CR2Cancer

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF01853 MOZ/SAS family
PF00628 PHD-finger

Function

Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML.

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write	Histone acetylation	H3, H4	H3ac, H4ac	11313971

> Gene Ontology [ TOP ]
Biological Process	GO:0006323 DNA packaging GO:0006333 chromatin assembly or disassembly GO:0006334 nucleosome assembly GO:0006473 protein acetylation GO:0006475 internal protein amino acid acetylation GO:0007568 aging GO:0007569 cell aging GO:0016570 histone modification GO:0016573 histone acetylation GO:0018205 peptidyl-lysine modification GO:0018393 internal peptidyl-lysine acetylation GO:0018394 peptidyl-lysine acetylation GO:0030099 myeloid cell differentiation GO:0031497 chromatin assembly GO:0034728 nucleosome organization GO:0043543 protein acylation GO:0043966 histone H3 acetylation GO:0065004 protein-DNA complex assembly GO:0071103 DNA conformation change GO:0071824 protein-DNA complex subunit organization GO:0072331 signal transduction by p53 class mediator GO:0090398 cellular senescence GO:1901796 regulation of signal transduction by p53 class mediator
Molecular Function	GO:0003713 transcription coactivator activity GO:0004402 histone acetyltransferase activity GO:0008080 N-acetyltransferase activity GO:0008134 transcription factor binding GO:0016407 acetyltransferase activity GO:0016410 N-acyltransferase activity GO:0016746 transferase activity, transferring acyl groups GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups GO:0034212 peptide N-acetyltransferase activity GO:0061733 peptide-lysine-N-acetyltransferase activity
Cellular Component	GO:0000123 histone acetyltransferase complex GO:0000785 chromatin GO:0000786 nucleosome GO:0016604 nuclear body GO:0016605 PML body GO:0031248 protein acetyltransferase complex GO:0032993 protein-DNA complex GO:0044815 DNA packaging complex GO:0070775 H3 histone acetyltransferase complex GO:0070776 MOZ/MORF histone acetyltransferase complex GO:1902493 acetyltransferase complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04550 Signaling pathways regulating pluripotency of stem cells
Reactome	R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-74160: Gene Expression R-HSA-212436: Generic Transcription Pathway R-HSA-3214847: HATs acetylate histones R-HSA-5633007: Regulation of TP53 Activity R-HSA-6804758: Regulation of TP53 Activity through Acetylation R-HSA-3700989: Transcriptional Regulation by TP53

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM235015	c.2193C>T	p.L731L	Substitution - coding silent	Skin
COSM1700048	c.2116C>T	p.Q706*	Substitution - Nonsense	Skin
COSM5734920	c.5777G>A	p.R1926Q	Substitution - Missense	Pancreas
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM5757217	c.3720G>T	p.E1240D	Substitution - Missense	Large_intestine
COSM1099953	c.1482+2T>C	p.?	Unknown	Endometrium
COSM3669907	c.458G>A	p.R153H	Substitution - Missense	Liver
COSM750338	c.1362A>T	p.T454T	Substitution - coding silent	Lung
COSM3663765	c.3798G>A	p.K1266K	Substitution - coding silent	Liver
COSM1099928	c.3386G>A	p.R1129Q	Substitution - Missense	Large_intestine
COSM4602831	c.4916T>C	p.V1639A	Substitution - Missense	Upper_aerodigestive_tract
COSM3900255	c.428T>G	p.F143C	Substitution - Missense	Stomach
COSM4997293	c.947G>C	p.G316A	Substitution - Missense	Pituitary
COSM3649300	c.2853C>G	p.L951L	Substitution - coding silent	Skin
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM1099951	c.1529C>G	p.S510C	Substitution - Missense	Endometrium
COSM3834737	c.3013C>A	p.L1005I	Substitution - Missense	Breast
COSM5601664	c.4136C>T	p.S1379F	Substitution - Missense	Skin
COSM5037461	c.2204G>A	p.R735Q	Substitution - Missense	Large_intestine
COSM313086	c.473G>A	p.G158D	Substitution - Missense	Soft_tissue
COSM1673881	c.5240C>A	p.P1747Q	Substitution - Missense	Large_intestine
COSM188277	c.2591G>A	p.R864Q	Substitution - Missense	Kidney
COSM3730486	c.2934G>A	p.R978R	Substitution - coding silent	Stomach
COSM3834738	c.1301C>G	p.S434C	Substitution - Missense	Breast
COSM3649305	c.1428C>T	p.I476I	Substitution - coding silent	Skin
COSM188277	c.2591G>A	p.R864Q	Substitution - Missense	Large_intestine
COSM3703405	c.3178A>G	p.R1060G	Substitution - Missense	Liver
COSM5923814	c.4336T>A	p.C1446S	Substitution - Missense	Skin
COSM188274	c.4427C>T	p.A1476V	Substitution - Missense	Large_intestine
COSM1457132	c.3727delG	p.D1243fs*51	Deletion - Frameshift	Large_intestine
COSM5799851	c.1502C>A	p.P501H	Substitution - Missense	Breast
COSM5063212	c.2214C>T	p.D738D	Substitution - coding silent	Stomach
COSM4495064	c.4454C>T	p.S1485F	Substitution - Missense	Skin
COSM2961700	c.3497G>T	p.R1166I	Substitution - Missense	Large_intestine
COSM78139	c.2019A>C	p.E673D	Substitution - Missense	Ovary
COSM3996065	c.3198G>T	p.E1066D	Substitution - Missense	Kidney
COSM4433506	c.4324G>T	p.A1442S	Substitution - Missense	Oesophagus
COSM1132744	c.2344T>G	p.S782A	Substitution - Missense	Prostate
COSM325900	c.1398T>A	p.N466K	Substitution - Missense	Lung
COSM750341	c.2259C>T	p.I753I	Substitution - coding silent	Lung
COSM750342	c.2629G>T	p.E877*	Substitution - Nonsense	Lung
COSM5952036	c.12C>T	p.L4L	Substitution - coding silent	Oesophagus
COSM1099930	c.3270G>A	p.S1090S	Substitution - coding silent	Endometrium
COSM40361	c.1575C>T	p.S525S	Substitution - coding silent	Central_nervous_system
COSM3649306	c.1411T>C	p.F471L	Substitution - Missense	Skin
