mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 IRAK4
Gene summary
Basic gene Info.Gene symbolIRAK4
Gene nameinterleukin-1 receptor-associated kinase 4
SynonymsIPD1|IRAK-4|NY-REN-64|REN64
CytomapUCSC genome browser: 12q12
Type of geneprotein-coding
RefGenesNM_001114182.2,
NM_001145256.1,NM_001145257.1,NM_001145258.1,NM_016123.3,
Descriptionrenal carcinoma antigen NY-REN-64
Modification date20141221
dbXrefs MIM : 606883
HGNC : HGNC
Ensembl : ENSG00000198001
HPRD : 06051
ProteinUniProt: Q9NWZ3
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IRAK4
BioGPS: 51135
PathwayNCI Pathway Interaction Database: IRAK4
KEGG: IRAK4
REACTOME: IRAK4
Pathway Commons: IRAK4
ContextiHOP: IRAK4
ligand binding site mutation search in PubMed: IRAK4
UCL Cancer Institute: IRAK4
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for IRAK4.1. Loiarro, M., Gallo, G., Fantò, N., De Santis, R., Carminati, P., Ruggiero, V., & Sette, C. (2009). Identification of critical residues of the MyD88 death domain involved in the recruitment of downstream kinases. Journal of Biological Chemistry, 284(41), 28093-28103. 19679662

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 IRAK4
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
LBSAAchange of nsSNVCancer type# samples
E194E194QBLCA1
D329F330VBRCA1
A315A315ECOAD1
D329G331SCOAD1
Y262Y262HSTAD1
I185R183QUCEC1
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 IRAK4
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
I185R183Q-1.687538
D329G331S-1.1906552
E194E194Q-1.0597038
Y262Y262H-1.0553043
A315A315E-0.24842136
D329F330V-0.19446352
(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 IRAK4 from PDB

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Differential gene expression and gene-gene network for IRAK4
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 IRAK4 and the right PPI network was created from samples without mutations in the LBS of IRAK4. 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 IRAK4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1843256IRAK4 Deficiency1Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for IRAK4
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB085901-(3-HYDROXYPROPYL)-2-[(3-NITROBENZOYL)AMINO]-1H-BENZIMIDAZOL-5-YL PIVALATESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IRAK4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ANPAMP-PNP2oidCA315 D329
ANPAMP-PNP2oidDE194 D329
