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Gene: PARK7 |
Gene summary for PARK7 |
Gene summary. |
Gene information | Species | Human | Gene symbol | PARK7 | Gene ID | 11315 |
Gene name | Parkinsonism associated deglycase | |
Gene Alias | DJ-1 | |
Cytomap | 1p36.23 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q99497 |
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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 |
11315 | PARK7 | GSM4909280 | Human | Breast | Precancer | 8.34e-03 | -7.08e-01 | 0.0305 |
11315 | PARK7 | GSM4909282 | Human | Breast | IDC | 2.36e-03 | -1.76e-01 | -0.0288 |
11315 | PARK7 | GSM4909286 | Human | Breast | IDC | 4.14e-10 | -2.26e-01 | 0.1081 |
11315 | PARK7 | GSM4909288 | Human | Breast | IDC | 6.84e-08 | 1.83e-01 | 0.0988 |
11315 | PARK7 | GSM4909294 | Human | Breast | IDC | 1.80e-25 | 2.39e-01 | 0.2022 |
11315 | PARK7 | GSM4909296 | Human | Breast | IDC | 1.37e-22 | 1.21e-01 | 0.1524 |
11315 | PARK7 | GSM4909297 | Human | Breast | IDC | 2.54e-33 | -1.73e-01 | 0.1517 |
11315 | PARK7 | GSM4909301 | Human | Breast | IDC | 3.28e-02 | -5.28e-02 | 0.1577 |
11315 | PARK7 | GSM4909302 | Human | Breast | IDC | 9.26e-05 | 6.97e-02 | 0.1545 |
11315 | PARK7 | GSM4909306 | Human | Breast | IDC | 2.25e-09 | 3.74e-01 | 0.1564 |
11315 | PARK7 | GSM4909308 | Human | Breast | IDC | 2.07e-08 | 2.84e-01 | 0.158 |
11315 | PARK7 | GSM4909309 | Human | Breast | IDC | 1.85e-05 | -2.13e-02 | 0.0483 |
11315 | PARK7 | GSM4909311 | Human | Breast | IDC | 4.07e-67 | -6.99e-01 | 0.1534 |
11315 | PARK7 | GSM4909312 | Human | Breast | IDC | 1.30e-28 | -4.53e-01 | 0.1552 |
11315 | PARK7 | GSM4909313 | Human | Breast | IDC | 2.19e-02 | -1.80e-01 | 0.0391 |
11315 | PARK7 | GSM4909315 | Human | Breast | IDC | 4.09e-04 | 8.67e-02 | 0.21 |
11315 | PARK7 | GSM4909316 | Human | Breast | IDC | 4.23e-12 | 1.80e-01 | 0.21 |
11315 | PARK7 | GSM4909318 | Human | Breast | IDC | 1.42e-09 | 3.34e-01 | 0.2031 |
11315 | PARK7 | GSM4909319 | Human | Breast | IDC | 1.81e-78 | -5.18e-01 | 0.1563 |
11315 | PARK7 | GSM4909320 | Human | Breast | IDC | 2.30e-05 | -3.39e-01 | 0.1575 |
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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:00460349 | Breast | Precancer | ATP metabolic process | 82/1080 | 277/18723 | 1.94e-36 | 5.19e-33 | 82 |
GO:00061199 | Breast | Precancer | oxidative phosphorylation | 53/1080 | 141/18723 | 1.15e-29 | 2.04e-26 | 53 |
GO:00090608 | Breast | Precancer | aerobic respiration | 58/1080 | 189/18723 | 5.69e-27 | 7.62e-24 | 58 |
GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
GO:00453338 | Breast | Precancer | cellular respiration | 59/1080 | 230/18723 | 5.97e-23 | 5.32e-20 | 59 |
GO:00159808 | Breast | Precancer | energy derivation by oxidation of organic compounds | 70/1080 | 318/18723 | 8.33e-23 | 6.37e-20 | 70 |
GO:00196468 | Breast | Precancer | aerobic electron transport chain | 34/1080 | 87/18723 | 3.95e-20 | 2.64e-17 | 34 |
GO:00427738 | Breast | Precancer | ATP synthesis coupled electron transport | 35/1080 | 95/18723 | 1.08e-19 | 5.76e-17 | 35 |
GO:00427758 | Breast | Precancer | mitochondrial ATP synthesis coupled electron transport | 35/1080 | 95/18723 | 1.08e-19 | 5.76e-17 | 35 |
GO:00971939 | Breast | Precancer | intrinsic apoptotic signaling pathway | 59/1080 | 288/18723 | 8.07e-18 | 3.60e-15 | 59 |
GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:00229048 | Breast | Precancer | respiratory electron transport chain | 35/1080 | 114/18723 | 8.51e-17 | 3.26e-14 | 35 |
GO:20012429 | Breast | Precancer | regulation of intrinsic apoptotic signaling pathway | 41/1080 | 164/18723 | 6.48e-16 | 2.31e-13 | 41 |
GO:00229008 | Breast | Precancer | electron transport chain | 42/1080 | 175/18723 | 1.37e-15 | 4.59e-13 | 42 |
GO:19026008 | Breast | Precancer | proton transmembrane transport | 39/1080 | 157/18723 | 4.18e-15 | 1.18e-12 | 39 |
GO:00069799 | Breast | Precancer | response to oxidative stress | 70/1080 | 446/18723 | 1.59e-14 | 4.26e-12 | 70 |
GO:00525479 | Breast | Precancer | regulation of peptidase activity | 71/1080 | 461/18723 | 2.72e-14 | 6.94e-12 | 71 |
