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Gene: UQCRFS1 |
Gene summary for UQCRFS1 |
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Gene information | Species | Human | Gene symbol | UQCRFS1 | Gene ID | 7386 |
Gene name | ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | |
Gene Alias | MC3DN10 | |
Cytomap | 19q12 | |
Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | P47985 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7386 | UQCRFS1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.56e-03 | 2.84e-01 | -0.1808 |
7386 | UQCRFS1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.60e-02 | 3.03e-01 | -0.0811 |
7386 | UQCRFS1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.08e-06 | 3.67e-01 | -0.1088 |
7386 | UQCRFS1 | HTA11_347_2000001011 | Human | Colorectum | AD | 6.67e-30 | 7.47e-01 | -0.1954 |
7386 | UQCRFS1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 2.59e-02 | 4.91e-01 | -0.2196 |
7386 | UQCRFS1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 7.62e-03 | 2.71e-01 | -0.1207 |
7386 | UQCRFS1 | HTA11_83_2000001011 | Human | Colorectum | SER | 4.41e-08 | 5.38e-01 | -0.1526 |
7386 | UQCRFS1 | HTA11_696_2000001011 | Human | Colorectum | AD | 4.54e-15 | 4.62e-01 | -0.1464 |
7386 | UQCRFS1 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.88e-05 | 2.83e-01 | -0.1001 |
7386 | UQCRFS1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.64e-13 | 5.88e-01 | -0.059 |
7386 | UQCRFS1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 3.02e-04 | 5.23e-01 | -0.1706 |
7386 | UQCRFS1 | HTA11_546_2000001011 | Human | Colorectum | AD | 5.57e-07 | 4.00e-01 | -0.0842 |
7386 | UQCRFS1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.37e-04 | 3.94e-01 | -0.0179 |
7386 | UQCRFS1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.32e-07 | 3.72e-01 | 0.096 |
7386 | UQCRFS1 | HTA11_4255_2000001011 | Human | Colorectum | SER | 3.68e-04 | 6.18e-01 | 0.0446 |
7386 | UQCRFS1 | HTA11_7663_2000001011 | Human | Colorectum | SER | 1.86e-04 | 6.80e-01 | 0.0131 |
7386 | UQCRFS1 | HTA11_10623_2000001011 | Human | Colorectum | AD | 1.19e-11 | 6.00e-01 | -0.0177 |
7386 | UQCRFS1 | HTA11_6801_2000001011 | Human | Colorectum | SER | 6.81e-18 | 1.32e+00 | 0.0171 |
7386 | UQCRFS1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.18e-04 | 3.42e-01 | 0.0338 |
7386 | UQCRFS1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.67e-21 | 6.46e-01 | 0.0674 |
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∗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 |
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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 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0045333 | Colorectum | AD | cellular respiration | 119/3918 | 230/18723 | 3.21e-25 | 4.02e-22 | 119 |
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:0022904 | Colorectum | AD | respiratory electron transport chain | 63/3918 | 114/18723 | 8.23e-16 | 2.45e-13 | 63 |
GO:0033108 | Colorectum | AD | mitochondrial respiratory chain complex assembly | 46/3918 | 93/18723 | 8.95e-10 | 6.91e-08 | 46 |
GO:1902600 | Colorectum | AD | proton transmembrane transport | 66/3918 | 157/18723 | 1.59e-09 | 1.17e-07 | 66 |
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: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 |
GO:00229041 | Colorectum | SER | respiratory electron transport chain | 56/2897 | 114/18723 | 3.34e-17 | 1.71e-14 | 56 |
GO:19026001 | Colorectum | SER | proton transmembrane transport | 60/2897 | 157/18723 | 3.12e-12 | 7.08e-10 | 60 |
GO:00331081 | Colorectum | SER | mitochondrial respiratory chain complex assembly | 39/2897 | 93/18723 | 8.13e-10 | 8.74e-08 | 39 |
GO:00060912 | Colorectum | MSS | generation of precursor metabolites and energy | 186/3467 | 490/18723 | 1.14e-24 | 2.15e-21 | 186 |
GO:00453332 | Colorectum | MSS | cellular respiration | 107/3467 | 230/18723 | 1.64e-22 | 2.05e-19 | 107 |
GO:00159802 | Colorectum | MSS | energy derivation by oxidation of organic compounds | 131/3467 | 318/18723 | 2.60e-21 | 2.70e-18 | 131 |