4GFN-{1-(4-CYCLOPROPYL-2-FLUOROPHENYL)-3-[1-(PROPAN-2-YL) PIPERIDIN-4-YL]-1H-PYRAZOL-5-YL}PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yp8AE194 Y262
4GFN-{1-(4-CYCLOPROPYL-2-FLUOROPHENYL)-3-[1-(PROPAN-2-YL) PIPERIDIN-4-YL]-1H-PYRAZOL-5-YL}PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yp8BE194 Y262
4S35-(1,3-BENZOTHIAZOL-2-YL)-2-(MORPHOLIN-4-YL)-6-[(3R)- PIPERIDIN-3-YLAMINO]PYRIMIDIN-4(3H)-ONE4ztnCE194 Y262
STUSTAUROSPORINE2nryCE194 Y262 A315
STUSTAUROSPORINE2nryDE194 Y262 A315
STUSTAUROSPORINE2oicAE194 Y262 A315
STUSTAUROSPORINE2oicBE194 Y262 A315
STUSTAUROSPORINE4u97AE194 Y262 A315
STUSTAUROSPORINE4u97BE194 Y262 A315
STUSTAUROSPORINE4u9aAE194 Y262 A315
STUSTAUROSPORINE4u9aBE194 Y262 A315
4S25-(1,3-BENZOTHIAZOL-2-YL)-2-(CYCLOPROPYLAMINO)-6-{[(1R, 2S,3R,4R)-2,3-DIHYDROXY-4-(HYDROXYMETHYL) CYCLOPENTYL]AMINO}PYRIMIDIN-4(3H)-ONE4ztmAE194 Y262 A315
STUSTAUROSPORINE2nryAE194 Y262 A315 D329
STUSTAUROSPORINE2nryBE194 Y262 A315 D329
42P(1R,2S,3R,5R)-3-({5-(1,3-BENZOTHIAZOL-2-YL)-6-CHLORO-2- [(3-METHOXYPROPYL)AMINO]PYRIMIDIN-4-YL}AMINO)-5- (HYDROXYMETHYL)CYCLOPENTANE-1,2-DIOL4xs2DE194 Y262 A315 D329
XPY5-{[(1R,2S)-2-AMINOCYCLOHEXYL]AMINO}-N-[1-METHYL-3- (TRIFLUOROMETHYL)-1H-PYRAZOL-4-YL]PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4y73AE194 Y262 A315 D329
XPY5-{[(1R,2S)-2-AMINOCYCLOHEXYL]AMINO}-N-[1-METHYL-3- (TRIFLUOROMETHYL)-1H-PYRAZOL-4-YL]PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4y73BE194 Y262 A315 D329
XPY5-{[(1R,2S)-2-AMINOCYCLOHEXYL]AMINO}-N-[1-METHYL-3- (TRIFLUOROMETHYL)-1H-PYRAZOL-4-YL]PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4y73CE194 Y262 A315 D329
XPY5-{[(1R,2S)-2-AMINOCYCLOHEXYL]AMINO}-N-[1-METHYL-3- (TRIFLUOROMETHYL)-1H-PYRAZOL-4-YL]PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4y73DE194 Y262 A315 D329
4S1(1R,2S,3R,5R)-3-{[5-(1,3-BENZOTHIAZOL-2-YL)-2- (PROPYLAMINO)PYRIMIDIN-4-YL]AMINO}-5-(HYDROXYMETHYL) CYCLOPENTANE-1,2-DIOL4ztlDE194 Y262 A315 D329
4S25-(1,3-BENZOTHIAZOL-2-YL)-2-(CYCLOPROPYLAMINO)-6-{[(1R, 2S,3R,4R)-2,3-DIHYDROXY-4-(HYDROXYMETHYL) CYCLOPENTYL]AMINO}PYRIMIDIN-4(3H)-ONE4ztmDE194 Y262 A315 D329
ANPAMP-PNP2oidAE194 Y262 D329
4GFN-{1-(4-CYCLOPROPYL-2-FLUOROPHENYL)-3-[1-(PROPAN-2-YL) PIPERIDIN-4-YL]-1H-PYRAZOL-5-YL}PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yp8CI185 E194 Y262
4GFN-{1-(4-CYCLOPROPYL-2-FLUOROPHENYL)-3-[1-(PROPAN-2-YL) PIPERIDIN-4-YL]-1H-PYRAZOL-5-YL}PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yp8DI185 E194 Y262 A315
T121-(3-HYDROXYPROPYL)-2-[(3-NITROBENZOYL)AMINO]-1H-BENZIMIDAZOL-5-YL PIVALATE2nruCI185 Y262
