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Gene: UQCC2 |
Gene summary for UQCC2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | UQCC2 | Gene ID | 84300 |
Gene name | ubiquinol-cytochrome c reductase complex assembly factor 2 | |
Gene Alias | C6orf125 | |
Cytomap | 6p21.31 | |
Gene Type | protein-coding | GO ID | GO:0002082 | UniProtAcc | Q9BRT2 |
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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 |
84300 | UQCC2 | GSM4909281 | Human | Breast | IDC | 4.08e-14 | 5.32e-01 | 0.21 |
84300 | UQCC2 | GSM4909286 | Human | Breast | IDC | 6.38e-05 | 9.32e-02 | 0.1081 |
84300 | UQCC2 | GSM4909288 | Human | Breast | IDC | 4.37e-02 | 1.76e-01 | 0.0988 |
84300 | UQCC2 | GSM4909290 | Human | Breast | IDC | 7.52e-04 | 3.15e-01 | 0.2096 |
84300 | UQCC2 | GSM4909293 | Human | Breast | IDC | 1.11e-27 | 6.67e-01 | 0.1581 |
84300 | UQCC2 | GSM4909294 | Human | Breast | IDC | 1.61e-05 | 3.90e-01 | 0.2022 |
84300 | UQCC2 | GSM4909296 | Human | Breast | IDC | 2.15e-04 | 6.00e-02 | 0.1524 |
84300 | UQCC2 | GSM4909297 | Human | Breast | IDC | 7.24e-05 | 6.35e-02 | 0.1517 |
84300 | UQCC2 | GSM4909298 | Human | Breast | IDC | 3.93e-02 | 6.24e-02 | 0.1551 |
84300 | UQCC2 | GSM4909301 | Human | Breast | IDC | 4.28e-04 | 3.74e-01 | 0.1577 |
84300 | UQCC2 | GSM4909308 | Human | Breast | IDC | 8.64e-08 | 3.59e-01 | 0.158 |
84300 | UQCC2 | GSM4909311 | Human | Breast | IDC | 1.16e-22 | -5.78e-03 | 0.1534 |
84300 | UQCC2 | GSM4909312 | Human | Breast | IDC | 5.20e-04 | 8.63e-02 | 0.1552 |
84300 | UQCC2 | GSM4909315 | Human | Breast | IDC | 2.48e-07 | 4.69e-01 | 0.21 |
84300 | UQCC2 | GSM4909316 | Human | Breast | IDC | 8.40e-10 | 5.86e-01 | 0.21 |
84300 | UQCC2 | GSM4909319 | Human | Breast | IDC | 5.69e-31 | -1.56e-02 | 0.1563 |
84300 | UQCC2 | GSM4909320 | Human | Breast | IDC | 1.10e-04 | 1.04e-01 | 0.1575 |
84300 | UQCC2 | GSM4909321 | Human | Breast | IDC | 3.61e-06 | 3.05e-03 | 0.1559 |
84300 | UQCC2 | brca2 | Human | Breast | Precancer | 7.48e-03 | 2.10e-01 | -0.024 |
84300 | UQCC2 | NCCBC11 | Human | Breast | DCIS | 6.40e-03 | 2.72e-01 | 0.1232 |
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Transcriptomic changes along malignancy continuum. |
∗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:00716925 | Stomach | GC | protein localization to extracellular region | 43/1159 | 368/18723 | 4.61e-05 | 1.11e-03 | 43 |
GO:00093065 | Stomach | GC | protein secretion | 42/1159 | 359/18723 | 5.46e-05 | 1.29e-03 | 42 |
GO:00355925 | Stomach | GC | establishment of protein localization to extracellular region | 42/1159 | 360/18723 | 5.82e-05 | 1.34e-03 | 42 |
GO:00507085 | Stomach | GC | regulation of protein secretion | 33/1159 | 268/18723 | 1.27e-04 | 2.40e-03 | 33 |
GO:00434675 | Stomach | GC | regulation of generation of precursor metabolites and energy | 20/1159 | 130/18723 | 1.43e-04 | 2.64e-03 | 20 |
GO:00158335 | Stomach | GC | peptide transport | 32/1159 | 264/18723 | 2.13e-04 | 3.61e-03 | 32 |
GO:19035786 | Stomach | GC | regulation of ATP metabolic process | 15/1159 | 87/18723 | 2.68e-04 | 4.42e-03 | 15 |
GO:00428863 | Stomach | GC | amide transport | 34/1159 | 301/18723 | 5.16e-04 | 7.28e-03 | 34 |
GO:00300735 | Stomach | GC | insulin secretion | 24/1159 | 195/18723 | 1.01e-03 | 1.20e-02 | 24 |
GO:19037153 | Stomach | GC | regulation of aerobic respiration | 7/1159 | 33/18723 | 3.53e-03 | 3.02e-02 | 7 |
