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mutLBSgeneDB |
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| Gene summary for GORASP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GORASP1 |
| Gene name | golgi reassembly stacking protein 1, 65kDa | |
| Synonyms | GOLPH5|GRASP65|P65 | |
| Cytomap | UCSC genome browser: 3p22-p21.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001278789.1, NM_001278790.1,NM_031899.3,NR_103866.1,NR_103867.1, | |
| Description | Golgi peripheral membrane protein p65Golgi phosphoprotein 5Golgi reassembly and stacking protein 1Golgi reassembly-stacking protein 1golgi reassembly-stacking protein of 65 kDa | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606867 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000114745 | ||
| HPRD : 06038 | ||
| Vega : OTTHUMG00000131292 | ||
| Protein | UniProt: Q9BQQ3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GORASP1 | |
| BioGPS: 64689 | ||
| Pathway | NCI Pathway Interaction Database: GORASP1 | |
| KEGG: GORASP1 | ||
| REACTOME: GORASP1 | ||
| Pathway Commons: GORASP1 | ||
| Context | iHOP: GORASP1 | |
| ligand binding site mutation search in PubMed: GORASP1 | ||
| UCL Cancer Institute: GORASP1 | ||
| 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 GORASP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A108 | R106S | COAD | 2 | V100 | V100A | COAD | 1 | L152 | F150S | COAD | 1 | A108 | R106C | OV | 1 | E147 | F149Y | UCEC | 1 | E147 | F149V | UCEC | 1 | A108 | R106C | 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 GORASP1 |
| 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 | A108 | R106S | -1.4849115 | A108 | R106C | -1.2280195 | L152 | F150S | -1.1114371 | E147 | F149V | -0.77207944 | E147 | F149Y | -0.74157835 | V100 | V100A | -0.6621243 |
| (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 GORASP1 from PDB |
| PDB ID | PDB title | PDB structure | PDB not available for this protein |  |
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| Differential gene expression and gene-gene network for GORASP1 |
| 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 GORASP1 |
| 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 GORASP1 |
| 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 GORASP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (SER,ASN,PRO,CYS,ILE,PRO,PHE,PHE,TYR,ARG,ALA,ASP,GLU,ASN,ASP,GLU,VAL,LYS,ILE,THR,VAL,ILE) | 4rey | A | V100 A108 E147 L152 |
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| Conservation information for LBS of GORASP1 |
| Multiple alignments for Q9BQQ3 in multiple species |
| LBS | AA sequence | # species | Species |
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