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 HS3ST3A1

Gene summary

Basic gene Info.	Gene symbol	HS3ST3A1
	Gene name	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
	Synonyms	30ST3A1\|3OST3A1
	Cytomap	UCSC genome browser: 17p12
	Type of gene	protein-coding
	RefGenes	NM_006042.1,
	Description	3-OST-3Ah3-OST-3Aheparan sulfate 3-O-sulfotransferase 3A1heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1heparan sulfate glucosamine 3-O-sulfotransferase 3A1heparin-glucosamine 3-O-sulfotransferase
	Modification date	20141207
dbXrefs	MIM : 604057
	HGNC : HGNC
	Ensembl : ENSG00000153976
	HPRD : 04958
	Vega : OTTHUMG00000058768
Protein	UniProt: Q9Y663 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HS3ST3A1
	BioGPS: 9955
Pathway	NCI Pathway Interaction Database: HS3ST3A1
	KEGG: HS3ST3A1
	REACTOME: HS3ST3A1
	Pathway Commons: HS3ST3A1
Context	iHOP: HS3ST3A1
	ligand binding site mutation search in PubMed: HS3ST3A1
	UCL Cancer Institute: HS3ST3A1
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

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Ligand binding site mutations for HS3ST3A1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
R243	V241A	GBM	1
P217,K215	T216M	GBM	1
R190	R190G	LUAD	1
R243	D244G	LUAD	1
R243	V241L	LUAD	1
S251	S251L	LUSC	1
R243	D244N	SKCM	1
K215	E214K	SKCM	1
S251	A249V	SKCM	1
K215	M213T	STAD	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 HS3ST3A1

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
R243	V241A	-1.521441
K215	E214K	-1.3137067
R190	R190G	-1.3129984
K215	M213T	-1.200664
R243	D244G	-1.1136673
R243	D244N	-1.0194725
R243	V241L	-0.94004651
S251	A249V	-0.47055633
P217	T216M	-0.40559268
K215	T216M	-0.40559268
S251	S251L	-0.01215131

(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 HS3ST3A1 from PDB

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Differential gene expression and gene-gene network for HS3ST3A1

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 HS3ST3A1 and the right PPI network was created from samples without mutations in the LBS of HS3ST3A1. 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 HS3ST3A1

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for HS3ST3A1

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 status	DrugBank ID	Name	Type	Drug structure
Experimental	DB01812	Adenosine-3'-5'-Diphosphate	Small molecule
Experimental	DB02264	O2-Sulfo-Glucuronic Acid	Small molecule
Experimental	DB03959	N,O6-Disulfo-Glucosamine	Small molecule
Experimental	DB03981	1,4-Dideoxy-5-Dehydro-O2-Sulfo-Glucuronic Acid	Small molecule
Nutraceutical\|vet_approved	DB04272	Citric Acid	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HS3ST3A1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
UAP		1,4-DIDEOXY-5-DEHYDRO-O2-SULFO-GLUCURONIC ACID	1t8u	B	K215
SO4		SULFATE	1t8u	A	P217
SGN		N,O6-DISULFO-GLUCOSAMINE	1t8u	B	P217
IDS		2-O-SULFO-ALPHA-L-IDOPYRANURONIC ACID	1t8u	B	R190
A3P		ADENOSINE 3',5'-BISPHOSPHATE	1t8t	A	R243 S251
A3P		ADENOSINE 3',5'-BISPHOSPHATE	1t8t	B	R243 S251
A3P		ADENOSINE 3',5'-BISPHOSPHATE	1t8u	A	R243 S251
A3P		ADENOSINE 3',5'-BISPHOSPHATE	1t8u	B	R243 S251

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Conservation information for LBS of HS3ST3A1

Multiple alignments for Q9Y663 in multiple species

LBS

AA sequence

# species

Species