42P(1R,2S,3R,5R)-3-({5-(1,3-BENZOTHIAZOL-2-YL)-6-CHLORO-2- [(3-METHOXYPROPYL)AMINO]PYRIMIDIN-4-YL}AMINO)-5- (HYDROXYMETHYL)CYCLOPENTANE-1,2-DIOL4xs2CI185 Y262 A315 D329
T121-(3-HYDROXYPROPYL)-2-[(3-NITROBENZOYL)AMINO]-1H-BENZIMIDAZOL-5-YL PIVALATE2nruAY262
T121-(3-HYDROXYPROPYL)-2-[(3-NITROBENZOYL)AMINO]-1H-BENZIMIDAZOL-5-YL PIVALATE2nruBY262
T121-(3-HYDROXYPROPYL)-2-[(3-NITROBENZOYL)AMINO]-1H-BENZIMIDAZOL-5-YL PIVALATE2nruDY262
4GDN-(3-METHYL-1-PHENYL-1H-PYRAZOL-5-YL)PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yo6AY262
4GDN-(3-METHYL-1-PHENYL-1H-PYRAZOL-5-YL)PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yo6CY262
4GDN-(3-METHYL-1-PHENYL-1H-PYRAZOL-5-YL)PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yo6DY262
4S25-(1,3-BENZOTHIAZOL-2-YL)-2-(CYCLOPROPYLAMINO)-6-{[(1R, 2S,3R,4R)-2,3-DIHYDROXY-4-(HYDROXYMETHYL) CYCLOPENTYL]AMINO}PYRIMIDIN-4(3H)-ONE4ztmCY262
4S35-(1,3-BENZOTHIAZOL-2-YL)-2-(MORPHOLIN-4-YL)-6-[(3R)- PIPERIDIN-3-YLAMINO]PYRIMIDIN-4(3H)-ONE4ztnAY262
4S35-(1,3-BENZOTHIAZOL-2-YL)-2-(MORPHOLIN-4-YL)-6-[(3R)- PIPERIDIN-3-YLAMINO]PYRIMIDIN-4(3H)-ONE4ztnBY262
4S35-(1,3-BENZOTHIAZOL-2-YL)-2-(MORPHOLIN-4-YL)-6-[(3R)- PIPERIDIN-3-YLAMINO]PYRIMIDIN-4(3H)-ONE4ztnDY262
STUSTAUROSPORINE2oicCY262 A315
STUSTAUROSPORINE2oicDY262 A315
4S25-(1,3-BENZOTHIAZOL-2-YL)-2-(CYCLOPROPYLAMINO)-6-{[(1R, 2S,3R,4R)-2,3-DIHYDROXY-4-(HYDROXYMETHYL) CYCLOPENTYL]AMINO}PYRIMIDIN-4(3H)-ONE4ztmBY262 A315
ANPAMP-PNP2oidBY262 A315 D329
42P(1R,2S,3R,5R)-3-({5-(1,3-BENZOTHIAZOL-2-YL)-6-CHLORO-2- [(3-METHOXYPROPYL)AMINO]PYRIMIDIN-4-YL}AMINO)-5- (HYDROXYMETHYL)CYCLOPENTANE-1,2-DIOL4xs2AY262 A315 D329
42P(1R,2S,3R,5R)-3-({5-(1,3-BENZOTHIAZOL-2-YL)-6-CHLORO-2- [(3-METHOXYPROPYL)AMINO]PYRIMIDIN-4-YL}AMINO)-5- (HYDROXYMETHYL)CYCLOPENTANE-1,2-DIOL4xs2BY262 A315 D329
4S1(1R,2S,3R,5R)-3-{[5-(1,3-BENZOTHIAZOL-2-YL)-2- (PROPYLAMINO)PYRIMIDIN-4-YL]AMINO}-5-(HYDROXYMETHYL) CYCLOPENTANE-1,2-DIOL4ztlAY262 A315 D329
4S1(1R,2S,3R,5R)-3-{[5-(1,3-BENZOTHIAZOL-2-YL)-2- (PROPYLAMINO)PYRIMIDIN-4-YL]AMINO}-5-(HYDROXYMETHYL) CYCLOPENTANE-1,2-DIOL4ztlBY262 A315 D329
4S1(1R,2S,3R,5R)-3-{[5-(1,3-BENZOTHIAZOL-2-YL)-2- (PROPYLAMINO)PYRIMIDIN-4-YL]AMINO}-5-(HYDROXYMETHYL) CYCLOPENTANE-1,2-DIOL4ztlCY262 A315 D329
4GDN-(3-METHYL-1-PHENYL-1H-PYRAZOL-5-YL)PYRAZOLO[1,5- A]PYRIMIDINE-3-CARBOXAMIDE4yo6BY262 D329


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Conservation information for LBS of IRAK4
Multiple alignments for Q9NWZ3 in multiple species
