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 CHAT
Gene summary
Basic gene Info.Gene symbolCHAT
Gene namecholine O-acetyltransferase
CytomapUCSC genome browser: 10q11.2
Type of geneprotein-coding
Descriptionacetyl CoA:choline O-acetyltransferasecholine acetylase
Modification date20141219
dbXrefs MIM : 118490
Ensembl : ENSG00000070748
HPRD : 07510
Vega : OTTHUMG00000018198
ProteinUniProt: P28329
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CHAT
BioGPS: 1103
PathwayNCI Pathway Interaction Database: CHAT
Pathway Commons: CHAT
ContextiHOP: CHAT
ligand binding site mutation search in PubMed: CHAT
UCL Cancer Institute: CHAT
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for CHAT

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for CHAT
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 CHAT from PDB

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


Phenotype information for CHAT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0393929Congenital myasthenic syndrome with episodic apnea3Biomarker, GeneticVariation

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

Pharmacological information for CHAT
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
ApprovedDB00184NicotineSmall molecule

Gene-centered ligand-gene interaction network

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

Conservation information for LBS of CHAT
Multiple alignments for P28329 in multiple species
LBSAA sequence# speciesSpecies
A557PTYESASIRRF3Homo sapiens, Danio rerio, Gallus gallus
A557STYESASVRRF1Caenorhabditis elegans
A557ATYESASTRRF1Drosophila melanogaster
C529IKKQKCSPDAF1Homo sapiens
C529IKNWRVSPDGF1Caenorhabditis elegans
C529IKSCQVSPDVY1Drosophila melanogaster
C529IKRQKMSPDAY1Danio rerio
C529IKKQKTSPDAY1Gallus gallus
C668TTEMFCCY---1Homo sapiens
C668SLDIPDCYLTY1Caenorhabditis elegans
C668STDSFMGY---1Drosophila melanogaster
C668TEEMFCCY---1Danio rerio
C668PMEMFCCY---1Gallus gallus
D446EHSPFDGIVLV2Homo sapiens, Gallus gallus
D446EHSTAEGIVII1Caenorhabditis elegans
D446EHSCSEGIAVV1Drosophila melanogaster
D446EHSPFEGIVLV1Danio rerio
D532QKCSPDAFIQV1Homo sapiens
D532WRVSPDGFIQL1Caenorhabditis elegans
D532CQVSPDVYIQL1Drosophila melanogaster
D532QKMSPDAYVQV1Danio rerio
D532QKTSPDAYIQV1Gallus gallus
E555LVPTYESASIR3Homo sapiens, Danio rerio, Gallus gallus
E555LVSTYESASVR1Caenorhabditis elegans
E555LVATYESASTR1Drosophila melanogaster
G261TDCAKGQLSGQ1Homo sapiens
G261REKSTGAQKLQ1Caenorhabditis elegans
G261LERAASREKNQ1Drosophila melanogaster
G261VEHARGQLAGT1Danio rerio
G261VDFARGQLSGQ1Gallus gallus
G447HSPFDGIVLVQ2Homo sapiens, Gallus gallus
G447HSTAEGIVIIN1Caenorhabditis elegans
G447HSCSEGIAVVQ1Drosophila melanogaster
G447HSPFEGIVLVQ1Danio rerio
H442GVVCEHSPFDG1Homo sapiens
H442GLCIEHSTAEG1Caenorhabditis elegans
H442GLCYEHSCSEG1Drosophila melanogaster
H442GVVCEHSPFEG1Danio rerio
H442GTVCEHSPFDG1Gallus gallus
I448SPFDGIVLVQC2Homo sapiens, Gallus gallus
I448STAEGIVIINM1Caenorhabditis elegans
