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 GAK
Gene summary
Basic gene Info.Gene symbolGAK
Gene namecyclin G associated kinase
SynonymsDNAJ26|DNAJC26
CytomapUCSC genome browser: 4p16
Type of geneprotein-coding
RefGenesNM_001286833.1,
NM_005255.2,
Descriptionauxilin-2cyclin-G-associated kinase
Modification date20141207
dbXrefs MIM : 602052
HGNC : HGNC
Ensembl : ENSG00000178950
HPRD : 03631
Vega : OTTHUMG00000088301
ProteinUniProt: O14976
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GAK
BioGPS: 2580
PathwayNCI Pathway Interaction Database: GAK
KEGG: GAK
REACTOME: GAK
Pathway Commons: GAK
ContextiHOP: GAK
ligand binding site mutation search in PubMed: GAK
UCL Cancer Institute: GAK
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


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Ligand binding site mutations for GAK
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
M89F88LBRCA1
C190C190FLUAD1
S144S144LLUSC1
E85E85KSKCM1
S144S144LSKCM1
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 GAK
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
E85E85K-1.3115761
C190C190F-1.002534
M89F88L-0.68417348
S144S144L-0.46792341
(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 GAK from PDB

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Differential gene expression and gene-gene network for GAK
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 GAK and the right PPI network was created from samples without mutations in the LBS of GAK. 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 GAK
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0030567Parkinson Disease3Biomarker, GeneticVariation

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

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Pharmacological information for GAK
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GAK go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FEFINDIRUBIN DERIVATIVE E8044c57AC190
FEFINDIRUBIN DERIVATIVE E8044c57BC190
FEFINDIRUBIN DERIVATIVE E8044c59AC190
8249-HYDROXY-4-PHENYL-6H-PYRROLO[3,4-C]CARBAZOLE-1,3-DIONE4c58AE85 M89 C190


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Conservation information for LBS of GAK
Multiple alignments for O14976 in multiple species
LBSAA sequence# speciesSpecies
A47VRRVLAEGGFA3Homo sapiens, Mus musculus, Rattus norvegicus
A67SGREYALKRLL3Homo sapiens, Mus musculus, Rattus norvegicus
C126LLTELCKGQLV3Homo sapiens, Mus musculus, Rattus norvegicus
C145KGPLSCDSILK2Mus musculus, Rattus norvegicus
C145RGPLSCDTVLK1Homo sapiens
C190GTIKLCDFGSA3Homo sapiens, Mus musculus, Rattus norvegicus
D191TIKLCDFGSAT3Homo sapiens, Mus musculus, Rattus norvegicus
E124FLLLTELCKGQ3Homo sapiens, Mus musculus, Rattus norvegicus
E177RDLKVENLLLS3Homo sapiens, Mus musculus, Rattus norvegicus
E56FAFVYEAQDLG2Mus musculus, Rattus norvegicus
E56FAFVYEAQDVG1Homo sapiens
E65LGSGREYALKR2Mus musculus, Rattus norvegicus
E65VGSGREYALKR1Homo sapiens
E85RAIIQEVCFLK2Mus musculus, Rattus norvegicus
E85RAIIQEVCFMK1Homo sapiens
G128TELCKGQLVEF3Homo sapiens, Mus musculus, Rattus norvegicus
K127LTELCKGQLVE3Homo sapiens, Mus musculus, Rattus norvegicus
K69REYALKRLLSN3Homo sapiens, Mus musculus, Rattus norvegicus
L125LLLTELCKGQL3Homo sapiens, Mus musculus, Rattus norvegicus
L180KVENLLLSNQG3Homo sapiens, Mus musculus, Rattus norvegicus
L46RVRRVLAEGGF3Homo sapiens, Mus musculus, Rattus norvegicus
M89QEVCFLKKLSG2Mus musculus, Rattus norvegicus
M89QEVCFMKKLSG1Homo sapiens
N178DLKVENLLLSN3Homo sapiens, Mus musculus, Rattus norvegicus
Q129ELCKGQLVEFL3Homo sapiens, Mus musculus, Rattus norvegicus
Q284PVNDTRYTVFH2Mus musculus, Rattus norvegicus
Q284PPHDTQYTVFH1Homo sapiens
Q58FVYEAQDLGSG2Mus musculus, Rattus norvegicus
Q58FVYEAQDVGSG1Homo sapiens
R43LRLRVRRVLAE3Homo sapiens, Mus musculus, Rattus norvegicus
R44RLRVRRVLAEG3Homo sapiens, Mus musculus, Rattus norvegicus
S144CKGPLSCDSIL2Mus musculus, Rattus norvegicus
S144SRGPLSCDTVL1Homo sapiens
T123EFLLLTELCKG3Homo sapiens, Mus musculus, Rattus norvegicus
V54GGFAFVYEAQD3Homo sapiens, Mus musculus, Rattus norvegicus


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