COSM3900245	c.2863C>A	p.P955T	Substitution - Missense	Stomach
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM327857	c.3071G>C	p.R1024P	Substitution - Missense	Skin
COSM1197530	c.5668G>A	p.A1890T	Substitution - Missense	Lung
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Large_intestine
COSM276244	c.2915G>A	p.R972H	Substitution - Missense	Large_intestine
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Skin
COSM4437159	c.110C>A	p.S37Y	Substitution - Missense	Oesophagus
COSM255263	c.2981C>T	p.P994L	Substitution - Missense	Central_nervous_system
COSM1643602	c.2046G>A	p.P682P	Substitution - coding silent	Stomach
COSM1258624	c.1270C>T	p.R424W	Substitution - Missense	Oesophagus
COSM1624022	c.4772G>T	p.G1591V	Substitution - Missense	Liver
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM5427331	c.1968G>A	p.K656K	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4694062	c.432C>T	p.H144H	Substitution - coding silent	Large_intestine
COSM85115	c.76C>T	p.R26C	Substitution - Missense	Pancreas
COSM325901	c.3632T>G	p.V1211G	Substitution - Missense	Lung
COSM1700047	c.3865G>T	p.E1289*	Substitution - Nonsense	Skin
COSM1755725	c.5121G>A	p.M1707I	Substitution - Missense	Urinary_tract
COSM4993088	c.2625C>T	p.T875T	Substitution - coding silent	Skin
COSM4829434	c.2477C>G	p.S826C	Substitution - Missense	Cervix
COSM110236	c.1069C>T	p.R357*	Substitution - Nonsense	Skin
COSM5764745	c.4892G>A	p.S1631N	Substitution - Missense	Large_intestine
COSM1700045	c.5162C>T	p.P1721L	Substitution - Missense	Skin
COSM5563822	c.1665G>A	p.Q555Q	Substitution - coding silent	Prostate
COSM5472591	c.4767C>T	p.Y1589Y	Substitution - coding silent	Large_intestine
COSM71773	c.1367A>G	p.N456S	Substitution - Missense	Ovary
COSM3900236	c.5189G>T	p.S1730I	Substitution - Missense	Stomach
COSM1643601	c.5378A>G	p.Q1793R	Substitution - Missense	Stomach
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM379452	c.3691G>A	p.A1231T	Substitution - Missense	Lung
COSM4753610	c.4833C>A	p.S1611R	Substitution - Missense	Stomach
COSM4753614	c.1139A>C	p.E380A	Substitution - Missense	Stomach
COSM2961684	c.4606C>T	p.P1536S	Substitution - Missense	Large_intestine
COSM4903655	c.1138G>A	p.E380K	Substitution - Missense	Skin
COSM4753614	c.1139A>C	p.E380A	Substitution - Missense	Oesophagus
COSM5778529	c.5793G>A	p.M1931I	Substitution - Missense	Breast
COSM360434	c.1123G>T	p.A375S	Substitution - Missense	Lung
COSM1216524	c.2096T>C	p.I699T	Substitution - Missense	Large_intestine
COSM5979525	c.2689G>C	p.E897Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5461311	c.4645G>A	p.G1549S	Substitution - Missense	Large_intestine
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM1673881	c.5240C>A	p.P1747Q	Substitution - Missense	Large_intestine
COSM136663	c.3613C>T	p.Q1205*	Substitution - Nonsense	Skin
COSM1730771	c.3443A>T	p.K1148M	Substitution - Missense	Liver
COSM2961647	c.5868A>G	p.G1956G	Substitution - coding silent	Upper_aerodigestive_tract
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Thyroid
COSM4171816	c.2816G>C	p.R939T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5409622	c.2592G>A	p.R864R	Substitution - coding silent	Skin
COSM3649295	c.4008C>T	p.P1336P	Substitution - coding silent	Skin
COSM5950195	c.1740+4A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM4138708	c.2717C>T	p.S906L	Substitution - Missense	Kidney
COSM1099943	c.2398G>A	p.E800K	Substitution - Missense	Endometrium
COSM5358724	c.3871C>T	p.Q1291*	Substitution - Nonsense	Large_intestine
COSM3685393	c.5073A>T	p.P1691P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5475179	c.2597G>A	p.G866D	Substitution - Missense	Large_intestine
COSM4767594	c.3839C>A	p.S1280*	Substitution - Nonsense	Biliary_tract
COSM5796943	c.2277G>T	p.K759N	Substitution - Missense	Breast
COSM3432438	c.932G>A	p.R311Q	Substitution - Missense	Stomach
COSM5889050	c.5206C>T	p.P1736S	Substitution - Missense	Skin
COSM4753615	c.1138G>T	p.E380*	Substitution - Nonsense	Oesophagus
COSM3900256	c.405C>A	p.F135L	Substitution - Missense	Stomach
COSM1258623	c.4145C>T	p.T1382M	Substitution - Missense	Stomach
COSM1457133	c.2912G>A	p.R971H	Substitution - Missense	Large_intestine
COSM1457139	c.1572C>T	p.S524S	Substitution - coding silent	Large_intestine
COSM4694054	c.3946G>A	p.A1316T	Substitution - Missense	Large_intestine
COSM173599	c.4222G>A	p.E1408K	Substitution - Missense	Large_intestine
COSM361307	c.3664G>T	p.E1222*	Substitution - Nonsense	Lung
COSM4993086	c.5299C>T	p.H1767Y	Substitution - Missense	Skin
COSM1700049	c.2009C>T	p.S670L	Substitution - Missense	Skin
COSM3649302	c.2176G>A	p.D726N	Substitution - Missense	Skin
COSM5690950	c.2806C>T	p.P936S	Substitution - Missense	Soft_tissue
COSM298010	c.3593C>T	p.A1198V	Substitution - Missense	Large_intestine
COSM750336	c.1190A>G	p.N397S	Substitution - Missense	Lung
COSM5409621	c.2741C>T	p.T914I	Substitution - Missense	Skin
COSM750346	c.5563A>T	p.I1855F	Substitution - Missense	Lung
COSM4428344	c.2534G>A	p.R845H	Substitution - Missense	Oesophagus
COSM5010052	c.1520G>A	p.R507H	Substitution - Missense	Large_intestine
COSM3900233	c.5742G>A	p.M1914I	Substitution - Missense	Stomach
COSM235015	c.2193C>T	p.L731L	Substitution - coding silent	Skin
COSM1700046	c.4592C>T	p.P1531L	Substitution - Missense	Skin
COSM1330978	c.4261G>C	p.D1421H	Substitution - Missense	Ovary
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM1457129	c.5684G>A	p.R1895H	Substitution - Missense	Large_intestine
COSM5738334	c.3960T>G	p.D1320E	Substitution - Missense	Small_intestine
