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mutLBSgeneDB |
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| Gene summary for L3MBTL3 |
 Gene summary |
| Basic gene Info. | Gene symbol | L3MBTL3 |
| Gene name | l(3)mbt-like 3 (Drosophila) | |
| Synonyms | MBT-1|MBT1 | |
| Cytomap | UCSC genome browser: 6q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001007102.2, NM_032438.2, | |
| Description | H-l(3)mbt-like protein 3l(3)mbt-like protein 3lethal(3)malignant brain tumor-like protein 3 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000198945 | ||
| HPRD : 11222 | ||
| Vega : OTTHUMG00000015554 | ||
| Protein | UniProt: Q96JM7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_L3MBTL3 | |
| BioGPS: 84456 | ||
| Pathway | NCI Pathway Interaction Database: L3MBTL3 | |
| KEGG: L3MBTL3 | ||
| REACTOME: L3MBTL3 | ||
| Pathway Commons: L3MBTL3 | ||
| Context | iHOP: L3MBTL3 | |
| ligand binding site mutation search in PubMed: L3MBTL3 | ||
| UCL Cancer Institute: L3MBTL3 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 L3MBTL3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N384 | K383N | BLCA | 1 | D274 | V273L | HNSC | 1 | N407 | N407S | HNSC | 1 | F387 | S386L | LUAD | 1 | D274 | D274Y | LUSC | 1 | W428 | G427D | STAD | 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 L3MBTL3 |
| 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 | N384 | K383N | -1.1726595 | W428 | G427D | -0.96905166 | N407 | N407S | -0.92429647 | D274 | V273L | -0.8578198 | F387 | S386L | -0.36864831 | D274 | D274Y | -0.002196762 |
| (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 L3MBTL3 from PDB |
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| Differential gene expression and gene-gene network for L3MBTL3 |
| 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 L3MBTL3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0025149 | Medulloblastoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for L3MBTL3 |
| 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 L3MBTL3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | UWN | [2-(PHENYLAMINO)BENZENE-1,4-DIYL]BIS{[4-(PYRROLIDIN-1-YL)PIPERIDIN-1-YL]METHANONE} | 4fl6 | A | D274 | UWN | [2-(PHENYLAMINO)BENZENE-1,4-DIYL]BIS{[4-(PYRROLIDIN-1-YL)PIPERIDIN-1-YL]METHANONE} | 4fl6 | B | D274 | 1VZ | 4-(PYRROLIDIN-1-YL)-1-{4-[2-(PYRROLIDIN-1-YL) ETHYL]PHENYL}PIPERIDINE | 4l59 | A | D274 | UWN | [2-(PHENYLAMINO)BENZENE-1,4-DIYL]BIS{[4-(PYRROLIDIN-1-YL)PIPERIDIN-1-YL]METHANONE} | 4fl6 | A | N384 F387 | UWN | [2-(PHENYLAMINO)BENZENE-1,4-DIYL]BIS{[4-(PYRROLIDIN-1-YL)PIPERIDIN-1-YL]METHANONE} | 4fl6 | B | N384 F387 | CO | COBALT(2+) | 3ut1 | A | N407 | CO | COBALT(2+) | 3ut1 | A | W428 |
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| Conservation information for LBS of L3MBTL3 |
| Multiple alignments for Q96JM7 in multiple species |
| LBS | AA sequence | # species | Species |
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