mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 CHIA
Gene summary
Basic gene Info.Gene symbolCHIA
Gene namechitinase, acidic
SynonymsAMCASE|CHIT2|TSA1902
CytomapUCSC genome browser: 1p13.2
Type of geneprotein-coding
RefGenesNM_001040623.2,
NM_001258001.1,NM_001258002.1,NM_001258003.1,NM_001258004.1,
NM_001258005.1,NM_021797.3,NM_201653.3,
Descriptionacidic mammalian chitinaselung-specific protein TSA1902
Modification date20141207
dbXrefs MIM : 606080
HGNC : HGNC
Ensembl : ENSG00000134216
HPRD : 09355
Vega : OTTHUMG00000011165
ProteinUniProt: Q9BZP6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CHIA
BioGPS: 27159
PathwayNCI Pathway Interaction Database: CHIA
KEGG: CHIA
REACTOME: CHIA
Pathway Commons: CHIA
ContextiHOP: CHIA
ligand binding site mutation search in PubMed: CHIA
UCL Cancer Institute: CHIA
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:0002532production of molecular mediator involved in inflammatory response18824549
GO:0006032chitin catabolic process19435888
GO:0090197positive regulation of chemokine secretion18824549


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Ligand binding site mutations for CHIA
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
D213L214ICOAD1
Y267P265TKIRC1
I300G299WLUAD1
D138D136YLUAD1
W31A32DPRAD1
W218G220SSKCM1
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 CHIA
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
D213L214I-1.5397806
W218G220S-1.3921553
W31A32D-0.74305762
Y267P265T-0.55228355
D138D136Y-0.14055917
I300G299W-0.08332387
(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 CHIA from PDB

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Differential gene expression and gene-gene network for CHIA
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 CHIA and the right PPI network was created from samples without mutations in the LBS of CHIA. 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 CHIA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0000786Abortion, Spontaneous1Biomarker

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

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Pharmacological information for CHIA
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CHIA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
AMIALLOSAMIZOLINE3fy1AD138 D213 Y267
AMIALLOSAMIZOLINE3fy1BD138 D213 Y267
3RM5-{4-[2-(4-BROMOPHENOXY)ETHYL]PIPERAZIN-1-YL}-4H-1,2,4-TRIAZOL-3-AMINE3rm4AD138 D213 Y267 I300
3RM5-{4-[2-(4-BROMOPHENOXY)ETHYL]PIPERAZIN-1-YL}-4H-1,2,4-TRIAZOL-3-AMINE3rm4BD138 D213 Y267 I300
RM82-METHYL-3-{[4-(PYRIDIN-2-YL)PIPERAZIN-1-YL]METHYL}-1H-INDOLE3rm8AD138 D213 Y267 I300
RM82-METHYL-3-{[4-(PYRIDIN-2-YL)PIPERAZIN-1-YL]METHYL}-1H-INDOLE3rm8BD138 D213 Y267 I300
DW0BISDIONIN C2ybtCD213 W218
6134-(4-CHLOROPHENYL)PIPERAZINE-1-CARBOXIMIDAMIDE3rm9AD213 Y267 I300
6134-(4-CHLOROPHENYL)PIPERAZINE-1-CARBOXIMIDAMIDE3rm9BD213 Y267 I300
DW0BISDIONIN C2ybtAW218
DW0BISDIONIN C2ybtBW218
DW0BISDIONIN C2ybtDW218
DW0BISDIONIN C2ybtEW218
DW0BISDIONIN C2ybtFW218
CX9BISDIONIN F2ybuAW218
CX9BISDIONIN F2ybuBW218
CX9BISDIONIN F2ybuCW218
CX9BISDIONIN F2ybuDW218
CX9BISDIONIN F2ybuEW218
CX9BISDIONIN F2ybuFW218
NA12-(ACETYLAMINO)-2-DEOXY-6-O-METHYL-ALPHA-D-ALLOPYRANOSE3fy1AW31
NA12-(ACETYLAMINO)-2-DEOXY-6-O-METHYL-ALPHA-D-ALLOPYRANOSE3fy1BW31
RMENICOTINAMIDE3rmeAW31 D138 D213 Y267 I300
RMENICOTINAMIDE3rmeBW31 D138 D213 Y267 I300
DW0BISDIONIN C2ybtAW31 D138 Y267
DW0BISDIONIN C2ybtBW31 D138 Y267
DW0BISDIONIN C2ybtCW31 D138 Y267
DW0BISDIONIN C2ybtDW31 D138 Y267
DW0BISDIONIN C2ybtEW31 D138 Y267
DW0BISDIONIN C2ybtFW31 D138 Y267
CX9BISDIONIN F2ybuAW31 D138 Y267
CX9BISDIONIN F2ybuBW31 D138 Y267
CX9BISDIONIN F2ybuCW31 D138 Y267
CX9BISDIONIN F2ybuDW31 D138 Y267
CX9BISDIONIN F2ybuEW31 D138 Y267
CX9BISDIONIN F2ybuFW31 D138 Y267


