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mutLBSgeneDB |
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| Gene summary for OCRL |
 Gene summary |
| Basic gene Info. | Gene symbol | OCRL |
| Gene name | oculocerebrorenal syndrome of Lowe | |
| Synonyms | INPP5F|LOCR|NPHL2|OCRL-1|OCRL1 | |
| Cytomap | UCSC genome browser: Xq25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000276.3, NM_001587.3, | |
| Description | Lowe oculocerebrorenal syndrome proteininositol polyphosphate 5-phosphatase OCRL-1phosphatidylinositol polyphosphate 5-phosphatase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 300535 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000122126 | ||
| HPRD : 02395 | ||
| Vega : OTTHUMG00000022706 | ||
| Protein | UniProt: Q01968 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_OCRL | |
| BioGPS: 4952 | ||
| Pathway | NCI Pathway Interaction Database: OCRL | |
| KEGG: OCRL | ||
| REACTOME: OCRL | ||
| Pathway Commons: OCRL | ||
| Context | iHOP: OCRL | |
| ligand binding site mutation search in PubMed: OCRL | ||
| UCL Cancer Institute: OCRL | ||
| 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 | GO:0032314 | regulation of Rac GTPase activity | 12915445 | GO:0032855 | positive regulation of Rac GTPase activity | 12915445 |
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| Ligand binding site mutations for OCRL |
| 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 | K691 | R689C | COAD | 1 | Y838 | R837H | LUAD | 1 | K736 | E737K | 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 OCRL |
| 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 | K691 | R689C | -1.325108 | Y838 | R837H | -1.2107858 | K736 | E737K | -0.9730685 |
| (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 OCRL from PDB |
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| Differential gene expression and gene-gene network for OCRL |
| 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 OCRL |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028860 | Oculocerebrorenal Syndrome | 65 | Biomarker, GeneticVariation |
| umls:C1845167 | Dent Disease 2 | 3 | Biomarker, GeneticVariation |
| umls:C1848336 | Dent disease 1 | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for OCRL |
| 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 OCRL go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (PRO,PHE,ALA,ARG,LEU,HIS,GLU,CYS,TYR,GLY,GLN,GLU,ILE) | 3qis | A | K691 K736 Y838 |
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| Conservation information for LBS of OCRL |
| Multiple alignments for Q01968 in multiple species |
| LBS | AA sequence | # species | Species |
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