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mutLBSgeneDB |
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| Gene summary for PIWIL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PIWIL1 |
| Gene name | piwi-like RNA-mediated gene silencing 1 | |
| Synonyms | CT80.1|HIWI|MIWI|PIWI | |
| Cytomap | UCSC genome browser: 12q24.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001190971.1, NM_004764.4, | |
| Description | piwi homologpiwi-like protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605571 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000125207 | ||
| HPRD : 10409 | ||
| Vega : OTTHUMG00000168382 | ||
| Protein | UniProt: Q96J94 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PIWIL1 | |
| BioGPS: 9271 | ||
| Pathway | NCI Pathway Interaction Database: PIWIL1 | |
| KEGG: PIWIL1 | ||
| REACTOME: PIWIL1 | ||
| Pathway Commons: PIWIL1 | ||
| Context | iHOP: PIWIL1 | |
| ligand binding site mutation search in PubMed: PIWIL1 | ||
| UCL Cancer Institute: PIWIL1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to 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 PIWIL1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F332 | S330N | BLCA | 1 | A380 | A380G | BLCA | 1 | Y350 | Q352K | LUSC | 1 | Y346 | R347K | SKCM | 1 | F342 | V340A | STAD | 1 | A335 | A335T | UCEC | 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 PIWIL1 |
| 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 | F342 | V340A | -1.3993311 | Y346 | R347K | -1.2228774 | A335 | A335T | -1.2207133 | F332 | S330N | -0.96121164 | A380 | A380G | -0.68575234 | Y350 | Q352K | -0.61023041 |
| (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 PIWIL1 from PDB |
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| Differential gene expression and gene-gene network for PIWIL1 |
| 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 PIWIL1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PIWIL1 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PIWIL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3o3i | X | F332 A335 F342 Y346 Y350 | NUC | Nucleic Acids | 3o6e | X | F332 A335 F342 Y346 Y350 A380 | NUC | Nucleic Acids | 3o7v | X | F332 A335 F342 Y346 Y350 A380 | NUC | Nucleic Acids | 2l5d | A | F342 Y346 Y350 |
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| Conservation information for LBS of PIWIL1 |
| Multiple alignments for Q96J94 in multiple species |
| LBS | AA sequence | # species | Species | A335 | STFKKADGSEV | 2 | Homo sapiens, Mus musculus | A335 | CKFKTNDG-EI | 1 | Drosophila melanogaster | A335 | NTFKKGDT-EI | 1 | Danio rerio | A335 | CTFRRADGSEI | 1 | Gallus gallus | A380 | TLPGPAMLIPE | 2 | Homo sapiens, Mus musculus | A380 | NDQA-IMIIPE | 1 | Drosophila melanogaster | A380 | PPPGPAMLVPE | 1 | Danio rerio | A380 | VTVGPVVLIPE | 1 | Gallus gallus | F332 | NPKSTFKKADG | 2 | Homo sapiens, Mus musculus | F332 | TPLCKFKTNDG | 1 | Drosophila melanogaster | F332 | TPNNTFKKGDT | 1 | Danio rerio | F332 | NPQCTFRRADG | 1 | Gallus gallus | F342 | GSEVSFLEYYR | 2 | Homo sapiens, Mus musculus | F342 | G-EISYVDYYK | 1 | Drosophila melanogaster | F342 | T-EISFKNYFK | 1 | Danio rerio | F342 | GSEISYIDYYK | 1 | Gallus gallus | K315 | TKYNNKTYRVD | 2 | Homo sapiens, Mus musculus | K315 | TDYNNKTYRID | 1 | Drosophila melanogaster | K315 | TKYNNKTYRID | 1 | Danio rerio | K315 | TKYNNRTYRVD | 1 | Gallus gallus | M381 | LPGPAMLIPEL | 2 | Homo sapiens, Mus musculus | M381 | DQA-IMIIPEL | 1 | Drosophila melanogaster | M381 | PPGPAMLVPEF | 1 | Danio rerio | M381 | TVGPVVLIPEL | 1 | Gallus gallus | N313 | VLTKYNNKTYR | 2 | Homo sapiens, Mus musculus | N313 | ILTDYNNKTYR | 1 | Drosophila melanogaster | N313 | ILTKYNNKTYR | 1 | Danio rerio | N313 | VLTKYNNRTYR | 1 | Gallus gallus | P379 | GTLPGPAMLIP | 2 | Homo sapiens, Mus musculus | P379 | GNDQA-IMIIP | 1 | Drosophila melanogaster | P379 | RPPPGPAMLVP | 1 | Danio rerio | P379 | NVTVGPVVLIP | 1 | Gallus gallus | Q349 | EYYRKQYNQEI | 2 | Homo sapiens, Mus musculus | Q349 | DYYKKRYNIII | 1 | Drosophila melanogaster | Q349 | NYFKSQYGLDI | 1 | Danio rerio | Q349 | DYYKRQYNQDI | 1 | Gallus gallus | Y312 | VVLTKYNNKTY | 1 | Homo sapiens | Y312 | VILTDYNNKTY | 1 | Drosophila melanogaster | Y312 | IILTKYNNKTY | 1 | Danio rerio | Y312 | IVLTKYNNRTY | 1 | Gallus gallus | Y312 | IVLTKYNNKTY | 1 | Mus musculus | Y317 | YNNKTYRVDDI | 2 | Homo sapiens, Mus musculus | Y317 | YNNKTYRIDDV | 1 | Drosophila melanogaster | Y317 | YNNKTYRIDDI | 1 | Danio rerio | Y317 | YNNRTYRVDDI | 1 | Gallus gallus | Y345 | VSFLEYYRKQY | 2 | Homo sapiens, Mus musculus | Y345 | ISYVDYYKKRY | 1 | Drosophila melanogaster | Y345 | ISFKNYFKSQY | 1 | Danio rerio | Y345 | ISYIDYYKRQY | 1 | Gallus gallus | Y346 | SFLEYYRKQYN | 2 | Homo sapiens, Mus musculus | Y346 | SYVDYYKKRYN | 1 | Drosophila melanogaster | Y346 | SFKNYFKSQYG | 1 | Danio rerio | Y346 | SYIDYYKRQYN | 1 | Gallus gallus | Y350 | YYRKQYNQEIT | 2 | Homo sapiens, Mus musculus | Y350 | YYKKRYNIIIR | 1 | Drosophila melanogaster | Y350 | YFKSQYGLDIT | 1 | Danio rerio | Y350 | YYKRQYNQDIS | 1 | Gallus gallus |
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