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 IDUA

Gene summary

Basic gene Info.	Gene symbol	IDUA
	Gene name	iduronidase, alpha-L-
	Synonyms	IDA\|MPS1
	Cytomap	UCSC genome browser: 4p16.3
	Type of gene	protein-coding
	RefGenes	NM_000203.4, NR_110313.1,
	Description	alpha-L-iduronidase
	Modification date	20141219
dbXrefs	MIM : 252800
	HGNC : HGNC
	Ensembl : ENSG00000127415
	HPRD : 02016
	Vega : OTTHUMG00000088901
Protein	UniProt: P35475 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_IDUA
	BioGPS: 3425
Pathway	NCI Pathway Interaction Database: IDUA
	KEGG: IDUA
	REACTOME: IDUA
	Pathway Commons: IDUA
Context	iHOP: IDUA
	ligand binding site mutation search in PubMed: IDUA
	UCL Cancer Institute: IDUA
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

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

GO ID	GO Term	PubMed ID
GO:0030209	dermatan sulfate catabolic process	24036510

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Ligand binding site mutations for IDUA

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

LBS	AAchange of nsSNV	Cancer type	# samples
N372	T374P	HNSC	1
K264	R263M	UCEC	1

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 IDUA

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.

LBS	AAchange of nsSNV	Relative stability change
N372	T374P	-0.95871472
K264	R263M	-0.74980414

(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 IDUA from PDB

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Differential gene expression and gene-gene network for IDUA

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 IDUA and the right PPI network was created from samples without mutations in the LBS of IDUA. 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 IDUA

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0023786	Mucopolysaccharidosis I	83	Biomarker, GeneticVariation, Therapeutic
umls:C0086795	Hurler Syndrome	37	Biomarker, GeneticVariation
umls:C0026708	Mucopolysaccharidosis V	6	Biomarker, GeneticVariation
umls:C0086431	Hurler-Scheie syndrome	5	Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for IDUA

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 status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IDUA go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
IDR		L-IDURONIC ACID	3w82	A	K264
IDR		L-IDURONIC ACID	3w82	B	K264
IDF		5-FLUORO-ALPHA-L-IDOPYRANOSYLURONIC ACID FLUORIDE	4kgj	A	K264
IDF		5-FLUORO-ALPHA-L-IDOPYRANOSYLURONIC ACID FLUORIDE	4kgj	B	K264
IDJ	[2R,3R,4R,5S]-2-CARBOXY-3,4,5-TRIHYDROXY-PIPERIDINE	(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC ACID	4kgl	A	K264
IDJ	[2R,3R,4R,5S]-2-CARBOXY-3,4,5-TRIHYDROXY-PIPERIDINE	(2R,3R,4R,5S)-3,4,5-TRIHYDROXYPIPERIDINE-2-CARBOXYLIC ACID	4kgl	B	K264
FIF		2-DEOXY-2-FLUORO-ALPHA-L-IDOPYRANURONOSYL FLUORIDE, BOUND FORM	4kh2	A	K264
FIF		2-DEOXY-2-FLUORO-ALPHA-L-IDOPYRANURONOSYL FLUORIDE, BOUND FORM	4kh2	B	K264
IDR		L-IDURONIC ACID	4obr	A	K264
IDR		L-IDURONIC ACID	4obr	B	K264
NAG		ALDEHYDO-N-ACETYL-D-GLUCOSAMINE	4kh2	A	N372
NAG		ALDEHYDO-N-ACETYL-D-GLUCOSAMINE	4kh2	B	N372

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Conservation information for LBS of IDUA

Multiple alignments for P35475 in multiple species

LBS

AA sequence

# species

Species