COSM1216526	c.3893C>T	p.P1298L	Substitution - Missense	Large_intestine
COSM4694058	c.2977_2979delGAG	p.E993delE	Deletion - In frame	Soft_tissue
COSM3900249	c.2114A>C	p.H705P	Substitution - Missense	Stomach
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM162771	c.5920G>A	p.G1974R	Substitution - Missense	Breast
COSM3900246	c.2546A>G	p.Q849R	Substitution - Missense	Stomach
COSM1099935	c.2843G>A	p.R948Q	Substitution - Missense	Endometrium
COSM5512479	c.5098C>T	p.P1700S	Substitution - Missense	Biliary_tract
COSM3649299	c.3429C>A	p.S1143S	Substitution - coding silent	Skin
COSM1624026	c.2600G>T	p.R867L	Substitution - Missense	Liver
COSM5358724	c.3871C>T	p.Q1291*	Substitution - Nonsense	Large_intestine
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Breast
COSM4791438	c.4007C>T	p.P1336L	Substitution - Missense	Liver
COSM1099913	c.4707C>T	p.Y1569Y	Substitution - coding silent	Endometrium
COSM3900239	c.4367T>C	p.L1456P	Substitution - Missense	Stomach
COSM3663764	c.4997C>T	p.P1666L	Substitution - Missense	Liver
COSM1099907	c.5102C>T	p.P1701L	Substitution - Missense	Endometrium
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM1099945	c.2144A>C	p.K715T	Substitution - Missense	Endometrium
COSM1330977	c.3527G>C	p.S1176T	Substitution - Missense	Ovary
COSM162771	c.5920G>A	p.G1974R	Substitution - Missense	Breast
COSM4606483	c.5539G>T	p.G1847W	Substitution - Missense	Large_intestine
COSM4656462	c.4869C>T	p.S1623S	Substitution - coding silent	Large_intestine
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM1457131	c.5078_5079insC	p.P1694fs*13	Insertion - Frameshift	Large_intestine
COSM4694058	c.2977_2979delGAG	p.E993delE	Deletion - In frame	Large_intestine
COSM3900237	c.4742G>A	p.S1581N	Substitution - Missense	Stomach
COSM4544036	c.3489G>A	p.W1163*	Substitution - Nonsense	Skin
COSM5576205	c.2842C>T	p.R948*	Substitution - Nonsense	Stomach
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Skin
COSM5811372	c.3369G>A	p.K1123K	Substitution - coding silent	Liver
COSM5988090	c.4219A>G	p.I1407V	Substitution - Missense	Salivary_gland
COSM4937921	c.1664A>G	p.Q555R	Substitution - Missense	Liver
COSM3900238	c.4709A>T	p.D1570V	Substitution - Missense	Stomach
COSM5218315	c.3865_3867delGAG	p.E1289delE	Deletion - In frame	Breast
COSM276243	c.4487C>T	p.S1496L	Substitution - Missense	Large_intestine
COSM750335	c.1108C>T	p.L370F	Substitution - Missense	Lung
COSM4993087	c.4610C>T	p.S1537F	Substitution - Missense	Skin
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Large_intestine
COSM1099957	c.1183G>T	p.D395Y	Substitution - Missense	Endometrium
COSM5817096	c.4984C>T	p.P1662S	Substitution - Missense	Liver
COSM4880010	c.1534A>G	p.I512V	Substitution - Missense	Prostate
COSM1099941	c.2647G>T	p.D883Y	Substitution - Missense	Endometrium
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM1176468	c.4654G>T	p.D1552Y	Substitution - Missense	Endometrium
COSM2961647	c.5868A>G	p.G1956G	Substitution - coding silent	Upper_aerodigestive_tract
COSM3649308	c.686C>T	p.S229F	Substitution - Missense	Skin
COSM3900250	c.1279C>T	p.R427W	Substitution - Missense	Stomach
COSM1178314	c.1364-2A>T	p.?	Unknown	Prostate
COSM1099924	c.4192G>A	p.E1398K	Substitution - Missense	Endometrium
COSM2961748	c.746C>T	p.T249M	Substitution - Missense	Large_intestine
COSM2961742	c.994A>G	p.T332A	Substitution - Missense	Stomach
COSM173599	c.4222G>A	p.E1408K	Substitution - Missense	Large_intestine
COSM1673880	c.5629C>T	p.R1877C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4431020	c.4614A>G	p.V1538V	Substitution - coding silent	Oesophagus
COSM750337	c.1340C>G	p.S447*	Substitution - Nonsense	Lung
COSM1457133	c.2912G>A	p.R971H	Substitution - Missense	Pancreas
COSM3649304	c.1456C>T	p.R486C	Substitution - Missense	Skin
COSM4694061	c.1096C>T	p.R366*	Substitution - Nonsense	Large_intestine
COSM5423060	c.1900A>T	p.K634*	Substitution - Nonsense	Prostate
COSM4923320	c.2586A>G	p.P862P	Substitution - coding silent	Liver
COSM1099928	c.3386G>A	p.R1129Q	Substitution - Missense	Endometrium
COSM2961643	c.5937A>T	p.T1979T	Substitution - coding silent	Upper_aerodigestive_tract
COSM1099937	c.2833G>A	p.E945K	Substitution - Missense	Endometrium
COSM3728123	c.4766A>G	p.Y1589C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2961645	c.5910T>A	p.P1970P	Substitution - coding silent	Upper_aerodigestive_tract
COSM3649309	c.209C>T	p.S70F	Substitution - Missense	Skin
COSM1624025	c.2601C>T	p.R867R	Substitution - coding silent	Liver
COSM162771	c.5920G>A	p.G1974R	Substitution - Missense	Breast
COSM1187530	c.3943G>A	p.D1315N	Substitution - Missense	Lung
COSM4694059	c.2790C>T	p.D930D	Substitution - coding silent	Large_intestine
COSM5009136	c.4692G>T	p.E1564D	Substitution - Missense	Large_intestine
COSM5757217	c.3720G>T	p.E1240D	Substitution - Missense	Large_intestine
COSM1099899	c.5370A>C	p.G1790G	Substitution - coding silent	Endometrium
COSM4908514	c.3181T>A	p.L1061I	Substitution - Missense	Kidney
COSM422121	c.3244A>G	p.R1082G	Substitution - Missense	Urinary_tract
COSM5041508	c.355A>C	p.K119Q	Substitution - Missense	Liver
COSM486470	c.4164G>C	p.Q1388H	Substitution - Missense	Kidney
COSM1197530	c.5668G>A	p.A1890T	Substitution - Missense	Lung
COSM269679	c.5064G>A	p.Q1688Q	Substitution - coding silent	Large_intestine
COSM1099928	c.3386G>A	p.R1129Q	Substitution - Missense	Endometrium
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM2961658	c.5572C>T	p.R1858C	Substitution - Missense	Stomach
