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 CHD1
Gene summary
Basic gene Info.Gene symbolCHD1
Gene namechromodomain helicase DNA binding protein 1
Synonyms-
CytomapUCSC genome browser: 5q15-q21
Type of geneprotein-coding
RefGenesNM_001270.2,
DescriptionATP-dependent helicase CHD1CHD-1chromodomain-helicase-DNA-binding protein 1
Modification date20141207
dbXrefs MIM : 602118
HGNC : HGNC
Ensembl : ENSG00000153922
HPRD : 03668
Vega : OTTHUMG00000162744
ProteinUniProt: O14646
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CHD1
BioGPS: 1105
PathwayNCI Pathway Interaction Database: CHD1
KEGG: CHD1
REACTOME: CHD1
Pathway Commons: CHD1
ContextiHOP: CHD1
ligand binding site mutation search in PubMed: CHD1
UCL Cancer Institute: CHD1
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 CHD1
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
W322W322LLUAD1
T331W332SLUSC1
H329H329RUCEC1
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 CHD1
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
W322W322L-1.3289925
T331W332S-1.026393
H329H329R-0.94167972
(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 CHD1 from PDB

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Differential gene expression and gene-gene network for CHD1
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 CHD1 and the right PPI network was created from samples without mutations in the LBS of CHD1. 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 CHD1
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 CHD1
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
ApprovedDB00445EpirubicinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CHD1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ARG,THR,ALA,ARG,SER,LYS,VAL)4nw2CW322 H329
IIIPeptide ligand (THR,SER,ARG,ARG,LYS,ARG,ALA)5afwAW322 H329
IIIPeptide ligand (ARG,THR,ALA,ARG,SER,LYS,VAL)4nw2AW322 H329 T331
IIIPeptide ligand (ARG,THR,ALA,ARG,SER,LYS,VAL)4o42AW322 H329 T331


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Conservation information for LBS of CHD1
Multiple alignments for O14646 in multiple species
LBSAA sequence# speciesSpecies
A290KGATGATTTIY2Homo sapiens, Mus musculus
A290TSLEEGKVLEK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A290EGHDG------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A290ADAQD------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D408AAGYPD--YYC1Homo sapiens
D408AAGLPD--YYC1Mus musculus
D408EDGTSQLQYLV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D408SDGSVE--YLV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D408EEGKTE--YFV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D425ECSWEDGALIS2Homo sapiens, Mus musculus
D425EATWENATDIV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D425FCTWEASSIIE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D425NCTWEDADVIY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E272EEEEFETIERF1Homo sapiens
E272EDEEFETIERV1Mus musculus
E272QPEDFHGIDIV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E272EPEDTRAIDVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E272EEEYEPIIDFV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E424SECSWEDGALI2Homo sapiens, Mus musculus
E424DEATWENATDI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E424DFCTWEASSII1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E424DNCTWEDADVI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G324LIKWKGWSHIH2Homo sapiens, Mus musculus
G324LIKWTDESHLH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G324LIKWVNFSHLH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G324LIKWQEVSHLH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H329GWSHIHNTWET2Homo sapiens, Mus musculus
H329DESHLHNTWET1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H329NFSHLHCTWEP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H329EVSHLHNTWED1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K431GALISKKFQAC1Homo sapiens
K431GALISKKFQTC1Mus musculus
K431ATDIVKLAPEQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K431SSIIEPIAATE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K431ADVIYSMAPNE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L428WEDGALISKKF2Homo sapiens, Mus musculus
L428WENATDIVKLA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L428WEASSIIEPIA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L428WEDADVIYSMA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T293TGATTTIYAVE2Homo sapiens, Mus musculus
T293EEGKVLEKTVP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T293DG---------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T293QD---------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T331SHIHNTWETEE2Homo sapiens, Mus musculus
T331SHLHNTWETYE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T331SHLHCTWEPYN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T331SHLHNTWEDYS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W322QYLIKWKGWSH2Homo sapiens, Mus musculus
W322-FLIKWTDESH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W322-FLIKWVNFSH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W322-YLIKWQEVSH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W325IKWKGWSHIHN2Homo sapiens, Mus musculus
W325IKWTDESHLHN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W325IKWVNFSHLHC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W325IKWQEVSHLHN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W423YSECSWEDGAL2Homo sapiens, Mus musculus
W423YDEATWENATD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W423YDFCTWEASSI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W423YDNCTWEDADV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y295ATTTIYAVEAD2Homo sapiens, Mus musculus
Y295-----------2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y295GKVLEKTVPDL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)


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