![]() |
|||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Gene: PNPLA2 |
Gene summary for PNPLA2 |
![]() |
Gene information | Species | Human | Gene symbol | PNPLA2 | Gene ID | 57104 |
Gene name | patatin like phospholipase domain containing 2 | |
Gene Alias | 1110001C14Rik | |
Cytomap | 11p15.5 | |
Gene Type | protein-coding | GO ID | GO:0001523 | UniProtAcc | Q96AD5 |
Top |
Malignant transformation analysis |
![]() |
![]() |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57104 | PNPLA2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.10e-03 | 1.36e-01 | 0.0155 |
57104 | PNPLA2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 9.32e-10 | 5.37e-01 | -0.1808 |
57104 | PNPLA2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 9.03e-06 | 3.79e-01 | -0.0811 |
57104 | PNPLA2 | HTA11_347_2000001011 | Human | Colorectum | AD | 4.36e-07 | 2.66e-01 | -0.1954 |
57104 | PNPLA2 | HTA11_411_2000001011 | Human | Colorectum | SER | 4.13e-09 | 1.36e+00 | -0.2602 |
57104 | PNPLA2 | HTA11_2112_2000001011 | Human | Colorectum | SER | 8.47e-10 | 9.27e-01 | -0.2196 |
57104 | PNPLA2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 5.36e-03 | 2.99e-01 | -0.1207 |
57104 | PNPLA2 | HTA11_696_2000001011 | Human | Colorectum | AD | 2.29e-09 | 2.68e-01 | -0.1464 |
57104 | PNPLA2 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.58e-08 | 2.24e-01 | -0.1001 |
57104 | PNPLA2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.62e-07 | 3.63e-01 | -0.059 |
57104 | PNPLA2 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.64e-02 | 3.49e-01 | -0.2061 |
57104 | PNPLA2 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.32e-05 | 3.18e-01 | -0.0842 |
57104 | PNPLA2 | HTA11_9408_2000001011 | Human | Colorectum | AD | 2.21e-02 | 4.75e-01 | 0.0451 |
57104 | PNPLA2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 6.87e-12 | 3.58e-01 | 0.0674 |
57104 | PNPLA2 | HTA11_6818_2000001011 | Human | Colorectum | AD | 4.04e-02 | 3.00e-01 | 0.0112 |
57104 | PNPLA2 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 2.18e-03 | 7.77e-01 | 0.3487 |
57104 | PNPLA2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 6.43e-08 | 3.14e-01 | 0.3859 |
57104 | PNPLA2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.16e-03 | 1.79e-01 | 0.3005 |
57104 | PNPLA2 | LZE4T | Human | Esophagus | ESCC | 5.68e-06 | -9.44e-02 | 0.0811 |
57104 | PNPLA2 | LZE7T | Human | Esophagus | ESCC | 1.74e-04 | -7.16e-02 | 0.0667 |
Page: 1 2 3 4 5 6 7 8 |
![]() |
∗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. |
Top |
Malignant transformation related pathway analysis |
![]() |
![]() |
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 |
![]() |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000606612 | Liver | Cirrhotic | alcohol metabolic process | 141/4634 | 353/18723 | 1.57e-10 | 8.03e-09 | 141 |
GO:005508811 | Liver | Cirrhotic | lipid homeostasis | 74/4634 | 167/18723 | 2.46e-08 | 8.51e-07 | 74 |
GO:001921611 | Liver | Cirrhotic | regulation of lipid metabolic process | 119/4634 | 331/18723 | 3.05e-06 | 5.39e-05 | 119 |
GO:005123511 | Liver | Cirrhotic | maintenance of location | 117/4634 | 327/18723 | 4.78e-06 | 7.86e-05 | 117 |