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM5728500	c.244C>T	p.L82F	Substitution - Missense	Skin
COSM5009140	c.2103G>A	p.E701E	Substitution - coding silent	Large_intestine
COSM4487881	c.3240C>T	p.F1080F	Substitution - coding silent	Skin
COSM5898952	c.4748C>T	p.S1583F	Substitution - Missense	Skin
COSM5625364	c.3187C>A	p.P1063T	Substitution - Missense	Oesophagus
COSM5757218	c.2711A>G	p.E904G	Substitution - Missense	Large_intestine
COSM5030177	c.3754G>A	p.A1252T	Substitution - Missense	Bone
COSM5884710	c.3106G>A	p.E1036K	Substitution - Missense	Soft_tissue
COSM3900253	c.751C>T	p.R251*	Substitution - Nonsense	Stomach
COSM110236	c.1069C>T	p.R357*	Substitution - Nonsense	Skin
COSM1624024	c.3401A>G	p.K1134R	Substitution - Missense	Liver
COSM1099889	c.5982G>A	p.K1994K	Substitution - coding silent	Endometrium
COSM1099965	c.4G>A	p.V2I	Substitution - Missense	Endometrium
COSM3900253	c.751C>T	p.R251*	Substitution - Nonsense	Soft_tissue
COSM188275	c.3201C>T	p.I1067I	Substitution - coding silent	Endometrium
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM750333	c.883C>G	p.P295A	Substitution - Missense	Lung
COSM5518836	c.4629G>A	p.Q1543Q	Substitution - coding silent	Biliary_tract
COSM2961645	c.5910T>A	p.P1970P	Substitution - coding silent	Upper_aerodigestive_tract
COSM3900242	c.3528T>A	p.S1176R	Substitution - Missense	Stomach
COSM1258619	c.3026C>T	p.T1009M	Substitution - Missense	Oesophagus
COSM4941468	c.1538A>G	p.E513G	Substitution - Missense	Liver
COSM1099963	c.824C>T	p.A275V	Substitution - Missense	Large_intestine
COSM2961712	c.2259C>G	p.I753M	Substitution - Missense	Large_intestine
COSM1258622	c.5630G>A	p.R1877H	Substitution - Missense	Stomach
COSM3649297	c.3586C>T	p.P1196S	Substitution - Missense	Skin
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Skin
COSM1216526	c.3893C>T	p.P1298L	Substitution - Missense	Skin
COSM283084	c.5965G>A	p.A1989T	Substitution - Missense	Large_intestine
COSM3900235	c.5453C>T	p.S1818F	Substitution - Missense	Stomach
COSM750339	c.1603C>T	p.P535S	Substitution - Missense	Upper_aerodigestive_tract
COSM360434	c.1123G>T	p.A375S	Substitution - Missense	Stomach
COSM5023389	c.2966_2968delAGG	p.E993delE	Deletion - In frame	Bone
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM3649294	c.4364C>T	p.T1455I	Substitution - Missense	Skin
COSM5628717	c.3257G>T	p.R1086L	Substitution - Missense	Oesophagus
COSM1099893	c.5530A>C	p.R1844R	Substitution - coding silent	Endometrium
COSM188275	c.3201C>T	p.I1067I	Substitution - coding silent	Stomach
COSM3900251	c.1131A>G	p.S377S	Substitution - coding silent	Stomach
COSM5020539	c.147A>G	p.E49E	Substitution - coding silent	Soft_tissue
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Stomach
COSM4608017	c.5761G>T	p.A1921S	Substitution - Missense	Adrenal_gland
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM5991842	c.4055delT	p.L1352fs*1	Deletion - Frameshift	Prostate
COSM4843404	c.5972G>A	p.G1991D	Substitution - Missense	Cervix
COSM3649291	c.5386C>T	p.P1796S	Substitution - Missense	Skin
COSM360433	c.4754G>T	p.S1585I	Substitution - Missense	Lung
COSM5463727	c.4952C>A	p.P1651Q	Substitution - Missense	Large_intestine
COSM750343	c.2996C>G	p.S999*	Substitution - Nonsense	Lung
COSM6013146	c.2311C>T	p.P771S	Substitution - Missense	Skin
COSM1239540	c.4673G>A	p.S1558N	Substitution - Missense	Oesophagus
COSM3900243	c.3244A>C	p.R1082R	Substitution - coding silent	Stomach
COSM4982812	c.525C>T	p.N175N	Substitution - coding silent	Oesophagus
COSM2961650	c.5772C>T	p.S1924S	Substitution - coding silent	Upper_aerodigestive_tract
COSM1099959	c.1094A>C	p.K365T	Substitution - Missense	Endometrium
COSM4611233	c.1251delT	p.F417fs*61	Deletion - Frameshift	Large_intestine
COSM3779231	c.191C>G	p.S64*	Substitution - Nonsense	Urinary_tract
COSM5665391	c.783G>T	p.E261D	Substitution - Missense	Soft_tissue
COSM750334	c.1087G>T	p.G363C	Substitution - Missense	Lung
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM3396732	c.768G>T	p.R256R	Substitution - coding silent	Prostate
COSM750332	c.623T>C	p.I208T	Substitution - Missense	Lung
COSM3996064	c.3796A>C	p.K1266Q	Substitution - Missense	Kidney
COSM3649307	c.1101A>T	p.K367N	Substitution - Missense	Skin
COSM4993089	c.1840C>T	p.L614F	Substitution - Missense	Skin
COSM224958	c.2390G>A	p.G797E	Substitution - Missense	Skin
COSM5427331	c.1968G>A	p.K656K	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5926627	c.5485C>T	p.Q1829*	Substitution - Nonsense	Skin
COSM5575806	c.4618G>A	p.D1540N	Substitution - Missense	Stomach
COSM1624024	c.3401A>G	p.K1134R	Substitution - Missense	Liver
COSM4945774	c.4393G>T	p.D1465Y	Substitution - Missense	Liver
COSM2961646	c.5877G>A	p.G1959G	Substitution - coding silent	Upper_aerodigestive_tract
COSM1187530	c.3943G>A	p.D1315N	Substitution - Missense	Large_intestine
COSM5563822	c.1665G>A	p.Q555Q	Substitution - coding silent	Prostate
COSM4186146	c.3522G>T	p.K1174N	Substitution - Missense	Kidney
COSM4606483	c.5539G>T	p.G1847W	Substitution - Missense	Large_intestine
COSM5409623	c.855C>T	p.D285D	Substitution - coding silent	Skin
COSM3649303	c.2166C>T	p.I722I	Substitution - coding silent	Skin
COSM5347548	c.3077_3087del11	p.R1026fs*2	Deletion - Frameshift	Liver
COSM4836594	c.2992C>T	p.R998W	Substitution - Missense	Cervix
COSM1099955	c.1437G>T	p.E479D	Substitution - Missense	Endometrium
COSM5738335	c.1262C>A	p.P421H	Substitution - Missense	Small_intestine
COSM1673880	c.5629C>T	p.R1877C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM1624023	c.4504G>A	p.V1502M	Substitution - Missense	Liver
