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mutLBSgeneDB |
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| Gene summary for PIR |
 Gene summary |
| Basic gene Info. | Gene symbol | PIR |
| Gene name | pirin (iron-binding nuclear protein) | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: Xp22.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001018109.2, NM_003662.3, | |
| Description | pirinprobable quercetin 2,3-dioxygenase PIRprobable quercetinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300931 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000087842 | ||
| HPRD : 04510 | ||
| Vega : OTTHUMG00000021176 | ||
| Protein | UniProt: O00625 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PIR | |
| BioGPS: 8544 | ||
| Pathway | NCI Pathway Interaction Database: PIR | |
| KEGG: PIR | ||
| REACTOME: PIR | ||
| Pathway Commons: PIR | ||
| Context | iHOP: PIR | |
| ligand binding site mutation search in PubMed: PIR | ||
| UCL Cancer Institute: PIR | ||
| 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 PIR |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L114 | H112D | BRCA | 1 | F45 | K46E | OV | 1 | E103 | P105T | UCEC | 1 | M73 | A74T | 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 PIR |
| 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 | M73 | A74T | -1.0666554 | E103 | P105T | -0.63483065 | F45 | K46E | -0.46464075 | L114 | H112D | -0.21640677 |
| (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 PIR from PDB |
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| Differential gene expression and gene-gene network for PIR |
| 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 PIR |
| 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 PIR |
| 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 PIR go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE2 | IRON(2+) | 1j1l | A | E103 | FE2 | IRON(2+) | 3acl | A | E103 | CO | COBALT(2+) | 4ero | A | E103 | FE | IRON(3+) | 4ewa | A | E103 | MN | MANGANESE(2+) | 4ewd | A | E103 | MN | MANGANESE(2+) | 4ewe | A | E103 | FE2 | IRON(2+) | 4gul | A | E103 | FE2 | IRON(2+) | 4hlt | A | E103 | 3F1 | N-{[4-(BENZYLOXY)PHENYL](METHYL)-LAMBDA}-4-METHYLBENZENESULFONAMIDE | 3acl | A | F45 M73 L114 |
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| Conservation information for LBS of PIR |
| Multiple alignments for O00625 in multiple species |
| LBS | AA sequence | # species | Species | D43 | PFLLFDEFKGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D43 | PFLMLDEFSVS | 1 | Arabidopsis thaliana | D43 | PFVLLVEFSFS | 1 | Arabidopsis thaliana | D43 | PFVSLVEFSVS | 1 | Arabidopsis thaliana | E103 | GILHAEMPCSE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E103 | GIIHSEMP-EE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | E103 | GIIHSEFP-EE | 1 | Arabidopsis thaliana | F45 | LLFDEFKGGRP | 2 | Homo sapiens, Rattus norvegicus | F45 | LLFDEFKGGKP | 1 | Mus musculus | F45 | LMLDEFSVSPP | 1 | Arabidopsis thaliana | F45 | VLLVEFSFSLS | 1 | Arabidopsis thaliana | F45 | VSLVEFSVSPP | 1 | Arabidopsis thaliana | F53 | GRPGGFPDHPH | 2 | Homo sapiens, Rattus norvegicus | F53 | GKPGGFPDHPH | 1 | Mus musculus | F53 | SPPAGFPDHPH | 1 | Arabidopsis thaliana | F53 | SLSAGFPDHPH | 1 | Arabidopsis thaliana | F53 | SPPGGFKDHPH | 1 | Arabidopsis thaliana | H101 | GRGILHAEMPC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H101 | GRGIIHSEMP- | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H101 | GRGIIHSEFP- | 1 | Arabidopsis thaliana | H56 | GGFPDHPHRGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H56 | AGFPDHPHRGF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H56 | GGFKDHPHRGF | 1 | Arabidopsis thaliana | H58 | FPDHPHRGFET | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Arabidopsis thaliana | H58 | FPDHPHRGFES | 1 | Arabidopsis thaliana | H58 | FKDHPHRGFES | 1 | Arabidopsis thaliana | L114 | EPAHGLQLWVN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L114 | EVNKGLQLWIN | 1 | Arabidopsis thaliana | L114 | EVNNGLQLWIN | 1 | Arabidopsis thaliana | L114 | QVNKGLQLWIN | 1 | Arabidopsis thaliana | L41 | LDPFLLFDEFK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L41 | LDPFLMLDEFS | 1 | Arabidopsis thaliana | L41 | LDPFVLLVEFS | 1 | Arabidopsis thaliana | L41 | LDPFVSLVEFS | 1 | Arabidopsis thaliana | M73 | LEGGSMAHEDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M73 | LEGG-ITHQDF | 1 | Arabidopsis thaliana | M73 | LQGG-IIHKDP | 1 | Arabidopsis thaliana | M73 | FQGG-IIHQDC | 1 | Arabidopsis thaliana | M85 | GHVGKMNPGDL | 2 | Mus musculus, Rattus norvegicus | M85 | GHTGKMNPGDL | 1 | Homo sapiens | M85 | GHKGTIYAGDV | 1 | Arabidopsis thaliana | M85 | GHKGTIQAGDV | 1 | Arabidopsis thaliana | M85 | GNKGTIHEGDV | 1 | Arabidopsis thaliana | Q115 | PAHGLQLWVNL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q115 | VNKGLQLWINL | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q115 | VNNGLQLWINL | 1 | Arabidopsis thaliana | S65 | GFETVSYLLEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S65 | GFETVTYVLEG | 1 | Arabidopsis thaliana | S65 | GFESVTYMLQG | 1 | Arabidopsis thaliana | S65 | GFESVTYMFQG | 1 | Arabidopsis thaliana | W117 | HGLQLWVNLRS | 1 | Homo sapiens | W117 | HGLQLWVNLRR | 1 | Mus musculus | W117 | HGLQLWVNLKR | 1 | Rattus norvegicus | W117 | KGLQLWINLSS | 1 | Arabidopsis thaliana | W117 | NGLQLWINLPS | 1 | Arabidopsis thaliana | W117 | KGLQLWINLPS | 1 | Arabidopsis thaliana | Y66 | FETVSYLLEGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y66 | FETVTYVLEGG | 1 | Arabidopsis thaliana | Y66 | FESVTYMLQGG | 1 | Arabidopsis thaliana | Y66 | FESVTYMFQGG | 1 | Arabidopsis thaliana |
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