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 DYRK1A
Gene summary
Basic gene Info.Gene symbolDYRK1A
Gene namedual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
SynonymsDYRK|DYRK1|HP86|MNB|MNBH|MRD7
CytomapUCSC genome browser: 21q22.13
Type of geneprotein-coding
RefGenesNM_001396.3,
NM_101395.2,NM_130436.2,NM_130438.2,NM_130437.2,
DescriptionMNB/DYRK protein kinasedual specificity YAK1-related kinasedual specificity tyrosine-phosphorylation-regulated kinase 1AhMNBmnb protein kinase homolog hp86protein kinase minibrain homologserine/threonine kinase MNBserine/threonine-specific protein
Modification date20141207
dbXrefs MIM : 600855
HGNC : HGNC
Ensembl : ENSG00000157540
HPRD : 09018
Vega : OTTHUMG00000086657
ProteinUniProt: Q13627
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DYRK1A
BioGPS: 1859
PathwayNCI Pathway Interaction Database: DYRK1A
KEGG: DYRK1A
REACTOME: DYRK1A
Pathway Commons: DYRK1A
ContextiHOP: DYRK1A
ligand binding site mutation search in PubMed: DYRK1A
UCL Cancer Institute: DYRK1A
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0018108peptidyl-tyrosine phosphorylation9748265


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Ligand binding site mutations for DYRK1A

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
I165L164FBRCA1
Y246D247NHNSC1
D287C286YLUSC1
N244N244KSTAD1
R328R328LUCEC1
R328R328QUCEC1
Y246D247HUCEC1
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 DYRK1A
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
I165L164F-1.1260252
N244N244K-1.0496927
Y246D247N-0.80587448
R328R328Q-0.80378695
Y246D247H-0.62981217
R328R328L-0.21839072
D287C286Y-0.20091474
(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 DYRK1A from PDB

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Differential gene expression and gene-gene network for DYRK1A
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 DYRK1A and the right PPI network was created from samples without mutations in the LBS of DYRK1A. 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 DYRK1A
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 DYRK1A
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
ExperimentalDB07608N-(5-{[(2S)-4-amino-2-(3-chlorophenyl)butanoyl]amino}-1H-indazol-3-yl)benzamideSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of DYRK1A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
D15N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE2vx3AI165
D15N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE2vx3BI165
D15N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE2vx3CI165
D15N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE2vx3DI165
D15N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE2wo6AI165
D15N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE2wo6BI165
HRMHARMINE3anrAI165
HRMHARMINE3anrBI165
HRMHARMINE3anrCI165
HRMHARMINE3anrDI165
3RA5-(1,3-BENZODIOXOL-5-YLMETHYL)-2-(PHENYLAMINO)-4H-IMIDAZOL-4-ONE4azeAI165
2C3N-(5-{[(1R)-3-AMINO-1-(3-CHLOROPHENYL) PROPYL]CARBAMOYL}-2-CHLOROPHENYL)-2-METHOXY-7-OXO-7,8- DIHYDROPYRIDO[2,3-D]PYRIMIDINE-6-CARBOXAMIDE4mq1AI165
2C3N-(5-{[(1R)-3-AMINO-1-(3-CHLOROPHENYL) PROPYL]CARBAMOYL}-2-CHLOROPHENYL)-2-METHOXY-7-OXO-7,8- DIHYDROPYRIDO[2,3-D]PYRIMIDINE-6-CARBOXAMIDE4mq1BI165
2C3N-(5-{[(1R)-3-AMINO-1-(3-CHLOROPHENYL) PROPYL]CARBAMOYL}-2-CHLOROPHENYL)-2-METHOXY-7-OXO-7,8- DIHYDROPYRIDO[2,3-D]PYRIMIDINE-6-CARBOXAMIDE4mq1CI165
2C3N-(5-{[(1R)-3-AMINO-1-(3-CHLOROPHENYL) PROPYL]CARBAMOYL}-2-CHLOROPHENYL)-2-METHOXY-7-OXO-7,8- DIHYDROPYRIDO[2,3-D]PYRIMIDINE-6-CARBOXAMIDE4mq1DI165
2C4METHYL 4-CHLORO-3-{[(2-METHOXY-7-OXO-7,8- DIHYDROPYRIDO[2,3-D]PYRIMIDIN-6-YL) CARBONYL]AMINO}BENZOATE4mq2AI165
2C4METHYL 4-CHLORO-3-{[(2-METHOXY-7-OXO-7,8- DIHYDROPYRIDO[2,3-D]PYRIMIDIN-6-YL) CARBONYL]AMINO}BENZOATE4mq2CI165
2C4METHYL 4-CHLORO-3-{[(2-METHOXY-7-OXO-7,8- DIHYDROPYRIDO[2,3-D]PYRIMIDIN-6-YL) CARBONYL]AMINO}BENZOATE4mq2DI165
AWR4-(7-METHOXY-1-(TRIFLUOROMETHYL)-9H-PYRIDO[3, 4-B]INDOL-9-YL)BUTAN-1-AMINE5aikAI165
AWR4-(7-METHOXY-1-(TRIFLUOROMETHYL)-9H-PYRIDO[3, 4-B]INDOL-9-YL)BUTAN-1-AMINE5aikCI165
AWR4-(7-METHOXY-1-(TRIFLUOROMETHYL)-9H-PYRIDO[3, 4-B]INDOL-9-YL)BUTAN-1-AMINE5aikDI165
4E110-IODO-11H-INDOLO[3,2-C]QUINOLINE-6-CARBOXYLIC ACID4yljAI165
4E110-IODO-11H-INDOLO[3,2-C]QUINOLINE-6-CARBOXYLIC ACID4yljBI165
4E110-IODO-11H-INDOLO[3,2-C]QUINOLINE-6-CARBOXYLIC ACID4yljDI165
4E210-CHLORO-2-IODO-11H-INDOLO[3,2-C]QUINOLINE-6- CARBOXYLIC ACID4ylkAI165
4E310-BROMO-2-IODO-11H-INDOLO[3,2-C]QUINOLINE-6-CARBOXYLIC ACID4yllAI165
4H5(1-CHLORO-7-METHOXY-9H-BETA-CARBOLIN-9-YL)ACETONITRILE4yu2CI165
3RA5-(1,3-BENZODIOXOL-5-YLMETHYL)-2-(PHENYLAMINO)-4H-IMIDAZOL-4-ONE4azeBI165 N244
3RA5-(1,3-BENZODIOXOL-5-YLMETHYL)-2-(PHENYLAMINO)-4H-IMIDAZOL-4-ONE4azeCI165 N244
2K2PKC412N-[(5S,6R,7R,9R)-6-METHOXY-5-METHYL-14-OXO-6,7,8,9,15, 16-HEXAHYDRO-5H,14H-5,9-EPOXY-4B,9A,15- TRIAZADIBENZO[B,H]CYCLONONA[1,2,3,4-JKL]CYCLOPENTA[E]- AS-INDACEN-7-YL]-N-METHYLBENZAMIDE4nctAI165 N244
2K2PKC412N-[(5S,6R,7R,9R)-6-METHOXY-5-METHYL-14-OXO-6,7,8,9,15, 16-HEXAHYDRO-5H,14H-5,9-EPOXY-4B,9A,15- TRIAZADIBENZO[B,H]CYCLONONA[1,2,3,4-JKL]CYCLOPENTA[E]- AS-INDACEN-7-YL]-N-METHYLBENZAMIDE4nctBI165 N244
2K2PKC412N-[(5S,6R,7R,9R)-6-METHOXY-5-METHYL-14-OXO-6,7,8,9,15, 16-HEXAHYDRO-5H,14H-5,9-EPOXY-4B,9A,15- TRIAZADIBENZO[B,H]CYCLONONA[1,2,3,4-JKL]CYCLOPENTA[E]- AS-INDACEN-7-YL]-N-METHYLBENZAMIDE4nctCI165 N244
2K2PKC412N-[(5S,6R,7R,9R)-6-METHOXY-5-METHYL-14-OXO-6,7,8,9,15, 16-HEXAHYDRO-5H,14H-5,9-EPOXY-4B,9A,15- TRIAZADIBENZO[B,H]CYCLONONA[1,2,3,4-JKL]CYCLOPENTA[E]- AS-INDACEN-7-YL]-N-METHYLBENZAMIDE4nctDI165 N244
IIIPeptide ligand (ALA,ARG,PRO,GLY,THR,PRO,ALA,LEU)2wo6BY246 D287 R328


