mutLBSgeneDB |
Gene summary for GAK |
Gene summary |
Basic gene Info. | Gene symbol | GAK |
Gene name | cyclin G associated kinase | |
Synonyms | DNAJ26|DNAJC26 | |
Cytomap | UCSC genome browser: 4p16 | |
Type of gene | protein-coding | |
RefGenes | NM_001286833.1, NM_005255.2, | |
Description | auxilin-2cyclin-G-associated kinase | |
Modification date | 20141207 | |
dbXrefs | MIM : 602052 | |
HGNC : HGNC | ||
Ensembl : ENSG00000178950 | ||
HPRD : 03631 | ||
Vega : OTTHUMG00000088301 | ||
Protein | UniProt: O14976 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GAK | |
BioGPS: 2580 | ||
Pathway | NCI Pathway Interaction Database: GAK | |
KEGG: GAK | ||
REACTOME: GAK | ||
Pathway Commons: GAK | ||
Context | iHOP: GAK | |
ligand binding site mutation search in PubMed: GAK | ||
UCL Cancer Institute: GAK | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed 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 |
LBS | AAchange of nsSNV | Cancer type | # samples | M89 | F88L | BRCA | 1 | C190 | C190F | LUAD | 1 | S144 | S144L | LUSC | 1 | E85 | E85K | SKCM | 1 | S144 | S144L | SKCM | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | E85 | E85K | -1.3115761 | C190 | C190F | -1.002534 | M89 | F88L | -0.68417348 | S144 | S144L | -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) |
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Phenotype information for GAK |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0030567 | Parkinson Disease | 3 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of GAK go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FEF | INDIRUBIN DERIVATIVE E804 | 4c57 | A | C190 | FEF | INDIRUBIN DERIVATIVE E804 | 4c57 | B | C190 | FEF | INDIRUBIN DERIVATIVE E804 | 4c59 | A | C190 | 824 | 9-HYDROXY-4-PHENYL-6H-PYRROLO[3,4-C]CARBAZOLE-1,3-DIONE | 4c58 | A | E85 M89 C190 |
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Conservation information for LBS of GAK |
Multiple alignments for O14976 in multiple species |
LBS | AA sequence | # species | Species | A47 | VRRVLAEGGFA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A67 | SGREYALKRLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C126 | LLTELCKGQLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C145 | KGPLSCDSILK | 2 | Mus musculus, Rattus norvegicus | C145 | RGPLSCDTVLK | 1 | Homo sapiens | C190 | GTIKLCDFGSA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D191 | TIKLCDFGSAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E124 | FLLLTELCKGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E177 | RDLKVENLLLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E56 | FAFVYEAQDLG | 2 | Mus musculus, Rattus norvegicus | E56 | FAFVYEAQDVG | 1 | Homo sapiens | E65 | LGSGREYALKR | 2 | Mus musculus, Rattus norvegicus | E65 | VGSGREYALKR | 1 | Homo sapiens | E85 | RAIIQEVCFLK | 2 | Mus musculus, Rattus norvegicus | E85 | RAIIQEVCFMK | 1 | Homo sapiens | G128 | TELCKGQLVEF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K127 | LTELCKGQLVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K69 | REYALKRLLSN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L125 | LLLTELCKGQL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L180 | KVENLLLSNQG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L46 | RVRRVLAEGGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M89 | QEVCFLKKLSG | 2 | Mus musculus, Rattus norvegicus | M89 | QEVCFMKKLSG | 1 | Homo sapiens | N178 | DLKVENLLLSN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q129 | ELCKGQLVEFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q284 | PVNDTRYTVFH | 2 | Mus musculus, Rattus norvegicus | Q284 | PPHDTQYTVFH | 1 | Homo sapiens | Q58 | FVYEAQDLGSG | 2 | Mus musculus, Rattus norvegicus | Q58 | FVYEAQDVGSG | 1 | Homo sapiens | R43 | LRLRVRRVLAE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R44 | RLRVRRVLAEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S144 | CKGPLSCDSIL | 2 | Mus musculus, Rattus norvegicus | S144 | SRGPLSCDTVL | 1 | Homo sapiens | T123 | EFLLLTELCKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V54 | GGFAFVYEAQD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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