GO:00064176 | Stomach | GC | regulation of translation | 44/1159 | 468/18723 | 3.81e-03 | 3.22e-02 | 44 |
GO:00027903 | Stomach | GC | peptide secretion | 26/1159 | 242/18723 | 4.39e-03 | 3.60e-02 | 26 |
GO:00300723 | Stomach | GC | peptide hormone secretion | 25/1159 | 236/18723 | 6.15e-03 | 4.64e-02 | 25 |
GO:00507965 | Stomach | GC | regulation of insulin secretion | 19/1159 | 165/18723 | 6.67e-03 | 4.86e-02 | 19 |
GO:004603411 | Stomach | CAG with IM | ATP metabolic process | 72/1050 | 277/18723 | 6.46e-29 | 1.72e-25 | 72 |
GO:000611911 | Stomach | CAG with IM | oxidative phosphorylation | 46/1050 | 141/18723 | 2.12e-23 | 3.76e-20 | 46 |
GO:000609111 | Stomach | CAG with IM | generation of precursor metabolites and energy | 86/1050 | 490/18723 | 1.45e-21 | 1.93e-18 | 86 |
GO:000906011 | Stomach | CAG with IM | aerobic respiration | 49/1050 | 189/18723 | 5.39e-20 | 5.75e-17 | 49 |
GO:004533311 | Stomach | CAG with IM | cellular respiration | 54/1050 | 230/18723 | 9.39e-20 | 8.34e-17 | 54 |
GO:001598011 | Stomach | CAG with IM | energy derivation by oxidation of organic compounds | 64/1050 | 318/18723 | 1.96e-19 | 1.49e-16 | 64 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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. |
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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 |
UQCC2 | SNV | Missense_Mutation | c.103G>T | p.Val35Leu | p.V35L | Q9BRT2 | protein_coding | deleterious(0.03) | probably_damaging(0.99) | TCGA-A2-A25D-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD | |
UQCC2 | SNV | Missense_Mutation | rs531733294 | c.182N>T | p.Ala61Val | p.A61V | Q9BRT2 | protein_coding | tolerated(0.37) | benign(0.104) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UQCC2 | SNV | Missense_Mutation | c.221N>A | p.Arg74His | p.R74H | Q9BRT2 | protein_coding | tolerated(0.05) | benign(0.061) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
UQCC2 | SNV | Missense_Mutation | novel | c.200N>G | p.Tyr67Cys | p.Y67C | Q9BRT2 | protein_coding | deleterious(0.01) | probably_damaging(0.964) | TCGA-AG-A00Y-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
UQCC2 | SNV | Missense_Mutation | novel | c.173N>G | p.Glu58Gly | p.E58G | Q9BRT2 | protein_coding | deleterious(0.01) | benign(0.053) | TCGA-AG-A02X-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
UQCC2 | SNV | Missense_Mutation | c.199N>G | p.Tyr67Asp | p.Y67D | Q9BRT2 | protein_coding | deleterious(0.01) | possibly_damaging(0.899) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
UQCC2 | SNV | Missense_Mutation | novel | c.232A>G | p.Thr78Ala | p.T78A | Q9BRT2 | protein_coding | deleterious(0) | probably_damaging(0.911) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
UQCC2 | SNV | Missense_Mutation | c.60N>C | p.Glu20Asp | p.E20D | Q9BRT2 | protein_coding | tolerated(0.24) | benign(0.275) | TCGA-55-A48Y-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | CR | |
UQCC2 | SNV | Missense_Mutation | novel | c.255G>T | p.Leu85Phe | p.L85F | Q9BRT2 | protein_coding | deleterious(0.04) | benign(0.203) | TCGA-CN-6010-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
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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 |
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