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 ELAVL1
Gene summary
Basic gene Info.Gene symbolELAVL1
Gene nameELAV like RNA binding protein 1
SynonymsELAV1|HUR|Hua|MelG
CytomapUCSC genome browser: 19p13.2
Type of geneprotein-coding
RefGenesNM_001419.2,
DescriptionELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)ELAV-like protein 1Hu antigen Rembryonic lethal, abnormal vision, drosophila, homolog-like 1hu-antigen R
Modification date20141222
dbXrefs MIM : 603466
HGNC : HGNC
Ensembl : ENSG00000066044
HPRD : 16025
Vega : OTTHUMG00000182470
ProteinUniProt: Q15717
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ELAVL1
BioGPS: 1994
PathwayNCI Pathway Interaction Database: ELAVL1
KEGG: ELAVL1
REACTOME: ELAVL1
Pathway Commons: ELAVL1
ContextiHOP: ELAVL1
ligand binding site mutation search in PubMed: ELAVL1
UCL Cancer Institute: ELAVL1
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
GO:0045727positive regulation of translation21613615
GO:0048255mRNA stabilization21613615
GO:00709353'-UTR-mediated mRNA stabilization14517288


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Ligand binding site mutations for ELAVL1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A10E11KBRCA1
N21T20MCOAD1
S100E101GKIRC1
R153D155HLUAD1
Q29Q29HLUAD1
N21R19KSKCM1
R97R97HSTAD1
Q29P28HSTAD1
R53R53WUCEC1
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 ELAVL1
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
N21T20M0.1762491
A10E11K-1.5704944
R53R53W-1.5248783
R97R97H-1.3132184
N21R19K-1.0239435
Q29P28H-1.0210283
S100E101G-0.99528148
R153D155H-0.90197554
Q29Q29H-0.85116362
(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 ELAVL1 from PDB

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Differential gene expression and gene-gene network for ELAVL1
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 ELAVL1 and the right PPI network was created from samples without mutations in the LBS of ELAVL1. 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 ELAVL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0014175Endometriosis1Biomarker

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

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Pharmacological information for ELAVL1
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 ELAVL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4ed5AN21 Q29 R97 S100 R153
NUCNucleic Acids4ed5BN21 R53 R97 S100 R153


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Conservation information for LBS of ELAVL1
Multiple alignments for Q15717 in multiple species
LBSAA sequence# speciesSpecies
A10YEDHMAEDCRG1Homo sapiens
A10YGDHMDDVCRD1Xenopus tropicalis
A10YEDHMAEDCRD1Mus musculus
A106EVIKDANLYIS2Homo sapiens, Mus musculus
A106ESIKDANLYIS1Xenopus tropicalis
A96IKVSYARPSSE2Homo sapiens, Mus musculus
A96IKVSVARPSSE1Xenopus tropicalis
F151SRGVAFIRFDK3Homo sapiens, Xenopus tropicalis, Mus musculus
F65SLGYGFVNYVT2Homo sapiens, Mus musculus
F65SLGYGFVNYLN1Xenopus tropicalis
H59DKVAGHSLGYG3Homo sapiens, Xenopus tropicalis, Mus musculus
I103PSSEVIKDANL2Homo sapiens, Mus musculus
I103PSSESIKDANL1Xenopus tropicalis
I133RFGRIINSRVL2Homo sapiens, Mus musculus
I133PFGRIINSRVL1Xenopus tropicalis
I23GRTNLIVNYLP3Homo sapiens, Xenopus tropicalis, Mus musculus
I52ESAKLIRDKVA3Homo sapiens, Xenopus tropicalis, Mus musculus
K104SSEVIKDANLY2Homo sapiens, Mus musculus
K104SSESIKDANLY1Xenopus tropicalis
K182EPITVKFAANP3Homo sapiens, Xenopus tropicalis, Mus musculus
K50EVESAKLIRDK3Homo sapiens, Xenopus tropicalis, Mus musculus
K89LRLQSKTIKVS3Homo sapiens, Xenopus tropicalis, Mus musculus
K92QSKTIKVSYAR2Homo sapiens, Mus musculus
K92QSKTIKVSVAR1Xenopus tropicalis
L138INSRVLVDQTT2Homo sapiens, Mus musculus
L138INSRVLVDQAT1Xenopus tropicalis
L61VAGHSLGYGFV3Homo sapiens, Xenopus tropicalis, Mus musculus
N107VIKDANLYISG2Homo sapiens, Mus musculus
N107SIKDANLYISG1Xenopus tropicalis
N134FGRIINSRVLV3Homo sapiens, Xenopus tropicalis, Mus musculus
N21DIGRTNLIVNY3Homo sapiens, Xenopus tropicalis, Mus musculus
N25TNLIVNYLPQN3Homo sapiens, Xenopus tropicalis, Mus musculus
Q29VNYLPQNMTQD2Homo sapiens, Xenopus tropicalis
Q29VNYLPQNMTQE1Mus musculus
R136RIINSRVLVDQ3Homo sapiens, Xenopus tropicalis, Mus musculus
R147TTGLSRGVAFI2Homo sapiens, Mus musculus
R147ATGLSRGVAFI1Xenopus tropicalis
R153GVAFIRFDKRS3Homo sapiens, Xenopus tropicalis, Mus musculus
R53SAKLIRDKVAG3Homo sapiens, Xenopus tropicalis, Mus musculus
R97KVSYARPSSEV2Homo sapiens, Mus musculus
R97KVSVARPSSES1Xenopus tropicalis
S100YARPSSEVIKD2Homo sapiens, Mus musculus
S100VARPSSESIKD1Xenopus tropicalis
S60KVAGHSLGYGF3Homo sapiens, Xenopus tropicalis, Mus musculus
S99SYARPSSEVIK2Homo sapiens, Mus musculus
S99SVARPSSESIK1Xenopus tropicalis
T90RLQSKTIKVSY2Homo sapiens, Mus musculus
T90RLQSKTIKVSV1Xenopus tropicalis
Y109KDANLYISGLP3Homo sapiens, Xenopus tropicalis, Mus musculus
Y26NLIVNYLPQNM3Homo sapiens, Xenopus tropicalis, Mus musculus
Y63GHSLGYGFVNY3Homo sapiens, Xenopus tropicalis, Mus musculus


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