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Gene: PKP2 |
Gene summary for PKP2 |
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Gene information | Species | Human | Gene symbol | PKP2 | Gene ID | 5318 |
Gene name | plakophilin 2 | |
Gene Alias | ARVD9 | |
Cytomap | 12p11.21 | |
Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | Q99959 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5318 | PKP2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.31e-15 | -6.59e-01 | 0.0155 |
5318 | PKP2 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.33e-21 | 8.75e-01 | -0.1954 |
5318 | PKP2 | HTA11_83_2000001011 | Human | Colorectum | SER | 8.56e-04 | 5.38e-01 | -0.1526 |
5318 | PKP2 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.73e-10 | -6.37e-01 | 0.096 |
5318 | PKP2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 2.05e-02 | -4.72e-01 | 0.0338 |
5318 | PKP2 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 3.04e-02 | 7.72e-01 | 0.3487 |
5318 | PKP2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.49e-03 | -3.45e-01 | 0.3859 |
5318 | PKP2 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.88e-05 | -7.32e-01 | 0.2585 |
5318 | PKP2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.11e-28 | -7.68e-01 | 0.3005 |
5318 | PKP2 | F007 | Human | Colorectum | FAP | 2.31e-08 | -6.99e-01 | 0.1176 |
5318 | PKP2 | A002-C-010 | Human | Colorectum | FAP | 1.10e-09 | -4.26e-01 | 0.242 |
5318 | PKP2 | A001-C-207 | Human | Colorectum | FAP | 3.47e-04 | -4.59e-01 | 0.1278 |
5318 | PKP2 | A015-C-203 | Human | Colorectum | FAP | 1.08e-35 | -7.11e-01 | -0.1294 |
5318 | PKP2 | A015-C-204 | Human | Colorectum | FAP | 1.89e-03 | -3.52e-01 | -0.0228 |
5318 | PKP2 | A014-C-040 | Human | Colorectum | FAP | 1.19e-04 | -5.22e-01 | -0.1184 |
5318 | PKP2 | A002-C-201 | Human | Colorectum | FAP | 1.38e-18 | -6.39e-01 | 0.0324 |
5318 | PKP2 | A002-C-203 | Human | Colorectum | FAP | 1.17e-10 | -4.81e-01 | 0.2786 |
5318 | PKP2 | A001-C-119 | Human | Colorectum | FAP | 1.13e-09 | -6.61e-01 | -0.1557 |
5318 | PKP2 | A001-C-108 | Human | Colorectum | FAP | 1.14e-20 | -3.68e-01 | -0.0272 |
5318 | PKP2 | A002-C-205 | Human | Colorectum | FAP | 3.48e-29 | -7.25e-01 | -0.1236 |
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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:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:0032970 | Colorectum | AD | regulation of actin filament-based process | 142/3918 | 397/18723 | 4.05e-12 | 5.90e-10 | 142 |
GO:0045216 | Colorectum | AD | cell-cell junction organization | 80/3918 | 200/18723 | 5.57e-10 | 4.58e-08 | 80 |
GO:0034329 | Colorectum | AD | cell junction assembly | 136/3918 | 420/18723 | 2.02e-08 | 1.15e-06 | 136 |
GO:0007043 | Colorectum | AD | cell-cell junction assembly | 57/3918 | 146/18723 | 4.18e-07 | 1.61e-05 | 57 |
GO:0034109 | Colorectum | AD | homotypic cell-cell adhesion | 40/3918 | 90/18723 | 4.37e-07 | 1.67e-05 | 40 |
GO:0002028 | Colorectum | AD | regulation of sodium ion transport | 36/3918 | 90/18723 | 2.89e-05 | 5.37e-04 | 36 |
GO:0098901 | Colorectum | AD | regulation of cardiac muscle cell action potential | 15/3918 | 27/18723 | 8.20e-05 | 1.29e-03 | 15 |
GO:0098911 | Colorectum | AD | regulation of ventricular cardiac muscle cell action potential | 9/3918 | 12/18723 | 9.01e-05 | 1.38e-03 | 9 |
GO:0002934 | Colorectum | AD | desmosome organization | 8/3918 | 10/18723 | 1.09e-04 | 1.62e-03 | 8 |
GO:0030048 | Colorectum | AD | actin filament-based movement | 44/3918 | 127/18723 | 2.31e-04 | 2.99e-03 | 44 |