GO:00525489 | Breast | Precancer | regulation of endopeptidase activity | 67/1080 | 432/18723 | 1.06e-13 | 2.36e-11 | 67 |
GO:20001169 | Breast | Precancer | regulation of cysteine-type endopeptidase activity | 43/1080 | 235/18723 | 1.30e-11 | 1.83e-09 | 43 |
GO:00432819 | Breast | Precancer | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 40/1080 | 209/18723 | 1.59e-11 | 2.07e-09 | 40 |
Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501218 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0501219 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0501224 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0502223 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0501234 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0502233 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0501243 | Breast | DCIS | Parkinson disease | 106/846 | 266/8465 | 1.64e-39 | 5.29e-37 | 3.90e-37 | 106 |
hsa0502243 | Breast | DCIS | Pathways of neurodegeneration - multiple diseases | 114/846 | 476/8465 | 4.74e-20 | 1.53e-18 | 1.13e-18 | 114 |
hsa0501253 | Breast | DCIS | Parkinson disease | 106/846 | 266/8465 | 1.64e-39 | 5.29e-37 | 3.90e-37 | 106 |
hsa0502253 | Breast | DCIS | Pathways of neurodegeneration - multiple diseases | 114/846 | 476/8465 | 4.74e-20 | 1.53e-18 | 1.13e-18 | 114 |
hsa0501220 | Cervix | CC | Parkinson disease | 102/1267 | 266/8465 | 1.81e-21 | 1.47e-19 | 8.66e-20 | 102 |
hsa0502218 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa05012110 | Cervix | CC | Parkinson disease | 102/1267 | 266/8465 | 1.81e-21 | 1.47e-19 | 8.66e-20 | 102 |
hsa0502219 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa0501225 | Cervix | HSIL_HPV | Parkinson disease | 43/459 | 266/8465 | 6.69e-11 | 6.53e-09 | 5.28e-09 | 43 |
hsa0502224 | Cervix | HSIL_HPV | Pathways of neurodegeneration - multiple diseases | 46/459 | 476/8465 | 8.10e-05 | 1.08e-03 | 8.72e-04 | 46 |
hsa0501235 | Cervix | HSIL_HPV | Parkinson disease | 43/459 | 266/8465 | 6.69e-11 | 6.53e-09 | 5.28e-09 | 43 |
hsa0502234 | Cervix | HSIL_HPV | Pathways of neurodegeneration - multiple diseases | 46/459 | 476/8465 | 8.10e-05 | 1.08e-03 | 8.72e-04 | 46 |
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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 |
PARK7 | SNV | Missense_Mutation | novel | c.473C>A | p.Pro158His | p.P158H | Q99497 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PARK7 | SNV | Missense_Mutation | rs145727915 | c.143N>A | p.Arg48His | p.R48H | Q99497 | protein_coding | deleterious(0) | possibly_damaging(0.456) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
PARK7 | insertion | Frame_Shift_Ins | rs759703272 | c.182_183insA | p.Glu64ArgfsTer5 | p.E64Rfs*5 | Q99497 | protein_coding | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
PARK7 | SNV | Missense_Mutation | novel | c.254N>A | p.Ser85Tyr | p.S85Y | Q99497 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PARK7 | SNV | Missense_Mutation | rs758016497 | c.56C>T | p.Thr19Met | p.T19M | Q99497 | protein_coding | tolerated(0.17) | benign(0.44) | TCGA-B5-A11J-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PARK7 | SNV | Missense_Mutation | rs371514726 | c.494C>T | p.Ala165Val | p.A165V | Q99497 | protein_coding | deleterious(0.01) | benign(0.264) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PARK7 | SNV | Missense_Mutation | rs182164240 | c.292C>T | p.Arg98Trp | p.R98W | Q99497 | protein_coding | tolerated(0.06) | benign(0.022) | TCGA-BS-A0UA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PARK7 | SNV | Missense_Mutation | novel | c.412N>T | p.His138Tyr | p.H138Y | Q99497 | protein_coding | tolerated(0.24) | benign(0.013) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
PARK7 | SNV | Missense_Mutation | novel | c.355T>G | p.Phe119Val | p.F119V | Q99497 | protein_coding | tolerated(0.52) | benign(0.003) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
PARK7 | SNV | Missense_Mutation | rs768782230 | c.433N>T | p.Arg145Cys | p.R145C | Q99497 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | 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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