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 EIF1AX
Gene summary
Basic gene Info.Gene symbolEIF1AX
Gene nameeukaryotic translation initiation factor 1A, X-linked
SynonymsEIF1A|EIF1AP1|EIF4C|eIF-1A|eIF-4C
CytomapUCSC genome browser: Xp22.12
Type of geneprotein-coding
RefGenesNM_001412.3,
DescriptionPutative eukaryotic translation initiation factor 1AeIF-1A X isoformeukaryotic translation initiation factor 1A, X chromosomeeukaryotic translation initiation factor 1A, X-chromosomaleukaryotic translation initiation factor 4C
Modification date20141207
dbXrefs MIM : 300186
HGNC : HGNC
Ensembl : ENSG00000173674
HPRD : 02174
Vega : OTTHUMG00000022704
ProteinUniProt: P47813
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EIF1AX
BioGPS: 1964
PathwayNCI Pathway Interaction Database: EIF1AX
KEGG: EIF1AX
REACTOME: EIF1AX
Pathway Commons: EIF1AX
ContextiHOP: EIF1AX
ligand binding site mutation search in PubMed: EIF1AX
UCL Cancer Institute: EIF1AX
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 EIF1AX

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H60I61LLUAD1
W70W70CUCEC1
P2P2SUCEC1
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 EIF1AX
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
P2P2S-1.2483263
W70W70C-1.1178059
H60I61L-0.62333255
(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 EIF1AX from PDB

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Differential gene expression and gene-gene network for EIF1AX
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 EIF1AX and the right PPI network was created from samples without mutations in the LBS of EIF1AX. 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 EIF1AX
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0220633Uveal melanoma2Biomarker

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

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Pharmacological information for EIF1AX
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 EIF1AX go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4kzznH60
NUCNucleic Acids4kzznW70


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Conservation information for LBS of EIF1AX
Multiple alignments for P47813 in multiple species
LBSAA sequence# speciesSpecies
D98LKYNADEARSL2Homo sapiens, Mus musculus
D98HKYNLDEARTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D98LKYTADEARTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G43VIKMLGNGRLE2Homo sapiens, Mus musculus
G43ITKMLGNGRVE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G43VTKMLGNGRIE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G45KMLGNGRLEAM2Homo sapiens, Mus musculus
G45KMLGNGRVEAS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G45KMLGNGRIEAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H60VKRLCHIRGKL1Homo sapiens
H60NKRMAHIRGKL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H60VRRLCHIRGKL1Mus musculus
H60VKRLGHIRGKL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K34Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Mus musculus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K64CHIRGKLRKKV2Homo sapiens, Mus musculus
K64AHIRGKLRKKV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K64GHIRGKLRKKV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K67RGKLRKKVWIN3Homo sapiens, Mus musculus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K67RGKLRKKVWMG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K68GKLRKKVWINT2Homo sapiens, Mus musculus
K68GKLRKKVWMGQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K68GKLRKKVWINQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L42QVIKMLGNGRL2Homo sapiens, Mus musculus
L42QITKMLGNGRV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L42QVTKMLGNGRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M41AQVIKMLGNGR2Homo sapiens, Mus musculus
M41AQITKMLGNGR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M41AQVTKMLGNGR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N44IKMLGNGRLEA2Homo sapiens, Mus musculus
N44TKMLGNGRVEA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N44TKMLGNGRIEA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P24Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Mus musculus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R46MLGNGRLEAMC2Homo sapiens, Mus musculus
R46MLGNGRVEASC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R46MLGNGRIEAAC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R66IRGKLRKKVWI3Homo sapiens, Mus musculus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R66IRGKLRKKVWM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W70LRKKVWINTSD2Homo sapiens, Mus musculus
W70LRKKVWMGQGD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W70LRKKVWINQGD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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