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 SNRPE

Gene summary

Basic gene Info.	Gene symbol	SNRPE
	Gene name	small nuclear ribonucleoprotein polypeptide E
	Synonyms	B-raf\|HYPT11\|SME\|Sm-E
	Cytomap	UCSC genome browser: 1q32
	Type of gene	protein-coding
	RefGenes	NM_003094.2,
	Description	sm protein Esmall nuclear ribonucleoprotein EsnRNP-E
	Modification date	20141207
dbXrefs	MIM : 128260
	HGNC : HGNC
	HPRD : 00548
Protein	UniProt: P62304 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_SNRPE
	BioGPS: 6635
Pathway	NCI Pathway Interaction Database: SNRPE
	KEGG: SNRPE
	REACTOME: SNRPE
	Pathway Commons: SNRPE
Context	iHOP: SNRPE
	ligand binding site mutation search in PubMed: SNRPE
	UCL Cancer Institute: SNRPE
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:0000387	spliceosomal snRNP assembly	18984161

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Ligand binding site mutations for SNRPE

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
M41	R42W	COAD	2

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 SNRPE

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
M41	R42W	-0.97666019

(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 SNRPE from PDB

PDB ID	PDB title	PDB structure
3CW1	Crystal Structure of Human Spliceosomal U1 snRNP

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Differential gene expression and gene-gene network for SNRPE

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

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C3554409	HYPOTRICHOSIS 11	1	GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for SNRPE

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.