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Conservation information for LBS of DYRK1A
Multiple alignments for Q13627 in multiple species
LBSAA sequence# speciesSpecies
A186EQEWVAIKIIK4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
A195IKNKKAFLNQA4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
D287SIIHCDLKPEN4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
D307AIKIVDFGSSC4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
E203NQAQIEVRLLE4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
E239LCLVFEMLSYN4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
E291CDLKPENILLC4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
E353GCILVEMHTGE4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
E366FSGANEVDQMN3Homo sapiens, Mus musculus, Rattus norvegicus
E366FSGANEVDQMS1Xenopus tropicalis
F170IGKGSFGQVVK4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F196KNKKAFLNQAQ4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F238HLCLVFEMLSY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F326YIQSRFYRSPE4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
G166IDSLIGKGSFG4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
G168SLIGKGSFGQV4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
G171GKGSFGQVVKA4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
I165EIDSLIGKGSF4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
K167DSLIGKGSFGQ4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
K188EWVAIKIIKNK4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
K289IHCDLKPENIL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
K393APKARKFFEKL3Homo sapiens, Mus musculus, Rattus norvegicus
K393APKARKFFEKM1Xenopus tropicalis
L241LVFEMLSYNLY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
L294KPENILLCNPK4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
M240CLVFEMLSYNL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N244EMLSYNLYDLL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N292DLKPENILLCN4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N365LFSGANEVDQM4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
P290HCDLKPENILL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Q172KGSFGQVVKAY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Q323IYQYIQSRFYR4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
R325QYIQSRFYRSP4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
R328QSRFYRSPEVL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
S242VFEMLSYNLYD4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
S324YQYIQSRFYRS4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
V173GSFGQVVKAYD4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
V222MKYYIVHLKRH4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
V306SAIKIVDFGSS4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
V367SGANEVDQMNK3Homo sapiens, Mus musculus, Rattus norvegicus
V367SGANEVDQMSK1Xenopus tropicalis
Y243FEMLSYNLYDL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Y246LSYNLYDLLRN4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Y321QRIYQYIQSRF4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Y327IQSRFYRSPEV4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus


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