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Gene: PKD2 |
Gene summary for PKD2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PKD2 | Gene ID | 5311 |
| Gene name | polycystin 2, transient receptor potential cation channel | |
| Gene Alias | APKD2 | |
| Cytomap | 4q22.1 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q13563 |
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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 |
| 5311 | PKD2 | HTA12-32-1 | Human | Pancreas | PDAC | 1.46e-03 | 6.42e-01 | 0.3624 |
| 5311 | PKD2 | male-WTA | Human | Thyroid | PTC | 8.45e-27 | 1.87e-01 | 0.1037 |
| 5311 | PKD2 | PTC01 | Human | Thyroid | PTC | 6.35e-11 | 8.61e-02 | 0.1899 |
| 5311 | PKD2 | PTC04 | Human | Thyroid | PTC | 1.12e-12 | 1.13e-01 | 0.1927 |
| 5311 | PKD2 | PTC05 | Human | Thyroid | PTC | 6.10e-09 | 3.68e-01 | 0.2065 |
| 5311 | PKD2 | PTC06 | Human | Thyroid | PTC | 1.94e-15 | 3.15e-01 | 0.2057 |
| 5311 | PKD2 | PTC07 | Human | Thyroid | PTC | 2.01e-12 | 2.19e-01 | 0.2044 |
| 5311 | PKD2 | ATC09 | Human | Thyroid | ATC | 2.07e-05 | 2.47e-01 | 0.2871 |
| 5311 | PKD2 | ATC12 | Human | Thyroid | ATC | 1.34e-17 | 3.90e-01 | 0.34 |
| 5311 | PKD2 | ATC13 | Human | Thyroid | ATC | 5.84e-32 | 6.56e-01 | 0.34 |
| 5311 | PKD2 | ATC1 | Human | Thyroid | ATC | 9.61e-05 | 2.66e-01 | 0.2878 |
| 5311 | PKD2 | ATC2 | Human | Thyroid | ATC | 4.25e-03 | 4.78e-01 | 0.34 |
| 5311 | PKD2 | ATC3 | Human | Thyroid | ATC | 8.67e-03 | 4.81e-01 | 0.338 |
| 5311 | PKD2 | ATC4 | Human | Thyroid | ATC | 5.45e-23 | 4.98e-01 | 0.34 |
| 5311 | PKD2 | ATC5 | Human | Thyroid | ATC | 4.67e-30 | 7.25e-01 | 0.34 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| 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:000697912 | Liver | Cirrhotic | response to oxidative stress | 196/4634 | 446/18723 | 2.80e-19 | 5.86e-17 | 196 |
| GO:000188912 | Liver | Cirrhotic | liver development | 81/4634 | 147/18723 | 2.99e-15 | 3.35e-13 | 81 |
| GO:006100812 | Liver | Cirrhotic | hepaticobiliary system development | 82/4634 | 150/18723 | 3.72e-15 | 4.09e-13 | 82 |
| GO:006219712 | Liver | Cirrhotic | cellular response to chemical stress | 147/4634 | 337/18723 | 1.84e-14 | 1.72e-12 | 147 |
| GO:003459912 | Liver | Cirrhotic | cellular response to oxidative stress | 127/4634 | 288/18723 | 4.29e-13 | 3.32e-11 | 127 |
| GO:001003812 | Liver | Cirrhotic | response to metal ion | 150/4634 | 373/18723 | 2.27e-11 | 1.37e-09 | 150 |
| GO:000030212 | Liver | Cirrhotic | response to reactive oxygen species | 100/4634 | 222/18723 | 2.92e-11 | 1.73e-09 | 100 |
| GO:00346147 | Liver | Cirrhotic | cellular response to reactive oxygen species | 70/4634 | 155/18723 | 2.27e-08 | 7.91e-07 | 70 |
| GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
| GO:00451857 | Liver | Cirrhotic | maintenance of protein location | 46/4634 | 94/18723 | 3.31e-07 | 7.90e-06 | 46 |
| GO:004873212 | Liver | Cirrhotic | gland development | 154/4634 | 436/18723 | 4.03e-07 | 9.42e-06 | 154 |
| GO:005123511 | Liver | Cirrhotic | maintenance of location | 117/4634 | 327/18723 | 4.78e-06 | 7.86e-05 | 117 |
| GO:00073463 | Liver | Cirrhotic | regulation of mitotic cell cycle | 154/4634 | 457/18723 | 8.73e-06 | 1.29e-04 | 154 |