COSM3983753	c.4108G>A	p.E1370K	Substitution - Missense	Oesophagus
COSM227783	c.1511C>T	p.P504L	Substitution - Missense	Skin
COSM3649296	c.3756C>T	p.A1252A	Substitution - coding silent	Skin
COSM4437159	c.110C>A	p.S37Y	Substitution - Missense	Cervix
COSM1258618	c.1133C>G	p.S378*	Substitution - Nonsense	Stomach
COSM1730929	c.3481A>G	p.I1161V	Substitution - Missense	Liver
COSM4694055	c.3807_3808insCCA	p.E1269_V1270insP	Insertion - In frame	Large_intestine
COSM2961645	c.5910T>A	p.P1970P	Substitution - coding silent	Upper_aerodigestive_tract
COSM5922681	c.3241C>T	p.P1081S	Substitution - Missense	Skin
COSM1099947	c.2063G>A	p.R688H	Substitution - Missense	Endometrium
COSM1314057	c.4213G>A	p.E1405K	Substitution - Missense	Urinary_tract
COSM5498560	c.355A>G	p.K119E	Substitution - Missense	Biliary_tract
COSM188273	c.5722G>A	p.A1908T	Substitution - Missense	Large_intestine
COSM3900244	c.3035G>A	p.R1012Q	Substitution - Missense	Stomach
COSM1314058	c.3379C>G	p.L1127V	Substitution - Missense	Urinary_tract
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM3727435	c.4736G>A	p.G1579E	Substitution - Missense	Skin
COSM5020145	c.1488T>C	p.V496V	Substitution - coding silent	Soft_tissue
COSM390322	c.4720G>T	p.G1574C	Substitution - Missense	Lung
COSM4694058	c.2977_2979delGAG	p.E993delE	Deletion - In frame	Soft_tissue
COSM4776934	c.1133C>T	p.S378L	Substitution - Missense	Breast
COSM5134633	c.4989_4991delGCC	p.P1664delP	Deletion - In frame	Large_intestine
COSM5063211	c.4806C>T	p.S1602S	Substitution - coding silent	Stomach
COSM4791438	c.4007C>T	p.P1336L	Substitution - Missense	Liver
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Large_intestine
COSM5606649	c.1689C>T	p.F563F	Substitution - coding silent	Skin
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Large_intestine
COSM4993084	c.5739C>T	p.S1913S	Substitution - coding silent	Skin
COSM1099933	c.3122C>T	p.T1041I	Substitution - Missense	Endometrium
COSM5885870	c.644delC	p.T215fs*28	Deletion - Frameshift	Urinary_tract
COSM605677	c.1305G>A	p.E435E	Substitution - coding silent	Large_intestine
COSM1099935	c.2843G>A	p.R948Q	Substitution - Missense	Stomach
COSM1099911	c.4708G>A	p.D1570N	Substitution - Missense	Endometrium
COSM4802957	c.3127G>T	p.E1043*	Substitution - Nonsense	Liver
COSM4138709	c.280A>G	p.K94E	Substitution - Missense	Kidney
COSM4490577	c.3660C>T	p.P1220P	Substitution - coding silent	Skin
COSM5952075	c.1504C>T	p.P502S	Substitution - Missense	Oesophagus
COSM1099915	c.4660G>T	p.G1554C	Substitution - Missense	Endometrium
COSM313087	c.2836C>G	p.P946A	Substitution - Missense	Lung
COSM1099895	c.5474C>T	p.S1825F	Substitution - Missense	Endometrium
COSM2961644	c.5919T>C	p.H1973H	Substitution - coding silent	Upper_aerodigestive_tract
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Soft_tissue
COSM3900248	c.2345C>T	p.S782F	Substitution - Missense	Stomach
COSM1734526	c.5635C>A	p.P1879T	Substitution - Missense	Pancreas
COSM1314059	c.2186C>G	p.S729C	Substitution - Missense	Urinary_tract
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM1496902	c.5333C>A	p.T1778N	Substitution - Missense	Kidney
COSM1099949	c.1615C>T	p.L539F	Substitution - Missense	Endometrium
COSM213307	c.2525G>C	p.S842T	Substitution - Missense	Breast
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Thyroid
COSM1099905	c.5103G>A	p.P1701P	Substitution - coding silent	Endometrium
COSM5813825	c.318A>T	p.A106A	Substitution - coding silent	Liver
COSM1187531	c.3121A>T	p.T1041S	Substitution - Missense	Lung
COSM3925326	c.2056C>G	p.L686V	Substitution - Missense	Skin
COSM1496901	c.2219G>T	p.R740L	Substitution - Missense	Kidney
COSM3925327	c.734C>T	p.S245F	Substitution - Missense	Skin
COSM313087	c.2836C>G	p.P946A	Substitution - Missense	Soft_tissue
COSM85115	c.76C>T	p.R26C	Substitution - Missense	Pancreas
COSM454578	c.2811G>C	p.K937N	Substitution - Missense	Breast
COSM454577	c.3506G>A	p.R1169Q	Substitution - Missense	Breast
COSM5803341	c.5115T>C	p.C1705C	Substitution - coding silent	Liver
COSM1743593	c.2358C>T	p.V786V	Substitution - coding silent	Biliary_tract
COSM4802957	c.3127G>T	p.E1043*	Substitution - Nonsense	Liver
COSM4495064	c.4454C>T	p.S1485F	Substitution - Missense	Skin
COSM124650	c.3455G>T	p.W1152L	Substitution - Missense	Upper_aerodigestive_tract
COSM750343	c.2996C>G	p.S999*	Substitution - Nonsense	Stomach
COSM3396732	c.768G>T	p.R256R	Substitution - coding silent	Liver
COSM3396732	c.768G>T	p.R256R	Substitution - coding silent	Prostate
COSM1099926	c.4189G>A	p.E1397K	Substitution - Missense	Endometrium
COSM3649310	c.93G>A	p.R31R	Substitution - coding silent	Skin
COSM4694053	c.5145T>C	p.P1715P	Substitution - coding silent	Large_intestine
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM605677	c.1305G>A	p.E435E	Substitution - coding silent	Large_intestine
COSM3763348	c.2982G>A	p.P994P	Substitution - coding silent	Large_intestine
COSM5563822	c.1665G>A	p.Q555Q	Substitution - coding silent	Prostate
COSM5946584	c.1858C>T	p.Q620*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5606649	c.1689C>T	p.F563F	Substitution - coding silent	Skin
COSM3649304	c.1456C>T	p.R486C	Substitution - Missense	Stomach
COSM3649293	c.4482C>T	p.V1494V	Substitution - coding silent	Skin
COSM232843	c.814G>A	p.G272S	Substitution - Missense	Skin
COSM5951771	c.5850T>G	p.P1950P	Substitution - coding silent	Oesophagus
COSM3900252	c.986G>A	p.R329Q	Substitution - Missense	Stomach
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM750339	c.1603C>T	p.P535S	Substitution - Missense	Lung
