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mutLBSgeneDB |
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| Gene summary for FMR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | FMR1 |
| Gene name | fragile X mental retardation 1 | |
| Synonyms | FMRP|FRAXA|POF|POF1 | |
| Cytomap | UCSC genome browser: Xq27.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001185075.1, NM_001185076.1,NM_001185081.1,NM_001185082.1,NM_002024.5, NR_033699.1,NR_033700.1, | |
| Description | fragile X mental retardation protein 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 309550 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000102081 | ||
| HPRD : 02398 | ||
| Vega : OTTHUMG00000022606 | ||
| Protein | UniProt: Q06787 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FMR1 | |
| BioGPS: 2332 | ||
| Pathway | NCI Pathway Interaction Database: FMR1 | |
| KEGG: FMR1 | ||
| REACTOME: FMR1 | ||
| Pathway Commons: FMR1 | ||
| Context | iHOP: FMR1 | |
| ligand binding site mutation search in PubMed: FMR1 | ||
| UCL Cancer Institute: FMR1 | ||
| 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 FMR1 |
| 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 | E257 | E257V | LUAD | 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 FMR1 |
| 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 | E257 | E257V | -1.0863753 |
| (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 FMR1 from PDB |
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| Differential gene expression and gene-gene network for FMR1 |
| 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 FMR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0016667 | Fragile X Syndrome | 523 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1839780 | Fragile X Tremor Ataxia Syndrome | 118 | Biomarker, GeneticVariation |
| umls:C0085215 | Primary Ovarian Insufficiency | 71 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 35 | Biomarker, GeneticVariation |
| umls:C3714756 | Intellectual Disability | 25 | Biomarker, GeneticVariation |
| umls:C0000768 | Congenital Abnormalities | 4 | Biomarker |
| umls:C0009241 | Cognition Disorders | 3 | Biomarker |
| umls:C2749127 | Primary Ovarian Insufficiency, Fragile X-Associated | 2 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 2 | Biomarker |
| umls:C0282631 | Facies | 1 | Biomarker |
| umls:C0018051 | Gonadal Dysgenesis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FMR1 |
| 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 FMR1 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 FMR1 |
| Multiple alignments for Q06787 in multiple species |
| LBS | AA sequence | # species | Species | E227 | QFIVREDLMGL | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | E227 | EFRVRDDLMGL | 1 | Drosophila melanogaster | E257 | AIDLDEDTCTF | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | E257 | NIELEEKSCTF | 1 | Drosophila melanogaster |
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