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mutLBSgeneDB |
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| Gene summary for MBTD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MBTD1 |
| Gene name | mbt domain containing 1 | |
| Synonyms | SA49P01 | |
| Cytomap | UCSC genome browser: 17q21.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_017643.2, | |
| Description | MBT domain-containing protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000011258 | ||
| HPRD : 14369 | ||
| Vega : OTTHUMG00000150442 | ||
| Protein | UniProt: Q05BQ5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MBTD1 | |
| BioGPS: 54799 | ||
| Pathway | NCI Pathway Interaction Database: MBTD1 | |
| KEGG: MBTD1 | ||
| REACTOME: MBTD1 | ||
| Pathway Commons: MBTD1 | ||
| Context | iHOP: MBTD1 | |
| ligand binding site mutation search in PubMed: MBTD1 | ||
| UCL Cancer Institute: MBTD1 | ||
| 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 MBTD1 |
| 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 | K256 | W255C | COAD | 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 MBTD1 |
| 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 | K256 | W255C | -0.94608543 |
| (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 MBTD1 from PDB |
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| Differential gene expression and gene-gene network for MBTD1 |
| 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 MBTD1 |
| 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 MBTD1 |
| 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 MBTD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (PHE,SER,VAL,THR,MET,TRP,SER) | 4c5i | A | K256 |
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| Conservation information for LBS of MBTD1 |
| Multiple alignments for Q05BQ5 in multiple species |
| LBS | AA sequence | # species | Species | A236 | PVGWCAASGKP | 2 | Homo sapiens, Mus musculus | A236 | PVGWCATSGKP | 1 | Xenopus tropicalis | A237 | VGWCAASGKPL | 2 | Homo sapiens, Mus musculus | A237 | VGWCATSGKPL | 1 | Xenopus tropicalis | A266 | KRLTGAKTLPP | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | G233 | DIHPVGWCAAS | 2 | Homo sapiens, Mus musculus | G233 | DVHPVGWCATS | 1 | Xenopus tropicalis | G239 | WCAASGKPLVP | 2 | Homo sapiens, Mus musculus | G239 | WCATSGKPLVP | 1 | Xenopus tropicalis | G265 | VKRLTGAKTLP | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K240 | CAASGKPLVPP | 2 | Homo sapiens, Mus musculus | K240 | CATSGKPLVPP | 1 | Xenopus tropicalis | K256 | KYTNWKAFLVK | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K267 | RLTGAKTLPPD | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | L242 | ASGKPLVPPRT | 2 | Homo sapiens, Mus musculus | L242 | TSGKPLVPPQT | 1 | Xenopus tropicalis | L259 | NWKAFLVKRLT | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | L263 | FLVKRLTGAKT | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | L269 | TGAKTLPPDFS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | P241 | AASGKPLVPPR | 2 | Homo sapiens, Mus musculus | P241 | ATSGKPLVPPQ | 1 | Xenopus tropicalis | P270 | GAKTLPPDFSQ | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | P271 | AKTLPPDFSQK | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | T264 | LVKRLTGAKTL | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | T268 | LTGAKTLPPDF | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | V232 | SDIHPVGWCAA | 2 | Homo sapiens, Mus musculus | V232 | PDVHPVGWCAT | 1 | Xenopus tropicalis | V260 | WKAFLVKRLTG | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus |
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