COSM1137873	c.3938A>G	p.D1313G	Substitution - Missense	Kidney
COSM1099897	c.5433G>A	p.T1811T	Substitution - coding silent	Endometrium
COSM5563822	c.1665G>A	p.Q555Q	Substitution - coding silent	Prostate
COSM224344	c.2356G>A	p.V786I	Substitution - Missense	Skin
COSM4438872	c.5392C>T	p.H1798Y	Substitution - Missense	Oesophagus
COSM5563822	c.1665G>A	p.Q555Q	Substitution - coding silent	Prostate
COSM1099891	c.5747T>C	p.M1916T	Substitution - Missense	Endometrium
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM2961703	c.3162C>T	p.S1054S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4566800	c.4763_4764CC>TT	p.S1588F	Substitution - Missense	Skin
COSM255769	c.2965_2967delGAG	p.E993delE	Deletion - In frame	Central_nervous_system
COSM2961750	c.699T>C	p.C233C	Substitution - coding silent	Large_intestine
COSM1099921	c.4442G>A	p.S1481N	Substitution - Missense	Endometrium
COSM3396732	c.768G>T	p.R256R	Substitution - coding silent	Liver
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM227783	c.1511C>T	p.P504L	Substitution - Missense	Skin
COSM5021116	c.600+5G>T	p.?	Unknown	Soft_tissue
COSM141234	c.80C>T	p.P27L	Substitution - Missense	Upper_aerodigestive_tract
COSM4876558	c.1013C>T	p.P338L	Substitution - Missense	Prostate
COSM173599	c.4222G>A	p.E1408K	Substitution - Missense	Endometrium
COSM1099939	c.2770G>A	p.E924K	Substitution - Missense	Endometrium
COSM188274	c.4427C>T	p.A1476V	Substitution - Missense	Pancreas
COSM5452242	c.3577G>A	p.V1193I	Substitution - Missense	Large_intestine
COSM4881353	c.2999G>T	p.S1000I	Substitution - Missense	Upper_aerodigestive_tract
COSM5789359	c.2278C>T	p.L760F	Substitution - Missense	Breast
COSM1755725	c.5121G>A	p.M1707I	Substitution - Missense	Urinary_tract
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM300091	c.2452T>C	p.S818P	Substitution - Missense	Large_intestine
COSM4753615	c.1138G>T	p.E380*	Substitution - Nonsense	Stomach
COSM5563368	c.5655G>C	p.Q1885H	Substitution - Missense	Prostate
COSM4495064	c.4454C>T	p.S1485F	Substitution - Missense	Skin
COSM5632459	c.2528C>T	p.S843F	Substitution - Missense	Oesophagus
COSM1099963	c.824C>T	p.A275V	Substitution - Missense	Endometrium
COSM3432438	c.932G>A	p.R311Q	Substitution - Missense	Large_intestine
COSM1644803	c.5735A>G	p.N1912S	Substitution - Missense	Salivary_gland
COSM5606649	c.1689C>T	p.F563F	Substitution - coding silent	Skin
COSM4879901	c.1480C>T	p.Q494*	Substitution - Nonsense	Prostate
COSM1197530	c.5668G>A	p.A1890T	Substitution - Missense	Large_intestine
COSM5009138	c.2701G>T	p.E901*	Substitution - Nonsense	Large_intestine
COSM5885539	c.4348C>G	p.L1450V	Substitution - Missense	Urinary_tract
COSM4895419	c.618C>T	p.I206I	Substitution - coding silent	Skin
COSM3900258	c.13G>A	p.A5T	Substitution - Missense	Stomach
COSM2961646	c.5877G>A	p.G1959G	Substitution - coding silent	Upper_aerodigestive_tract
COSM1643601	c.5378A>G	p.Q1793R	Substitution - Missense	Stomach
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Skin
COSM1099919	c.4473C>T	p.S1491S	Substitution - coding silent	Endometrium
COSM3663764	c.4997C>T	p.P1666L	Substitution - Missense	Liver
COSM4643256	c.5407A>T	p.T1803S	Substitution - Missense	Large_intestine
COSM313086	c.473G>A	p.G158D	Substitution - Missense	Lung
COSM5348609	c.5810_5811insT	p.S1938fs*1	Insertion - Frameshift	Liver
COSM1624025	c.2601C>T	p.R867R	Substitution - coding silent	Liver
COSM3900247	c.2401G>C	p.E801Q	Substitution - Missense	Stomach
COSM1314058	c.3379C>G	p.L1127V	Substitution - Missense	Urinary_tract
COSM5820523	c.2711A>T	p.E904V	Substitution - Missense	Liver
COSM1187532	c.1708A>G	p.I570V	Substitution - Missense	Lung
COSM5009608	c.4226T>G	p.L1409*	Substitution - Nonsense	Large_intestine
COSM5991842	c.4055delT	p.L1352fs*1	Deletion - Frameshift	Prostate
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Soft_tissue
COSM3900240	c.4323C>T	p.G1441G	Substitution - coding silent	Stomach
COSM3900234	c.5610C>G	p.H1870Q	Substitution - Missense	Stomach
COSM3834735	c.5085T>C	p.P1695P	Substitution - coding silent	Breast
COSM4993085	c.5737T>G	p.S1913A	Substitution - Missense	Skin
COSM1216525	c.3260G>A	p.R1087H	Substitution - Missense	Large_intestine
COSM1099917	c.4651A>G	p.S1551G	Substitution - Missense	Endometrium
COSM1457142	c.1041G>A	p.T347T	Substitution - coding silent	Large_intestine
COSM4517377	c.3305_3306GG>AA	p.R1102K	Substitution - Missense	Skin
COSM276245	c.1990G>A	p.D664N	Substitution - Missense	Large_intestine
COSM276245	c.1990G>A	p.D664N	Substitution - Missense	Large_intestine
COSM3432439	c.896G>A	p.R299H	Substitution - Missense	Large_intestine
COSM4489889	c.3548C>T	p.S1183F	Substitution - Missense	Skin
COSM2961758	c.472G>A	p.G158S	Substitution - Missense	Large_intestine
COSM3925327	c.734C>T	p.S245F	Substitution - Missense	Skin
COSM4694058	c.2977_2979delGAG	p.E993delE	Deletion - In frame	Large_intestine
COSM5932246	c.4483C>T	p.R1495C	Substitution - Missense	Skin
COSM1187529	c.4576A>C	p.N1526H	Substitution - Missense	Lung
COSM1624022	c.4772G>T	p.G1591V	Substitution - Missense	Liver
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Urinary_tract
COSM71772	c.1753G>A	p.V585M	Substitution - Missense	Ovary
COSM141233	c.4499C>T	p.P1500L	Substitution - Missense	Upper_aerodigestive_tract
COSM4694060	c.1813A>C	p.T605P	Substitution - Missense	Large_intestine
COSM3834739	c.334G>C	p.E112Q	Substitution - Missense	Breast
COSM188275	c.3201C>T	p.I1067I	Substitution - coding silent	Stomach
COSM313085	c.2439G>T	p.V813V	Substitution - coding silent	Lung
