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mutLBSgeneDB |
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| Gene summary for KAT6A |
 Gene summary |
| Basic gene Info. | Gene symbol | KAT6A |
| Gene name | K(lysine) acetyltransferase 6A | |
| Synonyms | MOZ|MYST3|RUNXBP2|ZC2HC6A|ZNF220 | |
| Cytomap | UCSC genome browser: 8p11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001099412.1, NM_001099413.1,NM_006766.3, | |
| Description | MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3MYST histone acetyltransferase (monocytic leukemia) 3MYST-3Monocytic leukemia zinc finger proteinhistone acetyltransferase KAT6Ahistone acetyltransferase MYST3runt-related transcription factor binding protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601408 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000083168 | ||
| HPRD : 03244 | ||
| Vega : OTTHUMG00000150453 | ||
| Protein | UniProt: Q92794 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KAT6A | |
| BioGPS: 7994 | ||
| Pathway | NCI Pathway Interaction Database: KAT6A | |
| KEGG: KAT6A | ||
| REACTOME: KAT6A | ||
| Pathway Commons: KAT6A | ||
| Context | iHOP: KAT6A | |
| ligand binding site mutation search in PubMed: KAT6A | ||
| UCL Cancer Institute: KAT6A | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006473 | protein acetylation | 23431171 | GO:0016573 | histone acetylation | 11742995 | GO:0030099 | myeloid cell differentiation | 11742995 | GO:0043966 | histone H3 acetylation | 16387653 | GO:0045892 | negative regulation of transcription, DNA-templated | 11742995 | GO:0045893 | positive regulation of transcription, DNA-templated | 11742995 |
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| Ligand binding site mutations for KAT6A |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M300 | R299S | LUAD | 1 | C209 | I208T | LUSC | 1 | C230 | S229F | SKCM | 1 | L686 | L686V | SKCM | 1 | K243 | S245Y | SKCM | 1 | C268 | R269Q | STAD | 1 | C310 | R311L | STAD | 1 | A275 | A275V | UCEC | 1 | C540 | L539F | UCEC | 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 KAT6A |
| 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 |
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| 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 | C268 | R269Q | -1.3482 | C540 | L539F | -1.3374679 | C209 | I208T | -1.194464 | M300 | R299S | -1.173272 | L686 | L686V | -0.88269844 | C230 | S229F | -0.82517296 | K243 | S245Y | -0.79258044 | C310 | R311L | -0.65624706 | A275 | A275V | -0.65399928 |
| (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 KAT6A from PDB |
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| Differential gene expression and gene-gene network for KAT6A |
| 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 KAT6A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0010606 | Carcinoma, Adenoid Cystic | 1 | Biomarker |
| umls:C0025149 | Medulloblastoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KAT6A |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KAT6A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA) | 3v43 | A | A275 M300 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA) | 4llb | A | A275 M300 | ZN | ZINC(2+) | 2ln0 | A | C209 | ZN | ZINC(2+) | 3v43 | A | C209 | ZN | ZINC(2+) | 4ljn | A | C209 | ZN | ZINC(2+) | 4lk9 | A | C209 | ZN | ZINC(2+) | 4lka | A | C209 | ZN | ZINC(2+) | 4llb | A | C209 | ZN | ZINC(2+) | 4llb | B | C209 | ZN | ZINC(2+) | 2ln0 | A | C230 | ZN | ZINC(2+) | 3v43 | A | C230 | ZN | ZINC(2+) | 4ljn | A | C230 | ZN | ZINC(2+) | 4lk9 | A | C230 | ZN | ZINC(2+) | 4lka | A | C230 | ZN | ZINC(2+) | 4llb | A | C230 | ZN | ZINC(2+) | 4llb | B | C230 | ZN | ZINC(2+) | 2ln0 | A | C268 | ZN | ZINC(2+) | 3v43 | A | C268 | ZN | ZINC(2+) | 4ljn | A | C268 | ZN | ZINC(2+) | 4lk9 | A | C268 | ZN | ZINC(2+) | 4lka | A | C268 | ZN | ZINC(2+) | 4llb | A | C268 | ZN | ZINC(2+) | 4llb | B | C268 | ZN | ZINC(2+) | 2ln0 | A | C310 | ZN | ZINC(2+) | 3v43 | A | C310 | ZN | ZINC(2+) | 4ljn | A | C310 | ZN | ZINC(2+) | 4lk9 | A | C310 | ZN | ZINC(2+) | 4lka | A | C310 | ZN | ZINC(2+) | 4llb | A | C310 | ZN | ZINC(2+) | 4llb | B | C310 | ZN | ZINC(2+) | 2ozu | A | C540 | ZN | ZINC(2+) | 2rc4 | A | C540 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY) | 4lk9 | A | K243 A275 M300 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY) | 4lka | A | K243 A275 M300 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA) | 4llb | B | K243 A275 M300 | ACO | ACETYL COENZYME *A | 2ozu | A | L686 | ACO | ACETYL COENZYME *A | 2rc4 | A | L686 |
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| Conservation information for LBS of KAT6A |
| Multiple alignments for Q92794 in multiple species |
| LBS | AA sequence | # species | Species |
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