GO:00229002 | Colorectum | MSS | electron transport chain | 83/3467 | 175/18723 | 2.06e-18 | 1.17e-15 | 83 |
GO:00229042 | Colorectum | MSS | respiratory electron transport chain | 61/3467 | 114/18723 | 4.46e-17 | 1.99e-14 | 61 |
GO:00331082 | Colorectum | MSS | mitochondrial respiratory chain complex assembly | 44/3467 | 93/18723 | 2.17e-10 | 2.09e-08 | 44 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05012 | Colorectum | AD | Parkinson disease | 147/2092 | 266/8465 | 2.53e-27 | 8.48e-25 | 5.41e-25 | 147 |
hsa05208 | Colorectum | AD | Chemical carcinogenesis - reactive oxygen species | 126/2092 | 223/8465 | 1.01e-24 | 1.68e-22 | 1.07e-22 | 126 |
hsa00190 | Colorectum | AD | Oxidative phosphorylation | 86/2092 | 134/8465 | 2.47e-22 | 2.76e-20 | 1.76e-20 | 86 |
hsa05415 | Colorectum | AD | Diabetic cardiomyopathy | 114/2092 | 203/8465 | 3.65e-22 | 3.06e-20 | 1.95e-20 | 114 |
hsa05010 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa05016 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
hsa04714 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa04932 | Colorectum | AD | Non-alcoholic fatty liver disease | 90/2092 | 155/8465 | 4.83e-19 | 1.80e-17 | 1.15e-17 | 90 |
hsa05020 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa05014 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa04260 | Colorectum | AD | Cardiac muscle contraction | 32/2092 | 87/8465 | 7.92e-03 | 3.13e-02 | 2.00e-02 | 32 |
hsa050121 | Colorectum | AD | Parkinson disease | 147/2092 | 266/8465 | 2.53e-27 | 8.48e-25 | 5.41e-25 | 147 |
hsa052081 | Colorectum | AD | Chemical carcinogenesis - reactive oxygen species | 126/2092 | 223/8465 | 1.01e-24 | 1.68e-22 | 1.07e-22 | 126 |
hsa001901 | Colorectum | AD | Oxidative phosphorylation | 86/2092 | 134/8465 | 2.47e-22 | 2.76e-20 | 1.76e-20 | 86 |
hsa054151 | Colorectum | AD | Diabetic cardiomyopathy | 114/2092 | 203/8465 | 3.65e-22 | 3.06e-20 | 1.95e-20 | 114 |
hsa050101 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050161 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
hsa047141 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa049321 | Colorectum | AD | Non-alcoholic fatty liver disease | 90/2092 | 155/8465 | 4.83e-19 | 1.80e-17 | 1.15e-17 | 90 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
UQCRFS1 | SNV | Missense_Mutation | novel | c.247N>G | p.Ile83Val | p.I83V | P47985 | protein_coding | tolerated(0.45) | benign(0.009) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
UQCRFS1 | SNV | Missense_Mutation | novel | c.536N>T | p.Arg179Ile | p.R179I | P47985 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UQCRFS1 | insertion | Nonsense_Mutation | novel | c.643_644insTGATGACACTTTGA | p.Gly215ValfsTer5 | p.G215Vfs*5 | P47985 | protein_coding | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD | ||
UQCRFS1 | SNV | Missense_Mutation | novel | c.247N>G | p.Ile83Val | p.I83V | P47985 | protein_coding | tolerated(0.45) | benign(0.009) | TCGA-EA-A1QS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
UQCRFS1 | SNV | Missense_Mutation | novel | c.324G>T | p.Glu108Asp | p.E108D | P47985 | protein_coding | tolerated(0.74) | benign(0) | TCGA-VS-A9UL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
UQCRFS1 | SNV | Missense_Mutation | rs201777347 | c.530N>A | p.Arg177His | p.R177H | P47985 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UQCRFS1 | SNV | Missense_Mutation | c.815T>C | p.Ile272Thr | p.I272T | P47985 | protein_coding | deleterious(0) | benign(0.022) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
UQCRFS1 | SNV | Missense_Mutation | c.457N>A | p.Glu153Lys | p.E153K | P47985 | protein_coding | deleterious(0) | possibly_damaging(0.833) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
UQCRFS1 | SNV | Missense_Mutation | novel | c.247N>G | p.Ile83Val | p.I83V | P47985 | protein_coding | tolerated(0.45) | benign(0.009) | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UQCRFS1 | SNV | Missense_Mutation | novel | c.805N>A | p.Asp269Asn | p.D269N | P47985 | protein_coding | tolerated(0.33) | benign(0.001) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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