COSM3432438	c.932G>A	p.R311Q	Substitution - Missense	Large_intestine
COSM88606	c.2392G>C	p.E798Q	Substitution - Missense	Ovary
COSM3649290	c.5427C>T	p.T1809T	Substitution - coding silent	Skin
COSM3649301	c.2724C>T	p.A908A	Substitution - coding silent	Skin
COSM4993090	c.189C>T	p.V63V	Substitution - coding silent	Skin
COSM4753614	c.1139A>C	p.E380A	Substitution - Missense	Large_intestine
COSM188275	c.3201C>T	p.I1067I	Substitution - coding silent	Large_intestine
COSM4753615	c.1138G>T	p.E380*	Substitution - Nonsense	Large_intestine
COSM1258620	c.2242C>T	p.R748C	Substitution - Missense	Oesophagus
COSM5621072	c.2021G>T	p.G674V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2961755	c.575C>T	p.S192F	Substitution - Missense	Large_intestine
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Skin
COSM3779230	c.5221G>T	p.A1741S	Substitution - Missense	Urinary_tract
COSM3663765	c.3798G>A	p.K1266K	Substitution - coding silent	Liver
COSM1179138	c.2237T>G	p.I746S	Substitution - Missense	Prostate
COSM2961642	c.5964C>T	p.N1988N	Substitution - coding silent	Upper_aerodigestive_tract
COSM5517835	c.1563C>G	p.T521T	Substitution - coding silent	Biliary_tract
COSM1489304	c.3908A>G	p.D1303G	Substitution - Missense	Breast
COSM3951681	c.4790G>A	p.S1597N	Substitution - Missense	Lung
COSM750345	c.4532A>T	p.Q1511L	Substitution - Missense	Lung
COSM486472	c.1988T>C	p.I663T	Substitution - Missense	Kidney
COSM5800895	c.4639G>T	p.D1547Y	Substitution - Missense	Breast
COSM3834736	c.3758C>T	p.S1253F	Substitution - Missense	Breast
COSM1624023	c.4504G>A	p.V1502M	Substitution - Missense	Liver
COSM5615992	c.5659G>T	p.G1887C	Substitution - Missense	Lung
COSM750344	c.3576C>T	p.I1192I	Substitution - coding silent	Lung
COSM5575643	c.830A>G	p.N277S	Substitution - Missense	Stomach
COSM1099961	c.876T>C	p.C292C	Substitution - coding silent	Endometrium
COSM5606649	c.1689C>T	p.F563F	Substitution - coding silent	Skin
COSM3649292	c.5377C>T	p.Q1793*	Substitution - Nonsense	Skin
COSM5009137	c.3116C>A	p.S1039Y	Substitution - Missense	Large_intestine
COSM486471	c.3449A>C	p.K1150T	Substitution - Missense	Kidney
COSM255263	c.2981C>T	p.P994L	Substitution - Missense	Large_intestine
COSM3649297	c.3586C>T	p.P1196S	Substitution - Missense	Skin
COSM4694052	c.5327C>T	p.A1776V	Substitution - Missense	Large_intestine
COSM1662351	c.2626C>A	p.Q876K	Substitution - Missense	Kidney
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Soft_tissue
COSM162772	c.2302G>C	p.D768H	Substitution - Missense	Breast
COSM1489303	c.5133C>T	p.F1711F	Substitution - coding silent	Breast
COSM3900241	c.3661G>A	p.E1221K	Substitution - Missense	Stomach
COSM3763347	c.4455C>T	p.S1485S	Substitution - coding silent	Large_intestine
COSM5903681	c.4118C>T	p.S1373F	Substitution - Missense	Skin
COSM5713901	c.5404G>A	p.G1802R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2961689	c.4183G>A	p.D1395N	Substitution - Missense	Large_intestine
COSM486473	c.985C>T	p.R329W	Substitution - Missense	Kidney
COSM4894215	c.4397C>T	p.P1466L	Substitution - Missense	Skin
COSM1099903	c.5226C>T	p.G1742G	Substitution - coding silent	Endometrium
COSM1292702	c.2432T>A	p.I811N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4694056	c.3431C>T	p.T1144I	Substitution - Missense	Large_intestine
COSM5929051	c.5978C>T	p.P1993L	Substitution - Missense	Skin
COSM1099901	c.5351T>C	p.V1784A	Substitution - Missense	Endometrium
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM5908852	c.2437-3C>T	p.?	Unknown	Skin
COSM40361	c.1575C>T	p.S525S	Substitution - coding silent	Skin
COSM4479138	c.229C>T	p.P77S	Substitution - Missense	Skin
COSM1258621	c.871G>A	p.E291K	Substitution - Missense	Stomach
COSM1099909	c.5049G>A	p.P1683P	Substitution - coding silent	Endometrium
COSM1624026	c.2600G>T	p.R867L	Substitution - Missense	Liver
COSM1472109	c.614C>T	p.P205L	Substitution - Missense	Prostate
COSM346190	c.2447C>G	p.S816C	Substitution - Missense	Lung
COSM750340	c.1953T>G	p.P651P	Substitution - coding silent	Lung
COSM1722309	c.5079A>C	p.P1693P	Substitution - coding silent	Central_nervous_system
COSM2961647	c.5868A>G	p.G1956G	Substitution - coding silent	Upper_aerodigestive_tract
COSM339908	c.5954G>A	p.S1985N	Substitution - Missense	Lung
COSM4408613	c.2830G>C	p.V944L	Substitution - Missense	Oesophagus
COSM4694057	c.3373G>T	p.V1125L	Substitution - Missense	Large_intestine
COSM4919921	c.4316A>G	p.H1439R	Substitution - Missense	Liver
COSM5009139	c.2590C>T	p.R864W	Substitution - Missense	Large_intestine
COSM2961645	c.5910T>A	p.P1970P	Substitution - coding silent	Upper_aerodigestive_tract
COSM2961664	c.5336C>T	p.S1779F	Substitution - Missense	Skin
COSM188304	c.131G>A	p.R44H	Substitution - Missense	Breast
COSM3736469	c.401T>C	p.L134S	Substitution - Missense	Large_intestine
COSM3900257	c.331G>T	p.A111S	Substitution - Missense	Stomach
COSM2961755	c.575C>T	p.S192F	Substitution - Missense	Large_intestine
COSM5429111	c.953A>C	p.K318T	Substitution - Missense	Oesophagus
COSM1457130	c.5245G>A	p.A1749T	Substitution - Missense	Large_intestine
COSM5817026	c.4983G>T	p.P1661P	Substitution - coding silent	Liver
COSM5514449	c.1902+9G>T	p.?	Unknown	Biliary_tract
COSM3649293	c.4482C>T	p.V1494V	Substitution - coding silent	Skin
COSM3649298	c.3581C>T	p.S1194F	Substitution - Missense	Skin
COSM5606649	c.1689C>T	p.F563F	Substitution - coding silent	Skin

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
25548695	mutation	Breast Carcinoma	AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).
