mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for MLLT4
Gene summary
Basic gene Info.Gene symbolMLLT4
Gene namemyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
SynonymsAF6
CytomapUCSC genome browser: 6q27
Type of geneprotein-coding
RefGenesNM_001040000.2,
NM_001207008.1,NM_001291964.1,NM_001040001.1,NM_005936.2,
DescriptionALL1-fused gene from chromosome 6 proteinafadinprotein AF-6
Modification date20141207
dbXrefs MIM : 159559
HGNC : HGNC
Ensembl : ENSG00000130396
HPRD : 01164
Vega : OTTHUMG00000016031
ProteinUniProt: P55196
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MLLT4
BioGPS: 4301
PathwayNCI Pathway Interaction Database: MLLT4
KEGG: MLLT4
REACTOME: MLLT4
Pathway Commons: MLLT4
ContextiHOP: MLLT4
ligand binding site mutation search in PubMed: MLLT4
UCL Cancer Institute: MLLT4
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for MLLT4

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K1038R1039TBLCA1
V1041S1041IKIRC1
A1075R1076CLUSC1
A1075R1076CUCEC1
V1023R1023QUCEC1
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 MLLT4
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.
LBSAAchange of nsSNVRelative stability change
(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 MLLT4 from PDB

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Differential gene expression and gene-gene network for MLLT4
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)
* Left PPI network was created from samples with mutations in the LBS of MLLT4 and the right PPI network was created from samples without mutations in the LBS of MLLT4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for MLLT4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for MLLT4
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB08574(5R)-2-SULFANYL-5-[4-(TRIFLUOROMETHYL)BENZYL]-1,3-THIAZOL-4-ONESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MLLT4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of MLLT4
Multiple alignments for P55196 in multiple species
LBSAA sequence# speciesSpecies
A1024GLSIVAAKGAG3Homo sapiens, Mus musculus, Rattus norvegicus
A1025LSIVAAKGAGQ3Homo sapiens, Mus musculus, Rattus norvegicus
A1075SQERAAELMTR3Homo sapiens, Mus musculus, Rattus norvegicus
G1019KQNGMGLSIVA3Homo sapiens, Mus musculus, Rattus norvegicus
I1022GMGLSIVAAKG3Homo sapiens, Mus musculus, Rattus norvegicus
K1038LGIYVKSVVKG3Homo sapiens, Mus musculus, Rattus norvegicus
L1020QNGMGLSIVAA3Homo sapiens, Mus musculus, Rattus norvegicus
M1018KKQNGMGLSIV3Homo sapiens, Mus musculus, Rattus norvegicus
M1078RAAELMTRTSS3Homo sapiens, Mus musculus, Rattus norvegicus
Q1071LVGLSQERAAE3Homo sapiens, Mus musculus, Rattus norvegicus
S1021NGMGLSIVAAK3Homo sapiens, Mus musculus, Rattus norvegicus
T1079AAELMTRTSSV3Homo sapiens, Mus musculus, Rattus norvegicus
V1023MGLSIVAAKGA3Homo sapiens, Mus musculus, Rattus norvegicus
V1041YVKSVVKGGAA3Homo sapiens, Mus musculus, Rattus norvegicus


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