| GO:005159211 | Liver | Cirrhotic | response to calcium ion | 61/4634 | 149/18723 | 9.47e-06 | 1.38e-04 | 61 |
| GO:001605511 | Liver | Cirrhotic | Wnt signaling pathway | 150/4634 | 444/18723 | 9.75e-06 | 1.42e-04 | 150 |
| GO:019873811 | Liver | Cirrhotic | cell-cell signaling by wnt | 150/4634 | 446/18723 | 1.28e-05 | 1.80e-04 | 150 |
| GO:007121411 | Liver | Cirrhotic | cellular response to abiotic stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
| GO:010400411 | Liver | Cirrhotic | cellular response to environmental stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
| GO:00018905 | Liver | Cirrhotic | placenta development | 57/4634 | 144/18723 | 5.74e-05 | 6.58e-04 | 57 |
| GO:00712487 | Liver | Cirrhotic | cellular response to metal ion | 73/4634 | 197/18723 | 7.73e-05 | 8.54e-04 | 73 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 |
| 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 |
| PKD2 | SNV | Missense_Mutation | rs748241808 | c.2615N>A | p.Arg872Gln | p.R872Q | Q13563 | protein_coding | deleterious(0.05) | benign(0.007) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PKD2 | SNV | Missense_Mutation | rs757656223 | c.1870N>A | p.Asp624Asn | p.D624N | Q13563 | protein_coding | tolerated(0.27) | benign(0.07) | TCGA-AR-A1AI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
| PKD2 | SNV | Missense_Mutation | rs770609334 | c.2668N>A | p.Glu890Lys | p.E890K | Q13563 | protein_coding | tolerated(0.07) | probably_damaging(0.981) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| PKD2 | SNV | Missense_Mutation | c.1637C>T | p.Pro546Leu | p.P546L | Q13563 | protein_coding | deleterious(0) | benign(0.122) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PKD2 | SNV | Missense_Mutation | c.2355N>C | p.Glu785Asp | p.E785D | Q13563 | protein_coding | deleterious(0.03) | benign(0.214) | TCGA-E9-A1R4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD | |
| PKD2 | SNV | Missense_Mutation | rs761597786 | c.2449N>A | p.Asp817Asn | p.D817N | Q13563 | protein_coding | tolerated(0.16) | benign(0.02) | TCGA-LL-A740-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
| PKD2 | SNV | Missense_Mutation | rs144590958 | c.2729N>A | p.Arg910His | p.R910H | Q13563 | protein_coding | deleterious(0) | probably_damaging(0.925) | TCGA-WT-AB44-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| PKD2 | SNV | Missense_Mutation | c.1069N>T | p.Pro357Ser | p.P357S | Q13563 | protein_coding | tolerated(0.35) | benign(0.115) | TCGA-EK-A3GJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| PKD2 | SNV | Missense_Mutation | rs755031837 | c.2534G>A | p.Arg845Gln | p.R845Q | Q13563 | protein_coding | tolerated(0.07) | probably_damaging(0.978) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
| PKD2 | SNV | Missense_Mutation | c.1904C>T | p.Thr635Ile | p.T635I | Q13563 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
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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 |
| 5311 | PKD2 | DRUGGABLE GENOME, TUMOR SUPPRESSOR, ION CHANNEL, TRANSPORTER | allopurinol | ALLOPURINOL | 30924126 |
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