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Gene: UQCRC1 |
Gene summary for UQCRC1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | UQCRC1 | Gene ID | 7384 |
Gene name | ubiquinol-cytochrome c reductase core protein 1 | |
Gene Alias | D3S3191 | |
Cytomap | 3p21.31 | |
Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | P31930 |
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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 |
7384 | UQCRC1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.08e-12 | 4.45e-01 | 0.0155 |
7384 | UQCRC1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 6.69e-37 | 1.19e+00 | -0.1808 |
7384 | UQCRC1 | HTA11_2951_2000001011 | Human | Colorectum | AD | 2.35e-06 | 6.58e-01 | 0.0216 |
7384 | UQCRC1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.92e-25 | 1.10e+00 | -0.0811 |
7384 | UQCRC1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.37e-18 | 8.18e-01 | -0.1088 |
7384 | UQCRC1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.28e-60 | 1.38e+00 | -0.1954 |
7384 | UQCRC1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.17e-13 | 1.56e+00 | -0.2602 |
7384 | UQCRC1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 5.27e-11 | 1.34e+00 | -0.2196 |
7384 | UQCRC1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 5.05e-26 | 1.02e+00 | -0.1207 |
7384 | UQCRC1 | HTA11_83_2000001011 | Human | Colorectum | SER | 6.07e-34 | 1.39e+00 | -0.1526 |
7384 | UQCRC1 | HTA11_696_2000001011 | Human | Colorectum | AD | 2.24e-67 | 1.44e+00 | -0.1464 |
7384 | UQCRC1 | HTA11_866_2000001011 | Human | Colorectum | AD | 3.01e-47 | 1.01e+00 | -0.1001 |
7384 | UQCRC1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.45e-42 | 1.41e+00 | -0.059 |
7384 | UQCRC1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.26e-12 | 1.17e+00 | -0.1706 |
7384 | UQCRC1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 3.34e-20 | 1.33e+00 | -0.2061 |
7384 | UQCRC1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 3.26e-13 | 1.22e+00 | -0.1462 |
7384 | UQCRC1 | HTA11_546_2000001011 | Human | Colorectum | AD | 4.89e-17 | 1.07e+00 | -0.0842 |
7384 | UQCRC1 | HTA11_9341_2000001011 | Human | Colorectum | SER | 2.45e-08 | 8.74e-01 | -0.00410000000000005 |
7384 | UQCRC1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 6.29e-17 | 8.66e-01 | -0.0179 |
7384 | UQCRC1 | HTA11_866_3004761011 | Human | Colorectum | AD | 7.86e-26 | 7.87e-01 | 0.096 |
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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:0046034 | Colorectum | AD | ATP metabolic process | 142/3918 | 277/18723 | 2.64e-29 | 8.26e-26 | 142 |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0009060 | Colorectum | AD | aerobic respiration | 108/3918 | 189/18723 | 9.14e-28 | 1.43e-24 | 108 |
GO:0045333 | Colorectum | AD | cellular respiration | 119/3918 | 230/18723 | 3.21e-25 | 4.02e-22 | 119 |
GO:0006119 | Colorectum | AD | oxidative phosphorylation | 83/3918 | 141/18723 | 7.95e-23 | 8.30e-20 | 83 |
GO:0015980 | Colorectum | AD | energy derivation by oxidation of organic compounds | 143/3918 | 318/18723 | 2.78e-22 | 2.49e-19 | 143 |
GO:0022900 | Colorectum | AD | electron transport chain | 89/3918 | 175/18723 | 1.42e-18 | 8.91e-16 | 89 |
GO:0019646 | Colorectum | AD | aerobic electron transport chain | 53/3918 | 87/18723 | 5.58e-16 | 2.16e-13 | 53 |
GO:0042773 | Colorectum | AD | ATP synthesis coupled electron transport | 56/3918 | 95/18723 | 6.76e-16 | 2.22e-13 | 56 |
GO:0042775 | Colorectum | AD | mitochondrial ATP synthesis coupled electron transport | 56/3918 | 95/18723 | 6.76e-16 | 2.22e-13 | 56 |
GO:0022904 | Colorectum | AD | respiratory electron transport chain | 63/3918 | 114/18723 | 8.23e-16 | 2.45e-13 | 63 |
GO:1902600 | Colorectum | AD | proton transmembrane transport | 66/3918 | 157/18723 | 1.59e-09 | 1.17e-07 | 66 |
