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Gene: COX4I2 |
Gene summary for COX4I2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | COX4I2 | Gene ID | 84701 |
| Gene name | cytochrome c oxidase subunit 4I2 | |
| Gene Alias | COX4 | |
| Cytomap | 20q11.21 | |
| Gene Type | protein-coding | GO ID | GO:0001666 | UniProtAcc | H6SG14 |
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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 |
| 84701 | COX4I2 | Pt13.a | Human | Liver | HCC | 1.13e-08 | 3.64e-01 | 0.021 |
| 84701 | COX4I2 | Pt13.b | Human | Liver | HCC | 8.37e-30 | 7.20e-01 | 0.0251 |
| 84701 | COX4I2 | Pt14.b | Human | Liver | HCC | 2.74e-02 | 3.25e-01 | 0.018 |
| 84701 | COX4I2 | S015 | Human | Liver | HCC | 3.88e-04 | 1.01e+00 | 0.2375 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
| GO:000906012 | Liver | HCC | aerobic respiration | 147/7958 | 189/18723 | 3.13e-23 | 6.61e-21 | 147 |
| GO:004533312 | Liver | HCC | cellular respiration | 171/7958 | 230/18723 | 6.35e-23 | 1.26e-20 | 171 |
| GO:004603422 | Liver | HCC | ATP metabolic process | 198/7958 | 277/18723 | 8.30e-23 | 1.55e-20 | 198 |
| GO:001598022 | Liver | HCC | energy derivation by oxidation of organic compounds | 221/7958 | 318/18723 | 1.02e-22 | 1.86e-20 | 221 |
| GO:002290022 | Liver | HCC | electron transport chain | 134/7958 | 175/18723 | 3.32e-20 | 4.68e-18 | 134 |
| GO:000611912 | Liver | HCC | oxidative phosphorylation | 110/7958 | 141/18723 | 6.58e-18 | 7.45e-16 | 110 |
| GO:002290412 | Liver | HCC | respiratory electron transport chain | 89/7958 | 114/18723 | 8.68e-15 | 5.73e-13 | 89 |
| GO:004277312 | Liver | HCC | ATP synthesis coupled electron transport | 74/7958 | 95/18723 | 1.94e-12 | 9.18e-11 | 74 |
| GO:004277512 | Liver | HCC | mitochondrial ATP synthesis coupled electron transport | 74/7958 | 95/18723 | 1.94e-12 | 9.18e-11 | 74 |
| GO:001964612 | Liver | HCC | aerobic electron transport chain | 67/7958 | 87/18723 | 5.43e-11 | 2.00e-09 | 67 |
| GO:000166612 | Liver | HCC | response to hypoxia | 172/7958 | 307/18723 | 1.06e-06 | 1.59e-05 | 172 |
| GO:003629312 | Liver | HCC | response to decreased oxygen levels | 179/7958 | 322/18723 | 1.29e-06 | 1.87e-05 | 179 |
| GO:007048212 | Liver | HCC | response to oxygen levels | 191/7958 | 347/18723 | 1.42e-06 | 2.03e-05 | 191 |
| GO:007145311 | Liver | HCC | cellular response to oxygen levels | 98/7958 | 177/18723 | 3.63e-04 | 2.52e-03 | 98 |
| GO:003629411 | Liver | HCC | cellular response to decreased oxygen levels | 90/7958 | 161/18723 | 4.03e-04 | 2.72e-03 | 90 |
| GO:19026007 | Liver | HCC | proton transmembrane transport | 87/7958 | 157/18723 | 7.27e-04 | 4.42e-03 | 87 |
| GO:007145611 | Liver | HCC | cellular response to hypoxia | 84/7958 | 151/18723 | 7.57e-04 | 4.56e-03 | 84 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| 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 |
| hsa0502022 | Liver | HCC | Prion disease | 195/4020 | 273/8465 | 3.26e-16 | 1.56e-14 | 8.67e-15 | 195 |
| hsa0471422 | Liver | HCC | Thermogenesis | 170/4020 | 232/8465 | 5.36e-16 | 2.25e-14 | 1.25e-14 | 170 |
| hsa0541522 | Liver | HCC | Diabetic cardiomyopathy | 151/4020 | 203/8465 | 2.72e-15 | 1.01e-13 | 5.63e-14 | 151 |
| hsa0501022 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
| hsa0019022 | Liver | HCC | Oxidative phosphorylation | 103/4020 | 134/8465 | 2.39e-12 | 5.01e-11 | 2.79e-11 | 103 |
| hsa0502222 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
| hsa0501232 | Liver | HCC | Parkinson disease | 198/4020 | 266/8465 | 9.40e-20 | 1.58e-17 | 8.76e-18 | 198 |
| 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 |
| 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 |
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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. |
| 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 |
| COX4I2 | SNV | Missense_Mutation | c.239A>G | p.Lys80Arg | p.K80R | Q96KJ9 | protein_coding | deleterious(0) | possibly_damaging(0.776) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| COX4I2 | SNV | Missense_Mutation | rs781340542 | c.481N>T | p.Arg161Cys | p.R161C | Q96KJ9 | protein_coding | deleterious(0.01) | benign(0.438) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
| COX4I2 | SNV | Missense_Mutation | c.23N>A | p.Ser8Asn | p.S8N | Q96KJ9 | protein_coding | tolerated(0.08) | benign(0.001) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| COX4I2 | SNV | Missense_Mutation | c.437N>A | p.Arg146His | p.R146H | Q96KJ9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| COX4I2 | SNV | Missense_Mutation | rs752734271 | c.346G>A | p.Ala116Thr | p.A116T | Q96KJ9 | protein_coding | tolerated(1) | benign(0) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| COX4I2 | SNV | Missense_Mutation | c.461C>A | p.Pro154His | p.P154H | Q96KJ9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EI-6507-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| COX4I2 | SNV | Missense_Mutation | rs373809337 | c.293G>A | p.Arg98His | p.R98H | Q96KJ9 | protein_coding | tolerated(0.14) | benign(0.029) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| COX4I2 | SNV | Missense_Mutation | novel | c.250N>C | p.Tyr84His | p.Y84H | Q96KJ9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
| COX4I2 | SNV | Missense_Mutation | novel | c.282G>T | p.Glu94Asp | p.E94D | Q96KJ9 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| COX4I2 | SNV | Missense_Mutation | rs759933027 | c.235G>A | p.Glu79Lys | p.E79K | Q96KJ9 | protein_coding | deleterious(0) | possibly_damaging(0.695) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
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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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