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 TAL1
Gene summary
Basic gene Info.Gene symbolTAL1
Gene nameT-cell acute lymphocytic leukemia 1
SynonymsSCL|TCL5|bHLHa17|tal-1
CytomapUCSC genome browser: 1p32
Type of geneprotein-coding
RefGenesNM_001287347.2,
NM_001290403.1,NM_001290404.1,NM_001290405.1,NM_001290406.1,
NM_003189.5,
DescriptionT-cell acute lymphocytic leukemia protein 1T-cell leukemia/lymphoma protein 5class A basic helix-loop-helix protein 17stem cell proteintal-1 product
Modification date20141207
dbXrefs MIM : 187040
HGNC : HGNC
Ensembl : ENSG00000162367
HPRD : 01753
Vega : OTTHUMG00000007847
ProteinUniProt: P17542
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TAL1
BioGPS: 6886
PathwayNCI Pathway Interaction Database: TAL1
KEGG: TAL1
REACTOME: TAL1
Pathway Commons: TAL1
ContextiHOP: TAL1
ligand binding site mutation search in PubMed: TAL1
UCL Cancer Institute: TAL1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0031334positive regulation of protein complex assembly20855495
GO:0045648positive regulation of erythrocyte differentiation20028976
GO:0045893positive regulation of transcription, DNA-templated20028976
GO:0045944positive regulation of transcription from RNA polymerase II promoter20855495


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Ligand binding site mutations for TAL1
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
LBSAAchange of nsSNVCancer type# samples
N193,R195S194RLUSC1
N204A206DSKCM1
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 TAL1
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
N204A206D-1.2166225
N193S194R-0.070081418
R195S194R-0.070081418
(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 TAL1 from PDB

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Differential gene expression and gene-gene network for TAL1
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 TAL1 and the right PPI network was created from samples without mutations in the LBS of TAL1. 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 TAL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma73Biomarker

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

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Pharmacological information for TAL1
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TAL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids2ypaAN193 N204
NUCNucleic Acids2ypbAN193 N204
NUCNucleic Acids2ypaAR195
NUCNucleic Acids2ypbAR195


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Conservation information for LBS of TAL1
Multiple alignments for P17542 in multiple species
LBSAA sequence# speciesSpecies
E196FTNSRERWRQQ4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
K225DKKLSKNEILR4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
N193RRIFTNSRERW4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
N204RQQNVNGAFAE4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
Q201ERWRQQNVNGA4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
R189TKVVRRIFTNS3Homo sapiens, Gallus gallus, Mus musculus
R189PKIVRRIFTNS1Danio rerio
R195IFTNSRERWRQ4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
R197TNSRERWRQQN4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
R199SRERWRQQNVN4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus
S224PDKKLSKNEIL4Homo sapiens, Danio rerio, Gallus gallus, Mus musculus


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