GO:0006122 | Colorectum | AD | mitochondrial electron transport, ubiquinol to cytochrome c | 8/3918 | 11/18723 | 3.26e-04 | 3.85e-03 | 8 |
GO:00090601 | Colorectum | SER | aerobic respiration | 96/2897 | 189/18723 | 5.53e-30 | 1.70e-26 | 96 |
GO:00460341 | Colorectum | SER | ATP metabolic process | 117/2897 | 277/18723 | 5.54e-27 | 1.13e-23 | 117 |
GO:00453331 | Colorectum | SER | cellular respiration | 103/2897 | 230/18723 | 2.35e-26 | 3.61e-23 | 103 |
GO:00060911 | Colorectum | SER | generation of precursor metabolites and energy | 168/2897 | 490/18723 | 1.39e-25 | 1.70e-22 | 168 |
GO:00061191 | Colorectum | SER | oxidative phosphorylation | 75/2897 | 141/18723 | 2.35e-25 | 2.40e-22 | 75 |
GO:00159801 | Colorectum | SER | energy derivation by oxidation of organic compounds | 119/2897 | 318/18723 | 5.28e-22 | 4.62e-19 | 119 |
GO:00229001 | Colorectum | SER | electron transport chain | 77/2897 | 175/18723 | 1.77e-19 | 1.36e-16 | 77 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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 |
hsa0493252 | Liver | HCC | Non-alcoholic fatty liver disease | 124/4020 | 155/8465 | 4.54e-17 | 2.54e-15 | 1.41e-15 | 124 |
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 |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0493228 | Oral cavity | OSCC | Non-alcoholic fatty liver disease | 124/3704 | 155/8465 | 1.22e-20 | 1.37e-18 | 6.96e-19 | 124 |
hsa0501230 | Oral cavity | OSCC | Parkinson disease | 188/3704 | 266/8465 | 1.82e-19 | 1.52e-17 | 7.75e-18 | 188 |
hsa0501628 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
hsa0501028 | Oral cavity | OSCC | Alzheimer disease | 244/3704 | 384/8465 | 1.18e-15 | 3.60e-14 | 1.83e-14 | 244 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
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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 |
UQCRC1 | SNV | Missense_Mutation | c.688G>C | p.Val230Leu | p.V230L | P31930 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A8-A07O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | CR | ||
UQCRC1 | SNV | Missense_Mutation | c.1235N>G | p.Asp412Gly | p.D412G | P31930 | protein_coding | deleterious(0) | possibly_damaging(0.592) | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
UQCRC1 | deletion | In_Frame_Del | novel | c.755_775delNNNNNNNNNNNNNNNNNNNNN | p.Gly252_Ala258del | p.G252_A258del | P31930 | protein_coding | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | |||
UQCRC1 | deletion | Frame_Shift_Del | novel | c.931_938delATCGGCCA | p.Ile311LeufsTer2 | p.I311Lfs*2 | P31930 | protein_coding | TCGA-AC-A3HN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
UQCRC1 | insertion | Frame_Shift_Ins | novel | c.838_839insCACACTT | p.Asp280AlafsTer38 | p.D280Afs*38 | P31930 | protein_coding | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | ||
UQCRC1 | SNV | Missense_Mutation | c.1435N>T | p.Arg479Cys | p.R479C | P31930 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
UQCRC1 | SNV | Missense_Mutation | c.244N>A | p.Glu82Lys | p.E82K | P31930 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AA-A01S-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
UQCRC1 | SNV | Missense_Mutation | c.537N>A | p.Met179Ile | p.M179I | P31930 | protein_coding | tolerated(0.08) | benign(0.037) | TCGA-AA-A02R-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
UQCRC1 | SNV | Missense_Mutation | c.133N>A | p.Val45Met | p.V45M | P31930 | protein_coding | tolerated(0.14) | benign(0.099) | TCGA-AZ-6599-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
UQCRC1 | SNV | Missense_Mutation | rs376087580 | c.1244G>A | p.Arg415His | p.R415H | P31930 | protein_coding | deleterious(0) | possibly_damaging(0.879) | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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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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