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 UBE3A

Gene summary

Basic gene Info.	Gene symbol	UBE3A
	Gene name	ubiquitin protein ligase E3A
	Synonyms	ANCR\|AS\|E6-AP\|EPVE6AP\|HPVE6A
	Cytomap	UCSC genome browser: 15q11.2
	Type of gene	protein-coding
	RefGenes	NM_000462.3, NM_130838.1,NM_130839.2,
	Description	CTCL tumor antigen se37-2E6AP ubiquitin-protein ligasehuman papilloma virus E6-associated proteinhuman papillomavirus E6-associated proteinoncogenic protein-associated protein E6-APrenal carcinoma antigen NY-REN-54ubiquitin-protein ligase E3A
	Modification date	20141221
dbXrefs	MIM : 601623
	HGNC : HGNC
	Ensembl : ENSG00000114062
	HPRD : 03375
Protein	UniProt: Q05086 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_UBE3A
	BioGPS: 7337
Pathway	NCI Pathway Interaction Database: UBE3A
	KEGG: UBE3A
	REACTOME: UBE3A
	Pathway Commons: UBE3A
Context	iHOP: UBE3A
	ligand binding site mutation search in PubMed: UBE3A
	UCL Cancer Institute: UBE3A
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:0051865	protein autoubiquitination	24105792
GO:0070936	protein K48-linked ubiquitination	12890688

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Ligand binding site mutations for UBE3A

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
C49	A48T	COAD	1
C83	D84N	HNSC	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 UBE3A

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
C49	A48T	-1.4100753
C83	D84N	-1.014439

(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 UBE3A from PDB

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Differential gene expression and gene-gene network for UBE3A

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 UBE3A and the right PPI network was created from samples without mutations in the LBS of UBE3A. 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 UBE3A

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0162635	Angelman Syndrome	109	Biomarker, GeneticVariation
umls:C0004352	Autistic Disorder	13	Biomarker, GeneticVariation
umls:C0014544	Epilepsy	6	Biomarker
umls:C0376634	Craniofacial Abnormalities	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for UBE3A

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.