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mutLBSgeneDB |
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| Gene summary for PNLIP |
 Gene summary |
| Basic gene Info. | Gene symbol | PNLIP |
| Gene name | pancreatic lipase | |
| Synonyms | PL|PNLIPD|PTL | |
| Cytomap | UCSC genome browser: 10q26.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000936.2, | |
| Description | pancreatic triacylglycerol lipasetriacylglycerol acylhydrolase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 246600 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000175535 | ||
| HPRD : 02005 | ||
| Vega : OTTHUMG00000019103 | ||
| Protein | UniProt: P16233 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PNLIP | |
| BioGPS: 5406 | ||
| Pathway | NCI Pathway Interaction Database: PNLIP | |
| KEGG: PNLIP | ||
| REACTOME: PNLIP | ||
| Pathway Commons: PNLIP | ||
| Context | iHOP: PNLIP | |
| ligand binding site mutation search in PubMed: PNLIP | ||
| UCL Cancer Institute: PNLIP | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for PNLIP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H280 | L281V | BRCA | 1 | H280 | N279Y | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for PNLIP |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H280 | N279Y | 0.55757309 | H280 | L281V | -1.0958251 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for PNLIP from PDB |
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| Differential gene expression and gene-gene network for PNLIP |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for PNLIP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PNLIP |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB01083 | Orlistat | Small molecule |  |
| Experimental | DB04233 | (Hydroxyethyloxy)Tri(Ethyloxy)Octane | Small molecule |  |
| Experimental | DB08222 | METHOXYUNDECYLPHOSPHINIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PNLIP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PNLIP |
| Multiple alignments for P16233 in multiple species |
| LBS | AA sequence | # species | Species | A195 | TGLDPAEPCFQ | 1 | Homo sapiens | A195 | TGLDPAEPYFQ | 1 | Mus musculus | A195 | TGLDAAEPYFQ | 1 | Rattus norvegicus | D209 | EEVRLDPTDAQ | 2 | Mus musculus, Rattus norvegicus | D209 | ELVRLDPSDAK | 1 | Homo sapiens | D212 | RLDPTDAQFVD | 2 | Mus musculus, Rattus norvegicus | D212 | RLDPSDAKFVD | 1 | Homo sapiens | E204 | FQGTPEEVRLD | 2 | Mus musculus, Rattus norvegicus | E204 | FQGTPELVRLD | 1 | Homo sapiens | F232 | IPNLGFGMSQT | 2 | Mus musculus, Rattus norvegicus | F232 | VPNLGFGMSQV | 1 | Homo sapiens | F94 | IIIHGFIDKGE | 2 | Mus musculus, Rattus norvegicus | F94 | FIIHGFIDKGE | 1 | Homo sapiens | G93 | RIIIHGFIDKG | 2 | Mus musculus, Rattus norvegicus | G93 | RFIIHGFIDKG | 1 | Homo sapiens | H168 | VHLIGHSLGSH | 2 | Mus musculus, Rattus norvegicus | H168 | VHVIGHSLGAH | 1 | Homo sapiens | H280 | FAACNHLRSYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L170 | VIGHSLGAHAA | 1 | Homo sapiens | L170 | LIGHSLGSHIA | 1 | Mus musculus | L170 | LIGHSLGSHVA | 1 | Rattus norvegicus | L205 | QGTPEEVRLDP | 2 | Mus musculus, Rattus norvegicus | L205 | QGTPELVRLDP | 1 | Homo sapiens | L208 | PEEVRLDPTDA | 2 | Mus musculus, Rattus norvegicus | L208 | PELVRLDPSDA | 1 | Homo sapiens | P197 | LDPAEPCFQGT | 1 | Homo sapiens | P197 | LDPAEPYFQGT | 1 | Mus musculus | P197 | LDAAEPYFQGT | 1 | Rattus norvegicus | R207 | TPEEVRLDPTD | 2 | Mus musculus, Rattus norvegicus | R207 | TPELVRLDPSD | 1 | Homo sapiens | S169 | HVIGHSLGAHA | 1 | Homo sapiens | S169 | HLIGHSLGSHI | 1 | Mus musculus | S169 | HLIGHSLGSHV | 1 | Rattus norvegicus |
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