LBSAA sequence# speciesSpecies
A211NNTTVAVKKLA1Homo sapiens
A211DGTTLTASKPG1Arabidopsis thaliana
A211DQTSLTASRPG1Arabidopsis thaliana
A211NNTIVAVKKLG1Mus musculus
A211NNRTVAVKKLA1Bos taurus
A315RDIKSANILLD3Homo sapiens, Mus musculus, Bos taurus
A315RDFKAANILLD2Arabidopsis thaliana, Arabidopsis thaliana
D272NGSLLDRLSCL3Homo sapiens, Mus musculus, Bos taurus
D272KGSLENHLFR-2Arabidopsis thaliana, Arabidopsis thaliana
D311HHIHRDIKSAN3Homo sapiens, Mus musculus, Bos taurus
D311QVIYRDFKAAN2Arabidopsis thaliana, Arabidopsis thaliana
D329TAKISDFGLAR3Homo sapiens, Mus musculus, Bos taurus
D329NSKLSDFGLAK1Arabidopsis thaliana
D329NAKLSDFGLAK1Arabidopsis thaliana
E194GNKMGEGGFGV2Homo sapiens, Bos taurus
E194DSLLGEGGFGY1Arabidopsis thaliana
E194DNLLGEGGFGC1Arabidopsis thaliana
E194GNRMGEGGFGV1Mus musculus
E233QQFDQEIKVMA3Homo sapiens, Mus musculus, Bos taurus
E233KEWLTEVNYLG2Arabidopsis thaliana, Arabidopsis thaliana
F168----AFTFNEL2Arabidopsis thaliana, Arabidopsis thaliana
F168TRFHSFSFYEL1Homo sapiens
F168TRFHSFSFHEL1Mus musculus
F168TRFHSFSFFEL1Bos taurus
F197MGEGGFGVVYK3Homo sapiens, Mus musculus, Bos taurus
F197LGEGGFGYVFK1Arabidopsis thaliana
F197LGEGGFGCVFK1Arabidopsis thaliana
G193GGNKMGEGGFG2Homo sapiens, Bos taurus
G193-DSLLGEGGFG1Arabidopsis thaliana
G193-DNLLGEGGFG1Arabidopsis thaliana
G193GGNRMGEGGFG1Mus musculus
G195NKMGEGGFGVV2Homo sapiens, Bos taurus
G195SLLGEGGFGYV1Arabidopsis thaliana
G195NLLGEGGFGCV1Arabidopsis thaliana
G195NRMGEGGFGVV1Mus musculus
G196KMGEGGFGVVY2Homo sapiens, Bos taurus
G196LLGEGGFGYVF1Arabidopsis thaliana
G196LLGEGGFGCVF1Arabidopsis thaliana
G196RMGEGGFGVVY1Mus musculus
G268VYMPNGSLLDR2Homo sapiens, Bos taurus
G268EFMPKGSLENH2Arabidopsis thaliana, Arabidopsis thaliana
G268AYMPNGSLLDR1Mus musculus
H166------AFTFN2Arabidopsis thaliana, Arabidopsis thaliana
H166SDTRFHSFSFY1Homo sapiens
H166SDTRFHSFSFH1Mus musculus
H166SDTRFHSFSFF1Bos taurus
I185FDERPISVGGN2Homo sapiens, Bos taurus
I185FRP------DS1Arabidopsis thaliana
I185FRQ------DN1Arabidopsis thaliana
I185FDEQPASAGGN1Mus musculus
K213TTVAVKKLAAM1Homo sapiens
K213TTLTASKPGSG1Arabidopsis thaliana
K213TSLTASRPGSG1Arabidopsis thaliana
K213TIVAVKKLGAM1Mus musculus
K213RTVAVKKLAAM1Bos taurus
K313IHRDIKSANIL3Homo sapiens, Mus musculus, Bos taurus
K313IYRDFKAANIL2Arabidopsis thaliana, Arabidopsis thaliana
L318KSANILLDEAF1Homo sapiens
L318KAANILLDAEF1Arabidopsis thaliana
L318KAANILLDADF1Arabidopsis thaliana
L318KSANILLDKDF1Mus musculus
L318KSANILLDEDF1Bos taurus
