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Gene: UQCRFS1 |
Gene summary for UQCRFS1 |
 Gene summary. |
| 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 |
| 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 |
| 7386 | UQCRFS1 | P2_cSCC | Human | Skin | cSCC | 1.38e-40 | 1.28e+00 | -0.024 |
| 7386 | UQCRFS1 | P4_cSCC | Human | Skin | cSCC | 2.60e-59 | 1.75e+00 | -0.00290000000000005 |
| 7386 | UQCRFS1 | P10_cSCC | Human | Skin | cSCC | 9.21e-45 | 1.73e+00 | 0.1017 |
| 7386 | UQCRFS1 | cSCC_p1 | Human | Skin | cSCC | 2.03e-05 | 2.90e-01 | -0.1916 |
| 7386 | UQCRFS1 | cSCC_p10 | Human | Skin | cSCC | 2.32e-02 | 2.59e-01 | -0.2095 |
| 7386 | UQCRFS1 | cSCC_p4 | Human | Skin | cSCC | 5.35e-03 | 1.13e-01 | -0.2022 |
| 7386 | UQCRFS1 | cSCC_p8 | Human | Skin | cSCC | 1.88e-10 | 2.30e-01 | -0.1971 |
| 7386 | UQCRFS1 | cSCC_p9 | Human | Skin | cSCC | 1.52e-09 | 2.30e-01 | -0.1991 |
| 7386 | UQCRFS1 | male-WTA | Human | Thyroid | PTC | 1.45e-22 | 7.68e-02 | 0.1037 |
| 7386 | UQCRFS1 | PTC01 | Human | Thyroid | PTC | 3.42e-14 | 3.74e-01 | 0.1899 |
| 7386 | UQCRFS1 | PTC04 | Human | Thyroid | PTC | 1.00e-03 | 2.55e-01 | 0.1927 |
| 7386 | UQCRFS1 | PTC05 | Human | Thyroid | PTC | 5.62e-21 | 6.87e-01 | 0.2065 |
| 7386 | UQCRFS1 | PTC06 | Human | Thyroid | PTC | 5.92e-33 | 9.17e-01 | 0.2057 |
| 7386 | UQCRFS1 | PTC07 | Human | Thyroid | PTC | 3.70e-36 | 6.45e-01 | 0.2044 |
| 7386 | UQCRFS1 | ATC08 | Human | Thyroid | ATC | 8.86e-05 | 1.10e-01 | 0.0541 |
| 7386 | UQCRFS1 | ATC11 | Human | Thyroid | ATC | 3.59e-05 | 7.89e-01 | 0.3386 |
| 7386 | UQCRFS1 | ATC12 | Human | Thyroid | ATC | 3.85e-12 | 3.04e-01 | 0.34 |
| 7386 | UQCRFS1 | ATC13 | Human | Thyroid | ATC | 8.85e-17 | 6.10e-01 | 0.34 |
| 7386 | UQCRFS1 | ATC2 | Human | Thyroid | ATC | 2.53e-18 | 1.98e+00 | 0.34 |
| 7386 | UQCRFS1 | ATC3 | Human | Thyroid | ATC | 8.24e-09 | 6.01e-01 | 0.338 |
| Page: 1 2 3 4 5 6 7 8 9 10 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| 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: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 |
| Page: 1 2 3 4 5 6 |
| Enriched KEGG pathways. |
| 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 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
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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 |
| 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 |
| Page: 1 2 3 4 |
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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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