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| TissGeneSummary for PNPLA1 |
 Gene summary |
| Basic gene information | Gene symbol | PNPLA1 |
| Gene name | patatin-like phospholipase domain containing 1 | |
| Synonyms | ARCI10|dJ50J22.1 | |
| Cytomap | UCSC genome browser: 6p21.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001145716.2, NM_001145717.1,NM_173676.2,NM_001039725.1, | |
| Description | patatin-like phospholipase domain-containing protein 1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 612121 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000180316 | ||
| HPRD : 17869 | ||
| Vega : OTTHUMG00000014590 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PNPLA1 | |
| BioGPS: 285848 | ||
| Pathway | NCI Pathway Interaction Database: PNPLA1 | |
| KEGG: PNPLA1 | ||
| REACTOME: PNPLA1 | ||
| Pathway Commons: PNPLA1 | ||
| Context | iHOP: PNPLA1 | |
| ligand binding site mutation search in PubMed: PNPLA1 | ||
| UCL Cancer Institute: PNPLA1 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Skin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCM | |
| Reference showing the relevant tissue of PNPLA1 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for PNPLA1 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| KIRP | -0.459824378 | 2.906213122 | -3.3660375 | 1.90E-10 | 2.05E-09 |
| KICH | -1.576214628 | 1.523365372 | -3.09958 | 4.59E-07 | 1.83E-06 |
| HNSC | 1.078420535 | -0.322760861 | 1.401181395 | 0.00406 | 0.011277778 |
| KIRC | 0.490106872 | 1.923091594 | -1.432984722 | 5.15E-05 | 0.000112268 |
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| TissGene-miRNA for PNPLA1 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for PNPLA1 |
| TissGeneSNV for PNPLA1 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.S422L | SKCM | 2 |
| p.R126L | ESCA | 2 |
| p.G306E | SKCM | 2 |
| p.G395R | SKCM | 1 |
| p.P234S | SKCM | 1 |
| p.Q402* | HNSC | 1 |
| p.E131K | BLCA | 1 |
| p.S436L | UCEC | 1 |
| p.K379R | COAD | 1 |
| p.S430P | BLCA | 1 |
| p.R41W | UCEC | 1 |
| p.D319N | KIRP | 1 |
| p.E223K | SKCM | 1 |
| p.P441A | BRCA | 1 |
| p.R292S | LUAD | 1 |
| p.R126H | GBM | 1 |
| p.T185I | SKCM | 1 |
| p.S524F | HNSC | 1 |
| p.E313K | SARC | 1 |
| p.L79V | BLCA | 1 |
| p.R126G | LUAD | 1 |
| p.A448D | LGG | 1 |
| p.P527L | SKCM | 1 |
| p.F153I | LUSC | 1 |
| p.P435H | ESCA | 1 |
| p.L160F | LUSC | 1 |
| p.P162S | SKCM | 1 |
| p.G167D | LGG | 1 |
| p.R257Q | SKCM | 1 |
| p.Q418X | SKCM | 1 |
| p.R440Q | SKCM | 1 |
| p.D172N | PRAD | 1 |
| p.Y262C | STAD | 1 |
| p.G320V | PRAD | 1 |
| p.K268X | LIHC | 1 |
| p.S414F | SKCM | 1 |
| p.P271S | UCEC | 1 |
| p.R298G | HNSC | 1 |
| p.R520K | HNSC | 1 |
| p.V475L | LUAD | 1 |
| p.P92L | SKCM | 1 |
| p.R440Q | READ | 1 |
| p.A348T | UCEC | 1 |
| p.G409E | SKCM | 1 |
| p.S191C | BLCA | 1 |
| p.A80T | THYM | 1 |
| p.G306R | SKCM | 1 |
| p.P519S | PRAD | 1 |
| p.E70K | LUAD | 1 |
| p.P425L | SKCM | 1 |
| p.T362A | DLBC | 1 |
| p.R41Q | ESCA | 1 |
| p.Q418* | SKCM | 1 |
| p.E340K | SKCM | 1 |
| p.R292H | BLCA | 1 |
| p.L232F | LUAD | 1 |
| p.E372* | UCEC | 1 |
| p.R166C | LUAD | 1 |
| p.P381L | BLCA | 1 |
| p.V77M | UCEC | 1 |
| p.R354Q | UCEC | 1 |
| p.R246Q | HNSC | 1 |
| p.M213V | COAD | 1 |
| p.Q461X | LIHC | 1 |
| p.Y113C | KIRP | 1 |
| p.N498I | SKCM | 1 |
| p.R298G | LUAD | 1 |
| p.P392S | LGG | 1 |
| p.D100N | UCEC | 1 |
| p.T490M | COAD | 1 |
| p.P371L | SKCM | 1 |
| p.L75V | SKCM | 1 |
| p.E454Q | BLCA | 1 |
| p.R300W | COAD | 1 |
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| TissGeneCNV for PNPLA1 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for PNPLA1 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | BG218678 | PNPLA1-GLIS1 | chr6:36275488 | chr1:54188216 | |
| Chimerdb3.0 | ChiTaRs | NA | BG218677 | PNPLA1-KCTD10 | chr6:36275488 | chr12:109886819 | |
| Chimerdb3.0 | ChiTaRs | NA | BG194684 | PNPLA1-MTOR | chr6:36275482 | chr1:11209072 |
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| TissGeneNet for PNPLA1 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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| TissGeneProg for PNPLA1 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for PNPLA1 |
| TissGeneDrug for PNPLA1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for PNPLA1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0020757 | Ichthyoses | 1 | CTD_human |
| umls:C0020758 | Congenital ichthyosis | 1 | BeFree |
| umls:C0021655 | Insulin Resistance | 1 | GAD |
| umls:C0028754 | Obesity | 1 | BeFree,GAD |
| umls:C0037274 | Dermatologic disorders | 1 | GAD |
| umls:C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | 1 | BeFree,ORPHANET |
| umls:C3554355 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 | 1 | CLINVAR,UNIPROT |
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