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 ELAVL4
Gene summary
Basic gene Info.Gene symbolELAVL4
Gene nameELAV like neuron-specific RNA binding protein 4
SynonymsHUD|PNEM
CytomapUCSC genome browser: 1p34
Type of geneprotein-coding
RefGenesNM_001144774.2,
NM_001144775.2,NM_001144776.2,NM_001144777.2,NM_001294348.1,
NM_021952.4,
DescriptionELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)ELAV-like protein 4Hu antigen Dparaneoplastic encephalomyelitis antigen HuD
Modification date20141207
dbXrefs MIM : 168360
HGNC : HGNC
Ensembl : ENSG00000162374
HPRD : 01343
Vega : OTTHUMG00000007877
ProteinUniProt: P26378
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ELAVL4
BioGPS: 1996
PathwayNCI Pathway Interaction Database: ELAVL4
KEGG: ELAVL4
REACTOME: ELAVL4
Pathway Commons: ELAVL4
ContextiHOP: ELAVL4
ligand binding site mutation search in PubMed: ELAVL4
UCL Cancer Institute: ELAVL4
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


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Ligand binding site mutations for ELAVL4

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F177F177LCOAD1
N51,I49V50IGBM1
R123,S125P124LHNSC1
K208A210SHNSC1
A39T40NLUAD1
N47T46ILUAD1
R179D181NLUSC1
R173,V175G174ESKCM1
R173V171MUCEC1
N133,Y135L134FUCEC1
K208F209VUCEC1
N51N51SUCEC1
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 ELAVL4
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
R123P124L0.32712752
S125P124L0.32712752
K208A210S-1.3246506
R179D181N-1.1700838
N133L134F-1.1479956
Y135L134F-1.1479956
R173V171M-0.99161508
A39T40N-0.93633667
K208F209V-0.85603822
I49V50I-0.81436492
N51V50I-0.81436492
N51N51S-0.7174894
V175G174E-0.68850187
R173G174E-0.68850187
N47T46I-0.32205918
F177F177L-0.19839374
(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 ELAVL4 from PDB

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Differential gene expression and gene-gene network for ELAVL4
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 ELAVL4 and the right PPI network was created from samples without mutations in the LBS of ELAVL4. 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 ELAVL4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for ELAVL4
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ELAVL4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ELAVL4
Multiple alignments for P26378 in multiple species
LBSAA sequence# speciesSpecies


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