mutLBSgeneDB |
Gene summary for MBNL1 |
Gene summary |
Basic gene Info. | Gene symbol | MBNL1 |
Gene name | muscleblind-like splicing regulator 1 | |
Synonyms | EXP|EXP35|EXP40|EXP42|MBNL | |
Cytomap | UCSC genome browser: 3q25 | |
Type of gene | protein-coding | |
RefGenes | NM_021038.3, NM_207292.1,NM_207293.1,NM_207294.1,NM_207295.1, NM_207296.1,NM_207297.1, | |
Description | muscleblind-like protein 1triplet-expansion RNA-binding protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 606516 | |
HGNC : HGNC | ||
Ensembl : ENSG00000152601 | ||
HPRD : 07355 | ||
Vega : OTTHUMG00000159163 | ||
Protein | UniProt: Q9NR56 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MBNL1 | |
BioGPS: 4154 | ||
Pathway | NCI Pathway Interaction Database: MBNL1 | |
KEGG: MBNL1 | ||
REACTOME: MBNL1 | ||
Pathway Commons: MBNL1 | ||
Context | iHOP: MBNL1 | |
ligand binding site mutation search in PubMed: MBNL1 | ||
UCL Cancer Institute: MBNL1 | ||
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:0008380 | RNA splicing | 18335541 | GO:0043484 | regulation of RNA splicing | 15257297 |
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Ligand binding site mutations for MBNL1 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | N192,R190 | G191D | COAD | 1 | N192 | N192I | GBM | 1 | C27 | G25E | GBM | 1 | C27 | R29W | KIRC | 1 | R195 | R195Q | SKCM | 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 MBNL1 |
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 |
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 | C27 | R29W | -0.80388155 | R195 | R195Q | -0.78958276 | N192 | N192I | -0.75237177 | N192 | G191D | -0.62949468 | R190 | G191D | -0.62949468 | C27 | G25E | -0.32146171 |
(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 MBNL1 from PDB |
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Differential gene expression and gene-gene network for MBNL1 |
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 MBNL1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
umls:C0027125 | Myotonia | 1 | Therapeutic |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for MBNL1 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of MBNL1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3d2n | A | C27 | NUC | Nucleic Acids | 3d2s | A | N192 R195 | NUC | Nucleic Acids | 3d2s | C | N192 R195 | NUC | Nucleic Acids | 3d2s | B | R190 R195 | NUC | Nucleic Acids | 3d2s | D | R190 R195 |
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Conservation information for LBS of MBNL1 |
Multiple alignments for Q9NR56 in multiple species |
LBS | AA sequence | # species | Species |
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