GO:004424212 | Liver | Cirrhotic | cellular lipid catabolic process | 82/4634 | 214/18723 | 6.91e-06 | 1.08e-04 | 82 |
GO:001604212 | Liver | Cirrhotic | lipid catabolic process | 112/4634 | 320/18723 | 2.31e-05 | 3.03e-04 | 112 |
GO:001087611 | Liver | Cirrhotic | lipid localization | 147/4634 | 448/18723 | 6.24e-05 | 7.12e-04 | 147 |
GO:00067202 | Liver | Cirrhotic | isoprenoid metabolic process | 46/4634 | 116/18723 | 2.71e-04 | 2.41e-03 | 46 |
GO:00108831 | Liver | Cirrhotic | regulation of lipid storage | 26/4634 | 57/18723 | 4.79e-04 | 3.85e-03 | 26 |
GO:000664111 | Liver | Cirrhotic | triglyceride metabolic process | 40/4634 | 100/18723 | 5.36e-04 | 4.23e-03 | 40 |
GO:00199151 | Liver | Cirrhotic | lipid storage | 35/4634 | 87/18723 | 1.03e-03 | 7.20e-03 | 35 |
GO:0010888 | Liver | Cirrhotic | negative regulation of lipid storage | 13/4634 | 23/18723 | 1.12e-03 | 7.70e-03 | 13 |
GO:00067212 | Liver | Cirrhotic | terpenoid metabolic process | 38/4634 | 97/18723 | 1.16e-03 | 7.89e-03 | 38 |
GO:004244511 | Liver | Cirrhotic | hormone metabolic process | 73/4634 | 218/18723 | 2.22e-03 | 1.36e-02 | 73 |
GO:19059521 | Liver | Cirrhotic | regulation of lipid localization | 62/4634 | 181/18723 | 2.53e-03 | 1.51e-02 | 62 |
GO:1905953 | Liver | Cirrhotic | negative regulation of lipid localization | 26/4634 | 66/18723 | 5.99e-03 | 2.99e-02 | 26 |
GO:00343085 | Liver | Cirrhotic | primary alcohol metabolic process | 37/4634 | 102/18723 | 6.17e-03 | 3.07e-02 | 37 |
GO:012025411 | Liver | Cirrhotic | olefinic compound metabolic process | 51/4634 | 153/18723 | 1.03e-02 | 4.61e-02 | 51 |
GO:000989622 | Liver | HCC | positive regulation of catabolic process | 335/7958 | 492/18723 | 3.83e-31 | 1.87e-28 | 335 |
GO:003133122 | Liver | HCC | positive regulation of cellular catabolic process | 295/7958 | 427/18723 | 3.20e-29 | 1.45e-26 | 295 |
Page: 1 2 3 4 5 6 7 8 |
![]() |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04714 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa00561 | Colorectum | AD | Glycerolipid metabolism | 24/2092 | 63/8465 | 1.25e-02 | 4.54e-02 | 2.90e-02 | 24 |
hsa047141 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa005611 | Colorectum | AD | Glycerolipid metabolism | 24/2092 | 63/8465 | 1.25e-02 | 4.54e-02 | 2.90e-02 | 24 |
hsa047142 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
hsa047143 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
hsa047144 | Colorectum | MSS | Thermogenesis | 113/1875 | 232/8465 | 1.52e-19 | 4.62e-18 | 2.83e-18 | 113 |
hsa005612 | Colorectum | MSS | Glycerolipid metabolism | 23/1875 | 63/8465 | 6.55e-03 | 2.64e-02 | 1.62e-02 | 23 |
hsa047145 | Colorectum | MSS | Thermogenesis | 113/1875 | 232/8465 | 1.52e-19 | 4.62e-18 | 2.83e-18 | 113 |
hsa005613 | Colorectum | MSS | Glycerolipid metabolism | 23/1875 | 63/8465 | 6.55e-03 | 2.64e-02 | 1.62e-02 | 23 |
hsa047146 | Colorectum | MSI-H | Thermogenesis | 56/797 | 232/8465 | 1.79e-11 | 4.14e-10 | 3.47e-10 | 56 |
hsa047147 | Colorectum | MSI-H | Thermogenesis | 56/797 | 232/8465 | 1.79e-11 | 4.14e-10 | 3.47e-10 | 56 |
hsa0471439 | Esophagus | HGIN | Thermogenesis | 91/1383 | 232/8465 | 1.97e-17 | 5.36e-16 | 4.25e-16 | 91 |