GO:0010765 | Colorectum | AD | positive regulation of sodium ion transport | 17/3918 | 35/18723 | 2.48e-04 | 3.13e-03 | 17 |
GO:0090257 | Colorectum | AD | regulation of muscle system process | 73/3918 | 252/18723 | 1.46e-03 | 1.24e-02 | 73 |
GO:0086004 | Colorectum | AD | regulation of cardiac muscle cell contraction | 15/3918 | 34/18723 | 1.96e-03 | 1.58e-02 | 15 |
GO:00726591 | Colorectum | SER | protein localization to plasma membrane | 92/2897 | 284/18723 | 6.36e-13 | 1.86e-10 | 92 |
GO:00329701 | Colorectum | SER | regulation of actin filament-based process | 115/2897 | 397/18723 | 4.16e-12 | 8.80e-10 | 115 |
GO:19907781 | Colorectum | SER | protein localization to cell periphery | 98/2897 | 333/18723 | 6.09e-11 | 9.57e-09 | 98 |
GO:00452161 | Colorectum | SER | cell-cell junction organization | 63/2897 | 200/18723 | 9.15e-09 | 7.80e-07 | 63 |
GO:00070431 | Colorectum | SER | cell-cell junction assembly | 45/2897 | 146/18723 | 2.23e-06 | 9.31e-05 | 45 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05412 | Colorectum | FAP | Arrhythmogenic right ventricular cardiomyopathy | 23/1404 | 77/8465 | 2.58e-03 | 1.19e-02 | 7.23e-03 | 23 |
hsa054121 | Colorectum | FAP | Arrhythmogenic right ventricular cardiomyopathy | 23/1404 | 77/8465 | 2.58e-03 | 1.19e-02 | 7.23e-03 | 23 |
hsa054122 | Colorectum | CRC | Arrhythmogenic right ventricular cardiomyopathy | 18/1091 | 77/8465 | 7.90e-03 | 3.77e-02 | 2.55e-02 | 18 |
hsa054123 | Colorectum | CRC | Arrhythmogenic right ventricular cardiomyopathy | 18/1091 | 77/8465 | 7.90e-03 | 3.77e-02 | 2.55e-02 | 18 |
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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 |
PKP2 | SNV | Missense_Mutation | rs369518480 | c.1469N>A | p.Arg490Gln | p.R490Q | Q99959 | protein_coding | tolerated_low_confidence(0.3) | benign(0) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD |
PKP2 | SNV | Missense_Mutation | rs201803918 | c.974N>T | p.Ala325Val | p.A325V | Q99959 | protein_coding | tolerated(0.12) | benign(0.009) | TCGA-DS-A7WF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
PKP2 | SNV | Missense_Mutation | rs727505312 | c.2554N>A | p.Glu852Lys | p.E852K | Q99959 | protein_coding | deleterious(0.01) | benign(0.438) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PKP2 | SNV | Missense_Mutation | novel | c.520N>T | p.Ala174Ser | p.A174S | Q99959 | protein_coding | tolerated(0.16) | benign(0.039) | TCGA-VS-A8EC-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
PKP2 | SNV | Missense_Mutation | c.635N>A | p.Arg212His | p.R212H | Q99959 | protein_coding | tolerated(0.33) | benign(0.406) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PKP2 | SNV | Missense_Mutation | c.2252C>T | p.Ser751Leu | p.S751L | Q99959 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
PKP2 | SNV | Missense_Mutation | c.2261G>T | p.Arg754Met | p.R754M | Q99959 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PKP2 | SNV | Missense_Mutation | c.722N>G | p.Leu241Arg | p.L241R | Q99959 | protein_coding | tolerated(0.35) | benign(0.125) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
PKP2 | SNV | Missense_Mutation | c.1525N>G | p.Leu509Val | p.L509V | Q99959 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
PKP2 | SNV | Missense_Mutation | c.815G>T | p.Arg272Met | p.R272M | Q99959 | protein_coding | deleterious(0) | possibly_damaging(0.819) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=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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