | Missense_Mutation | c.209N>C | p.Val70Ala | p.V70A | P14854 | protein_coding | deleterious(0.03) | possibly_damaging(0.511) | TCGA-HF-7132-01 | Stomach | stomach adenocarcinoma | Male | Unknown | I/II | Chemotherapy | fluorouracil | SD |
| Page: 1 |
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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 |
| Page: 1 |
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