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Gene: PNPLA1 |
Gene summary for PNPLA1 |
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Gene information | Species | Human | Gene symbol | PNPLA1 | Gene ID | 285848 |
Gene name | patatin like phospholipase domain containing 1 | |
Gene Alias | ARCI10 | |
Cytomap | 6p21.31 | |
Gene Type | protein-coding | GO ID | GO:0006629 | UniProtAcc | Q8N8W4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
285848 | PNPLA1 | HCC1 | Human | Liver | HCC | 5.10e-04 | 4.65e-01 | 0.5336 |
285848 | PNPLA1 | HCC2 | Human | Liver | HCC | 4.15e-09 | 6.49e-01 | 0.5341 |
285848 | PNPLA1 | HCC5 | Human | Liver | HCC | 1.57e-04 | 5.85e-01 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004424222 | Liver | HCC | cellular lipid catabolic process | 134/7958 | 214/18723 | 2.07e-09 | 5.79e-08 | 134 |
GO:00550882 | Liver | HCC | lipid homeostasis | 103/7958 | 167/18723 | 4.27e-07 | 7.18e-06 | 103 |
GO:004648611 | Liver | HCC | glycerolipid metabolic process | 215/7958 | 392/18723 | 4.54e-07 | 7.49e-06 | 215 |
GO:001604221 | Liver | HCC | lipid catabolic process | 175/7958 | 320/18723 | 6.50e-06 | 7.88e-05 | 175 |
GO:00066431 | Liver | HCC | membrane lipid metabolic process | 115/7958 | 203/18723 | 3.17e-05 | 3.22e-04 | 115 |
GO:00066412 | Liver | HCC | triglyceride metabolic process | 59/7958 | 100/18723 | 6.35e-04 | 3.93e-03 | 59 |
GO:000663911 | Liver | HCC | acylglycerol metabolic process | 72/7958 | 128/18723 | 1.16e-03 | 6.54e-03 | 72 |
GO:0006665 | Liver | HCC | sphingolipid metabolic process | 85/7958 | 155/18723 | 1.27e-03 | 6.92e-03 | 85 |
GO:000663811 | Liver | HCC | neutral lipid metabolic process | 72/7958 | 129/18723 | 1.54e-03 | 8.14e-03 | 72 |
GO:0046467 | Liver | HCC | membrane lipid biosynthetic process | 78/7958 | 142/18723 | 1.85e-03 | 9.46e-03 | 78 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
PNPLA1 | SNV | Missense_Mutation | novel | c.1506N>T | p.Lys502Asn | p.K502N | Q8N8W4 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.864) | TCGA-NC-A5HM-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PNPLA1 | SNV | Missense_Mutation | c.892C>G | p.Arg298Gly | p.R298G | Q8N8W4 | protein_coding | deleterious(0.02) | benign(0.018) | TCGA-BB-A5HY-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD | |
PNPLA1 | SNV | Missense_Mutation | novel | c.1571N>T | p.Ser524Phe | p.S524F | Q8N8W4 | protein_coding | deleterious_low_confidence(0) | benign(0.011) | TCGA-CV-7568-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNPLA1 | SNV | Missense_Mutation | novel | c.1559N>A | p.Arg520Lys | p.R520K | Q8N8W4 | protein_coding | tolerated_low_confidence(0.08) | benign(0.019) | TCGA-D6-6516-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PNPLA1 | SNV | Missense_Mutation | rs746575171 | c.737N>A | p.Arg246Gln | p.R246Q | Q8N8W4 | protein_coding | tolerated(0.42) | benign(0.153) | TCGA-T3-A92M-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
PNPLA1 | SNV | Missense_Mutation | novel | c.959N>T | p.Gly320Val | p.G320V | Q8N8W4 | protein_coding | tolerated(0.12) | benign(0.023) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
PNPLA1 | SNV | Missense_Mutation | novel | c.1555N>T | p.Pro519Ser | p.P519S | Q8N8W4 | protein_coding | tolerated_low_confidence(0.5) | benign(0.006) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
PNPLA1 | SNV | Missense_Mutation | novel | c.785N>G | p.Tyr262Cys | p.Y262C | Q8N8W4 | protein_coding | deleterious(0.01) | possibly_damaging(0.707) | TCGA-BR-8372-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | etoposide | CR |
PNPLA1 | SNV | Missense_Mutation | novel | c.1435N>T | p.His479Tyr | p.H479Y | Q8N8W4 | protein_coding | deleterious_low_confidence(0.04) | benign(0.029) | TCGA-VQ-A94R-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | fluorouracil | PD |
PNPLA1 | SNV | Missense_Mutation | rs12194501 | c.559N>A | p.Ala187Thr | p.A187T | Q8N8W4 | protein_coding | tolerated(0.85) | benign(0.003) | TCGA-VQ-AA6D-01 | Stomach | stomach adenocarcinoma | Female | <65 | III/IV | Chemotherapy | fluorouracil | CR |
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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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