I448SCSEGIAVVQL1Drosophila melanogaster
I448SPFEGIVLVQC1Danio rerio
I570GRVDNIRSATP1Homo sapiens
I570GRVDNIRANTQ1Caenorhabditis elegans
I570GRVDCIRAAST1Drosophila melanogaster
I570GRVDNIRSSTP1Danio rerio
I570GRVDNIRSATA1Gallus gallus
K521FDNYGKTFIKK1Homo sapiens
K521FNEFGKDSIKN1Caenorhabditis elegans
K521YQSYGKTFIKS1Drosophila melanogaster
K521FTGYGKEFIKR1Danio rerio
K521FVNYGKEFIKK1Gallus gallus
K525GKTFIKKQKCS1Homo sapiens
K525GKDSIKNWRVS1Caenorhabditis elegans
K525GKTFIKSCQVS1Drosophila melanogaster
K525GKEFIKRQKMS1Danio rerio
K525GKEFIKKQKTS1Gallus gallus
K528FIKKQKCSPDA1Homo sapiens
K528SIKNWRVSPDG1Caenorhabditis elegans
K528FIKSCQVSPDV1Drosophila melanogaster
K528FIKRQKMSPDA1Danio rerio
K528FIKKQKTSPDA1Gallus gallus
M202YWLNDMYLNNR1Homo sapiens
M202FWLPEMYMRVR1Caenorhabditis elegans
M202YWLNEMYMDIR1Drosophila melanogaster
M202YWLEDMYLNNR1Danio rerio
M202YWLDDMYLNNR1Gallus gallus
P216PVNSSPAVIFA1Homo sapiens
P216PVNSNPGYIFP1Caenorhabditis elegans
P216PINSNPGMVFP1Drosophila melanogaster
P216PVNSSPVMVFH1Danio rerio
P216PVNSSPAIIFA1Gallus gallus
P531KQKCSPDAFIQ1Homo sapiens
P531NWRVSPDGFIQ1Caenorhabditis elegans
P531SCQVSPDVYIQ1Drosophila melanogaster
P531RQKMSPDAYVQ1Danio rerio
P531KQKTSPDAYIQ1Gallus gallus
Q262DCAKGQLSGQP1Homo sapiens
Q262EKSTGAQKLQ-1Caenorhabditis elegans
Q262ERAASREKNQP1Drosophila melanogaster
Q262EHARGQLAGTP1Danio rerio
Q262DFARGQLSGQP1Gallus gallus
Q659VLSTSQVPTTT1Homo sapiens
Q659PLSTSQVTTSL1Caenorhabditis elegans
Q659LLSTSQVACST1Drosophila melanogaster
Q659TLSTSQVPTTE1Danio rerio
Q659ILSTSQVPTPM1Gallus gallus
S530KKQKCSPDAFI1Homo sapiens
S530KNWRVSPDGFI1Caenorhabditis elegans
S530KSCQVSPDVYI1Drosophila melanogaster
S530KRQKMSPDAYV1Danio rerio
S530KKQKTSPDAYI1Gallus gallus
S556VPTYESASIRR3Homo sapiens, Danio rerio, Gallus gallus
S556VSTYESASVRR1Caenorhabditis elegans
S556VATYESASTRR1Drosophila melanogaster
S558TYESASIRRFQ2Homo sapiens, Danio rerio
S558TYESASVRRFG1Caenorhabditis elegans
S558TYESASTRRFL1Drosophila melanogaster
S558TYESASIRRFD1Gallus gallus
S656NRFVLSTSQVP1Homo sapiens
S656MRFPLSTSQVT1Caenorhabditis elegans
S656QCFLLSTSQVA1Drosophila melanogaster
S656IHFTLSTSQVP1Danio rerio
S656NRFILSTSQVP1Gallus gallus
T611AQTNYTILAIT2Danio rerio, Gallus gallus
T611AQTAYTVMAIT1Homo sapiens
T611KQVKVTLENIS1Caenorhabditis elegans
T611RQTEVMVKNIL1Drosophila melanogaster
T657RFVLSTSQVPT1Homo sapiens
T657RFPLSTSQVTT1Caenorhabditis elegans
T657CFLLSTSQVAC1Drosophila melanogaster
T657HFTLSTSQVPT1Danio rerio
T657RFILSTSQVPT1Gallus gallus
V660LSTSQVPTTTE1Homo sapiens
V660LSTSQVTTSLD1Caenorhabditis elegans
V660LSTSQVACSTD1Drosophila melanogaster
V660LSTSQVPTTEE1Danio rerio
V660LSTSQVPTPME1Gallus gallus
Y554RLVPTYESASI3Homo sapiens, Danio rerio, Gallus gallus
Y554HLVSTYESASV1Caenorhabditis elegans
Y554RLVATYESAST1Drosophila melanogaster
Y670EMFCCY---GP3Homo sapiens, Danio rerio, Gallus gallus
Y670DIPDCYLTYGA1Caenorhabditis elegans
Y670DSFMGY---GP1Drosophila melanogaster

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