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Conservation information for LBS of CHIA
Multiple alignments for Q9BZP6 in multiple species
LBSAA sequence# speciesSpecies
A183LMVTAAVAAGI2Homo sapiens, Rattus norvegicus
A183LLVTAAVAAGI1Bos taurus
A183LMVTAAVAGGI1Mus musculus
A295PAGPYTRQAGF2Mus musculus, Rattus norvegicus
A295PAGPYAKESGI1Homo sapiens
A295PAGPYTREAGF1Bos taurus
D138DGLDFDWEYPG2Homo sapiens, Bos taurus
D138DGLDLDWEYPG2Mus musculus, Rattus norvegicus
D213HVMTYDLHGSW3Homo sapiens, Mus musculus, Rattus norvegicus
D213HVMTYDFHGSW1Bos taurus
E140LDLDWEYPGSR2Mus musculus, Rattus norvegicus
E140LDFDWEYPGSR1Homo sapiens
E140LDFDWEYPGFR1Bos taurus
E297GPYTRQAGFWA2Mus musculus, Rattus norvegicus
E297GPYAKESGIWA1Homo sapiens
E297GPYTREAGFWA1Bos taurus
G98LLAIGGWNFGT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I300TRQAGFWAYYE2Mus musculus, Rattus norvegicus
I300AKESGIWAYYE1Homo sapiens
I300TREAGFWAYYE1Bos taurus
L364VWAIDLDDFTG2Homo sapiens, Bos taurus
L364IWAIDLDDFTG2Mus musculus, Rattus norvegicus
M210DFIHVMTYDLH2Mus musculus, Rattus norvegicus
M210DYIHVMTYDLH1Homo sapiens
M210DFIHVMTYDFH1Bos taurus
M358NFGGAMIWAID2Mus musculus, Rattus norvegicus
M358KFGGAMVWAID1Homo sapiens
M358NFGGAMVWAID1Bos taurus
N100AIGGWNFGTAP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R35NWAQYRPGLGS3Bos taurus, Mus musculus, Rattus norvegicus
R35NWAQYRPGLGR1Homo sapiens
W218DLHGSWEGYTG2Homo sapiens, Mus musculus
W218DFHGSWEGYTG1Bos taurus
W218DLHGSWDGYTG1Rattus norvegicus
W31CYFTNWAQYRP3Homo sapiens, Mus musculus, Rattus norvegicus
W31CYFSNWAQYRP1Bos taurus
W360GGAMVWAIDLD2Homo sapiens, Bos taurus
W360GGAMIWAIDLD2Mus musculus, Rattus norvegicus
W99LAIGGWNFGTA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y212IHVMTYDLHGS3Homo sapiens, Mus musculus, Rattus norvegicus
Y212IHVMTYDFHGS1Bos taurus
Y267VGFPTYGHNFI1Homo sapiens
Y267IGFPAYGHNFI1Bos taurus
Y267VGFPEYGHTFI1Mus musculus
Y267VGFPEYGHTYI1Rattus norvegicus
Y27YQLTCYFTNWA1Homo sapiens
Y27YQLVCYFSNWA1Bos taurus
Y27YNLICYFTNWA1Mus musculus
Y27YNLVCYFTNWA1Rattus norvegicus


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