M192VGGNKMGEGGF2Homo sapiens, Bos taurus
M192--DSLLGEGGF1Arabidopsis thaliana
M192--DNLLGEGGF1Arabidopsis thaliana
M192AGGNRMGEGGF1Mus musculus
M265LVYVYMPNGSL2Homo sapiens, Bos taurus
M265LVYEFMPKGSL2Arabidopsis thaliana, Arabidopsis thaliana
M265LVYAYMPNGSL1Mus musculus
N206YKGYVNNTTVA1Homo sapiens
N206FKGWIDGTTLT1Arabidopsis thaliana
N206FKGWIDQTSLT1Arabidopsis thaliana
N206YKGCVNNTIVA1Mus musculus
N206YKGYVNNRTVA1Bos taurus
N267YVYMPNGSLLD2Homo sapiens, Bos taurus
N267YEFMPKGSLEN2Arabidopsis thaliana, Arabidopsis thaliana
N267YAYMPNGSLLD1Mus musculus
N316DIKSANILLDE2Homo sapiens, Bos taurus
N316DFKAANILLDA2Arabidopsis thaliana, Arabidopsis thaliana
N316DIKSANILLDK1Mus musculus
P266VYVYMPNGSLL2Homo sapiens, Bos taurus
P266VYEFMPKGSLE2Arabidopsis thaliana, Arabidopsis thaliana
P266VYAYMPNGSLL1Mus musculus
R273GSLLDRLSCLD3Homo sapiens, Mus musculus, Bos taurus
R273GSLENHLFR-R2Arabidopsis thaliana, Arabidopsis thaliana
S269YMPNGSLLDRL3Homo sapiens, Mus musculus, Bos taurus
S269FMPKGSLENHL2Arabidopsis thaliana, Arabidopsis thaliana
S328FTAKISDFGLA3Homo sapiens, Mus musculus, Bos taurus
S328FNSKLSDFGLA1Arabidopsis thaliana
S328FNAKLSDFGLA1Arabidopsis thaliana
T208GYVNNTTVAVK1Homo sapiens
T208GWIDGTTLTAS1Arabidopsis thaliana
T208GWIDQTSLTAS1Arabidopsis thaliana
T208GCVNNTIVAVK1Mus musculus
T208GYVNNRTVAVK1Bos taurus
T280SCLDGTPPLSW3Homo sapiens, Mus musculus, Bos taurus
T280FR-RGAQPLTW2Arabidopsis thaliana, Arabidopsis thaliana
V200GGFGVVYKGYV2Homo sapiens, Bos taurus
V200GGFGYVFKGWI1Arabidopsis thaliana
V200GGFGCVFKGWI1Arabidopsis thaliana
V200GGFGVVYKGCV1Mus musculus
V205VYKGYVNNTTV1Homo sapiens
V205VFKGWIDGTTL1Arabidopsis thaliana
V205VFKGWIDQTSL1Arabidopsis thaliana
V205VYKGCVNNTIV1Mus musculus
V205VYKGYVNNRTV1Bos taurus
V210VNNTTVAVKKL1Homo sapiens
V210IDGTTLTASKP1Arabidopsis thaliana
V210IDQTSLTASRP1Arabidopsis thaliana
V210VNNTIVAVKKL1Mus musculus
V210VNNRTVAVKKL1Bos taurus
V246QHENLVELLGF3Homo sapiens, Mus musculus, Bos taurus
V246SHPNLVKLVGY1Arabidopsis thaliana
V246SHPNLVLLVGY1Arabidopsis thaliana
V263LCLVYVYMPNG2Homo sapiens, Bos taurus
V263RLLVYEFMPKG2Arabidopsis thaliana, Arabidopsis thaliana
V263LCLVYAYMPNG1Mus musculus
Y262DLCLVYVYMPN2Homo sapiens, Bos taurus
Y262NRLLVYEFMPK2Arabidopsis thaliana, Arabidopsis thaliana
Y262NLCLVYAYMPN1Mus musculus
Y264CLVYVYMPNGS2Homo sapiens, Bos taurus
Y264LLVYEFMPKGS2Arabidopsis thaliana, Arabidopsis thaliana
Y264CLVYAYMPNGS1Mus musculus


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