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 CHIT1
Gene summary
Basic gene Info.Gene symbolCHIT1
Gene namechitinase 1 (chitotriosidase)
SynonymsCHI3|CHIT|CHITD
CytomapUCSC genome browser: 1q32.1
Type of geneprotein-coding
RefGenesNM_001256125.1,
NM_001270509.1,NM_003465.2,NR_045784.1,NR_045785.1,
Descriptionchitotriosidase-1plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase
Modification date20141207
dbXrefs MIM : 600031
HGNC : HGNC
Ensembl : ENSG00000133063
HPRD : 02494
Vega : OTTHUMG00000042126
ProteinUniProt: Q13231
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CHIT1
BioGPS: 1118
PathwayNCI Pathway Interaction Database: CHIT1
KEGG: CHIT1
REACTOME: CHIT1
Pathway Commons: CHIT1
ContextiHOP: CHIT1
ligand binding site mutation search in PubMed: CHIT1
UCL Cancer Institute: CHIT1
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
GO:0006032chitin catabolic process19725875


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Ligand binding site mutations for CHIT1
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
D108M109KBLCA1
E38R40CBLCA1
E38R40CCOAD1
E140,D138W139LHNSC1
E38A39VLUAD1
H215G216CLUSC1
F58G60DLUSC1
P185P185QLUSC1
D108D108NSKCM1
R269R269CSKCM1
E297E297KSKCM1
H215G216DUCEC1
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 CHIT1
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
D108M109K-1.5193798
R269R269C-1.2946314
F58G60D-0.81552376
D108D108N-0.72908284
E297E297K-0.71653446
E38R40C-0.52232541
E38A39V-0.43034868
D138W139L-0.41286687
E140W139L-0.41286687
H215G216D-0.38831016
H215G216C-0.13103811
P185P185Q-0.13040737
(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 CHIT1 from PDB

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Differential gene expression and gene-gene network for CHIT1
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 CHIT1 and the right PPI network was created from samples without mutations in the LBS of CHIT1. 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 CHIT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017205Gaucher Disease3AlteredExpression, Biomarker, GeneticVariation

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

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Pharmacological information for CHIT1
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
ApprovedDB02325Isopropyl AlcoholSmall molecule
ExperimentalDB03109N-Acetyl-D-AllosamineSmall molecule
ExperimentalDB035392-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-AllopyranoseSmall molecule
ExperimentalDB03632ArgifinSmall molecule
ExperimentalDB04350ArgadinSmall molecule
ExperimentalDB04404AllosamizolineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CHIT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)1hkkAD108
ALIMETHYL N-ACETYL ALLOSAMINE1hkiAD138 E140
AMIALLOSAMIZOLINE1hkjAD138 E140
AMIALLOSAMIZOLINE1hkkAD138 E140
ALIMETHYL N-ACETYL ALLOSAMINE1hkmAD138 E140
EDOETHYLENE GLYCOL1lg2AD138 E140
VR0N~5~-[N-(METHYLCARBAMOYL)CARBAMIMIDOYL]-L-ORNITHINE1wb0AD138 E140 R269
IIIPeptide ligand (0AR,DPR,ASP,HIS,UN1)1wawAD138 E140 R269 E297
NA12-(ACETYLAMINO)-2-DEOXY-6-O-METHYL-ALPHA-D-ALLOPYRANOSE1hkiAE297
NA12-(ACETYLAMINO)-2-DEOXY-6-O-METHYL-ALPHA-D-ALLOPYRANOSE1hkjAE297
EDOETHYLENE GLYCOL1lg2AE38
CBSN-ACETYL-BETA-D-GLUCOSAMINYL-(1->4)-N-ACETYL-BETA-D-GLUCOSAMINE4wk9AF58 D138 E140 R269 E297
CBSN-ACETYL-BETA-D-GLUCOSAMINYL-(1->4)-N-ACETYL-BETA-D-GLUCOSAMINE4wkfAF58 D138 E140 R269 E297
CBSN-ACETYL-BETA-D-GLUCOSAMINYL-(1->4)-N-ACETYL-BETA-D-GLUCOSAMINE4wkhAF58 D138 E140 R269 E297
EDOETHYLENE GLYCOL1lg2AF58 E140
ZNZINC(2+)1hkkAH215
EDOETHYLENE GLYCOL1lg2AP185
EDOETHYLENE GLYCOL1lg2AR269


