mutLBSgeneDB |
Gene summary for MLLT4 |
Gene summary |
Basic gene Info. | Gene symbol | MLLT4 |
Gene name | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 | |
Synonyms | AF6 | |
Cytomap | UCSC genome browser: 6q27 | |
Type of gene | protein-coding | |
RefGenes | NM_001040000.2, NM_001207008.1,NM_001291964.1,NM_001040001.1,NM_005936.2, | |
Description | ALL1-fused gene from chromosome 6 proteinafadinprotein AF-6 | |
Modification date | 20141207 | |
dbXrefs | MIM : 159559 | |
HGNC : HGNC | ||
Ensembl : ENSG00000130396 | ||
HPRD : 01164 | ||
Vega : OTTHUMG00000016031 | ||
Protein | UniProt: P55196 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MLLT4 | |
BioGPS: 4301 | ||
Pathway | NCI Pathway Interaction Database: MLLT4 | |
KEGG: MLLT4 | ||
REACTOME: MLLT4 | ||
Pathway Commons: MLLT4 | ||
Context | iHOP: MLLT4 | |
ligand binding site mutation search in PubMed: MLLT4 | ||
UCL Cancer Institute: MLLT4 | ||
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 MLLT4 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | K1038 | R1039T | BLCA | 1 | V1041 | S1041I | KIRC | 1 | A1075 | R1076C | LUSC | 1 | A1075 | R1076C | UCEC | 1 | V1023 | R1023Q | UCEC | 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 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. |
LBS | AAchange of nsSNV | Relative 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) |
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Phenotype information for MLLT4 |
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 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 status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB08574 | (5R)-2-SULFANYL-5-[4-(TRIFLUOROMETHYL)BENZYL]-1,3-THIAZOL-4-ONE | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of MLLT4 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 MLLT4 |
Multiple alignments for P55196 in multiple species |
LBS | AA sequence | # species | Species | A1024 | GLSIVAAKGAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A1025 | LSIVAAKGAGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A1075 | SQERAAELMTR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G1019 | KQNGMGLSIVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I1022 | GMGLSIVAAKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K1038 | LGIYVKSVVKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L1020 | QNGMGLSIVAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M1018 | KKQNGMGLSIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M1078 | RAAELMTRTSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q1071 | LVGLSQERAAE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S1021 | NGMGLSIVAAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T1079 | AAELMTRTSSV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V1023 | MGLSIVAAKGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V1041 | YVKSVVKGGAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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