hsa04714114 | Esophagus | HGIN | Thermogenesis | 91/1383 | 232/8465 | 1.97e-17 | 5.36e-16 | 4.25e-16 | 91 |
hsa04714211 | Esophagus | ESCC | Thermogenesis | 163/4205 | 232/8465 | 9.22e-11 | 1.14e-09 | 5.86e-10 | 163 |
hsa04714310 | Esophagus | ESCC | Thermogenesis | 163/4205 | 232/8465 | 9.22e-11 | 1.14e-09 | 5.86e-10 | 163 |
hsa0471414 | Liver | Cirrhotic | Thermogenesis | 121/2530 | 232/8465 | 5.70e-13 | 1.36e-11 | 8.36e-12 | 121 |
hsa0471415 | Liver | Cirrhotic | Thermogenesis | 121/2530 | 232/8465 | 5.70e-13 | 1.36e-11 | 8.36e-12 | 121 |
hsa0471422 | Liver | HCC | Thermogenesis | 170/4020 | 232/8465 | 5.36e-16 | 2.25e-14 | 1.25e-14 | 170 |
hsa005615 | Liver | HCC | Glycerolipid metabolism | 41/4020 | 63/8465 | 3.59e-03 | 1.12e-02 | 6.22e-03 | 41 |
Page: 1 2 |
Top |
Cell-cell communication analysis |
![]() |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
Page: 1 |
Top |
Single-cell gene regulatory network inference analysis |
![]() |
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 |
Top |
Somatic mutation of malignant transformation related genes |
![]() |
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 |
PNPLA2 | SNV | Missense_Mutation | novel | c.658N>A | p.Tyr220Asn | p.Y220N | Q96AD5 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PNPLA2 | SNV | Missense_Mutation | novel | c.727N>T | p.Arg243Trp | p.R243W | Q96AD5 | protein_coding | deleterious(0.02) | possibly_damaging(0.821) | TCGA-LL-A5YL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PNPLA2 | SNV | Missense_Mutation | novel | c.266N>G | p.Asn89Ser | p.N89S | Q96AD5 | protein_coding | tolerated(0.06) | possibly_damaging(0.781) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PNPLA2 | SNV | Missense_Mutation | novel | c.940N>C | p.Glu314Gln | p.E314Q | Q96AD5 | protein_coding | deleterious(0.02) | probably_damaging(0.98) | TCGA-VS-A9UU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PNPLA2 | SNV | Missense_Mutation | rs145699347 | c.616N>T | p.Arg206Trp | p.R206W | Q96AD5 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PNPLA2 | SNV | Missense_Mutation | rs758738508 | c.425N>G | p.Asn142Ser | p.N142S | Q96AD5 | protein_coding | tolerated(0.42) | benign(0.348) | TCGA-CA-6716-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | oxaliplatin | CR |
PNPLA2 | SNV | Missense_Mutation | rs746987189 | c.488G>A | p.Arg163His | p.R163H | Q96AD5 | protein_coding | tolerated(0.06) | possibly_damaging(0.642) | TCGA-CM-4746-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PNPLA2 | SNV | Missense_Mutation | novel | c.907N>T | p.Arg303Trp | p.R303W | Q96AD5 | protein_coding | deleterious(0) | possibly_damaging(0.776) | TCGA-CM-6166-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNPLA2 | SNV | Missense_Mutation | c.194C>A | p.Ala65Asp | p.A65D | Q96AD5 | protein_coding | deleterious(0) | possibly_damaging(0.756) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PNPLA2 | SNV | Missense_Mutation | novel | c.364T>C | p.Ser122Pro | p.S122P | Q96AD5 | protein_coding | tolerated(0.09) | possibly_damaging(0.599) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Page: 1 2 3 |
Top |
Related drugs of malignant transformation related genes |
![]() |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
Page: 1 |