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Conservation information for LBS of CHIT1
Multiple alignments for Q13231 in multiple species
LBSAA sequence# speciesSpecies
A183LLLSAAVPAGQ1Homo sapiens
A183LLVTAAVAAGP1Caenorhabditis elegans
A183LLLTAAVPSDR1Mus musculus
A186SAAVPAGQTYV1Homo sapiens
A186TAAVAAGPATI1Caenorhabditis elegans
A186TAAVPSDRGLV1Mus musculus
A366LDDF-AGFSCN1Homo sapiens
A366FDDFNAGCSNS1Caenorhabditis elegans
A366LDDF-KGSFCN1Mus musculus
D108TQKFTDMVATA2Homo sapiens, Mus musculus
D108TALFQGMAASS1Caenorhabditis elegans
D138DGLDLDWEYPG1Homo sapiens
D138DGIDIDWEYPS1Caenorhabditis elegans
D138DGLDLDWEFPG1Mus musculus
D213NLMAYDFHGSW1Homo sapiens
D213LLMSYDFFGAW1Caenorhabditis elegans
D213NLMAYDFHSSL1Mus musculus
D364ALDLDDF-AGF1Homo sapiens
D364TLDFDDFNAGC1Caenorhabditis elegans
D364VLDLDDF-KGS1Mus musculus
E140LDLDWEYPGSQ1Homo sapiens
E140IDIDWEYPSG-1Caenorhabditis elegans
E140LDLDWEFPGGR1Mus musculus
E219FHGSWEKVTGH1Homo sapiens
E219FFGAWASLVGF1Caenorhabditis elegans
E219FHSSLEKTTGH1Mus musculus
E297GPFTKEGGMLA1Homo sapiens
E297TQYVQEAGVGA1Caenorhabditis elegans
E297GPYTKDKGVLA1Mus musculus
E38QYRQGEARFLP1Homo sapiens
E38QYRQGRAKFVP1Caenorhabditis elegans
E38QYRTEAVRFFP1Mus musculus
F101IGGWNFGTQKF1Homo sapiens
F101FGGWSFGTALF1Caenorhabditis elegans
F101VGGWTFGTQKF1Mus musculus
F365LDLDDF-AGFS1Homo sapiens
F365LDFDDFNAGCS1Caenorhabditis elegans
F365LDLDDF-KGSF1Mus musculus
F368DF-AGFSCNQG1Homo sapiens
F368DFNAGCSNSNG1Caenorhabditis elegans
F368DF-KGSFCNQG1Mus musculus
F58HLIYAFAGMT-1Homo sapiens
F58HILFAFGWMNA1Caenorhabditis elegans
F58HVIFAFAGMD-1Mus musculus
G187AAVPAGQTYVD1Homo sapiens
G187AAVAAGPATID1Caenorhabditis elegans
G187AAVPSDRGLVD1Mus musculus
G367DDF-AGFSCNQ1Homo sapiens
G367DDFNAGCSNSN1Caenorhabditis elegans
G367DDF-KGSFCNQ1Mus musculus
G98LLAIGGWNFGT1Homo sapiens
G98LLSFGGWSFGT1Caenorhabditis elegans
G98LLAVGGWTFGT1Mus musculus
H215MAYDFHGSWEK1Homo sapiens
H215MSYDFFGAWAS1Caenorhabditis elegans
H215MAYDFHSSLEK1Mus musculus
H64GMT-NHQLST-1Homo sapiens
H64WMNADYTVRAY1Caenorhabditis elegans
H64GMD-NHQLST-1Mus musculus
L362VWALDLDDF-A1Homo sapiens
L362VWTLDFDDFNA1Caenorhabditis elegans
L362VWVLDLDDF-K1Mus musculus
M210DFVNLMAYDFH1Homo sapiens
M210DFILLMSYDFF1Caenorhabditis elegans
M210DFINLMAYDFH1Mus musculus
M300TKEGGMLAYYE1Homo sapiens
M300VQEAGVGAYFE1Caenorhabditis elegans
M300TKDKGVLAYYE1Mus musculus
M356GLGGAMVWALD1Homo sapiens
M356GYGGAFVWTLD1Caenorhabditis elegans
M356GLGGAMVWVLD1Mus musculus
N100AIGGWNFGTQK1Homo sapiens
N100SFGGWSFGTAL1Caenorhabditis elegans
N100AVGGWTFGTQK1Mus musculus
P185LSAAVPAGQTY1Homo sapiens
P185VTAAVAAGPAT1Caenorhabditis elegans
P185LTAAVPSDRGL1Mus musculus
Q145EYPGSQGSPAV1Homo sapiens
Q145EYPSG----AT1Caenorhabditis elegans
Q145EFPGGRGSPTV1Mus musculus
R269MPTYGRSFTLA2Homo sapiens, Mus musculus
R269MPTYGRGWTLN1Caenorhabditis elegans
R35NWAQYRQGEAR1Homo sapiens
R35NWAQYRQGRAK1Caenorhabditis elegans
R35NWSQYRTEAVR1Mus musculus
S369F-AGFSCNQGR1Homo sapiens
S369FNAGCSNSNGQ1Caenorhabditis elegans
S369F-KGSFCNQGP1Mus musculus
W218DFHGSWEKVTG1Homo sapiens
W218DFFGAWASLVG1Caenorhabditis elegans
W218DFHSSLEKTTG1Mus musculus
W31CYFTNWAQYRQ2Homo sapiens, Caenorhabditis elegans
W31CYLTNWSQYRT1Mus musculus
W358GGAMVWALDLD1Homo sapiens
W358GGAFVWTLDFD1Caenorhabditis elegans
W358GGAMVWVLDLD1Mus musculus
W99LAIGGWNFGTQ1Homo sapiens
W99LSFGGWSFGTA1Caenorhabditis elegans
W99LAVGGWTFGTQ1Mus musculus
Y141DLDWEYPGSQG1Homo sapiens
Y141DIDWEYPSG--1Caenorhabditis elegans
Y141DLDWEFPGGRG1Mus musculus
Y190PAGQTYVDAGY1Homo sapiens
Y190AAGPATIDAGY1Caenorhabditis elegans
Y190PSDRGLVDAGY1Mus musculus
Y212VNLMAYDFHGS1Homo sapiens
Y212ILLMSYDFFGA1Caenorhabditis elegans
Y212INLMAYDFHSS1Mus musculus
Y267LGMPTYGRSFT2Homo sapiens, Mus musculus
Y267VGMPTYGRGWT1Caenorhabditis elegans
Y27----CYFTNWA1Homo sapiens
Y27YIRPCYFTNWA1Caenorhabditis elegans
Y27----CYLTNWS1Mus musculus


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