24798186	mutation	Acute Myeloid Leukemia	FISH analysis indicated the presence of a KAT6A/CREBBP chimera.
18754862	mutation	Acute Myeloid Leukemia	The protein MOZ (monocytic leukemia zinc finger protein) is a Myst (MOZ, Ybf2 (Sas3), Sas2, Tip60)-type histone acetyltranseferase (HAT) that generates fusion genes, such as MOZ-TIF2, MOZ-CBP and MOZ-p300, in acute myeloid leukemia (AML) by chromosomal translocation.
18528428	mutation	Acute Myeloid Leukemia	Twenty-eight cases carried t(8;16)(p11;p13) with MYST3-CREBBP fusion, one case carried a variant t(8;22)(p11;q13) and one case carried a t(8;19)(p11;q13). MYST3 rearrangement was associated with a poor prognosis, as 50% of patients deceased during the first 10 months.
17805042	mutation	Acute Myeloid Leukemia	Reverse-transcription polymerase chain reaction showed the presence of 2 MOZ-TIF2 fusion transcripts.
17296583	mutation	Acute Myeloid Leukemia	Two types of MYST3-CBP and CBP-MYST3 fusion transcripts have been identified in patients.
11243405	mutation	Acute Myeloid Leukemia	We report the fusion of the MOZ gene to the p300 gene in acute myeloid leukemia with translocation t(8;22)(p11;q13). Analysis of fusion transcripts indicated that the zinc finger and acetyltransferase domains of MOZ are fused to a largely intact p300. These results suggest that MOZ-p300, which has two acetyltransferase domains, could be involved in leukemogenesis through aberrant regulation of histone acetylation.
10862050	mutation	Acute Myeloid Leukemia	In the type I transcript, nucleotide (nt) 3,745 of MOZ was fused in-frame with nt 284 of CBP, whereas in the type II transcript, nt 3,745 of MOZ was fused out-of-frame with nt 997 of CBP.
10469454	mutation	Acute Myeloid Leukemia	The breakpoints occur in the MOZ region encoding the acidic domain and in the 5' end of the CBP gene. These results provide further evidence for the multiple contribution of both MOZ and CBP genes in acute leukemias.

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q92794	350	K	N6-acetyllysine	-	No	None detected
Q92794	355	K	N6-acetyllysine	-	No	None detected
Q92794	369	T	Phosphothreonine	PKB/AKT1	No	None detected
Q92794	420	S	Phosphoserine	-	No	None detected
Q92794	473	S	Phosphoserine	-	No	None detected
Q92794	604	K	N6-acetyllysine	autocatalysis	No	None detected
Q92794	787	S	Phosphoserine	-	No	None detected
Q92794	812	S	Phosphoserine	-	No	None detected
Q92794	815	K	N6-acetyllysine	-	No	None detected
Q92794	899	Y	Phosphotyrosine	-	No	None detected
Q92794	941	S	Phosphoserine	-	No	None detected
Q92794	954	S	Phosphoserine	-	No	None detected
Q92794	974	S	Phosphoserine	-	No	None detected
Q92794	1007	K	N6-acetyllysine	-	No	None detected
Q92794	1089	S	Phosphoserine	-	No	None detected
Q92794	1090	S	Phosphoserine	-	No	None detected
Q92794	1113	S	Phosphoserine	-	No	None detected

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.001	5.633	-0.334	0.082	NS
BRCA	Breast invasive carcinoma	112	1100	6.845	6.578	-0.158	0.0795	NS
CESC	Cervical and endocervical cancers	3	306	6.201	5.774	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.041	5.808	-0.161	0.129	NS
ESCA	Esophageal carcinoma	11	185	6.745	6.84	0.112	0.68	NS
GBM	Glioblastoma multiforme	5	166	5.974	5.87	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.065	5.803	-0.267	0.0689	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.281	6.121	-0.256	8.87e-05	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	5.994	5.436	-0.5	6.28e-06	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.805	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.588	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.641	4.138	-0.538	3.42e-06	NS
LUAD	Lung adenocarcinoma	59	517	6.439	5.99	-0.415	1.08e-05	NS
LUSC	Lung squamous cell carcinoma	51	501	6.424	6.172	-0.244	0.0353	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.747	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	5.888	5.809	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	4.985	5.477	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.052	5.812	-0.301	0.00465	NS
READ	Rectum adenocarcinoma	10	167	6.005	5.904	-0.021	0.938	NS
SARC	Sarcoma	2	263	5.11	5.71	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.547	5.995	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.669	6.737	0.093	0.353	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.166	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.291	5.953	-0.241	0.000331	NS
THYM	Thymoma	2	120	6.7	6.007	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.221	5.726	-0.418	0.000332	NS

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	18
Adrenal gland	10.1
Appendix	23.1
Bone marrow	22.9
Breast	15.1
Cerebral cortex	17.3
Cervix, uterine	23
Colon	11.4
Duodenum	9.2
Endometrium	26.4
Epididymis	9.7
Esophagus	15.4
Fallopian tube	21.2
Gallbladder	18.7
Heart muscle	5.7
Kidney	10.6
Liver	5.2
Lung	18.4
Lymph node	19.3
Ovary	26.7
Pancreas	2.3
Parathyroid gland	33.9
Placenta	21.1
Prostate	17.4
Rectum	10.9
Salivary gland	4.2
Seminal vesicle	13.2
Skeletal muscle	4.2
Skin	18
Small intestine	13.6
Smooth muscle	20.9
Spleen	23
Stomach	10.2
Testis	23
Thyroid gland	24.6
Tonsil	16.8
Urinary bladder	15.5

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
22150308	Aberrant expression	Acute Myeloid Leukemia	Aberrant expression of these homeodomain transcription factors is found in AML with chromosomal translocations involving the MLL, MYST3 and CREBBP genes, and in a poor prognosis subset with normal cytogenetics.
20143402	Aberrant expression	Acute Myeloid Leukemia	MYST3 abnormalities were associated with acute myeloid leukemia (AML), M4 in three and M6 in one.

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.688	5.71e-58	30.2	35.9	33.9	Gain
BRCA	Breast invasive carcinoma	1075	0.713	2.19e-167	20.1	41	38.9	Gain
CESC	Cervical and endocervical cancers	292	0.46	9.86e-17	15.4	62.7	21.9	Neutral
COAD	Colon adenocarcinoma	449	0.607	1.81e-46	11.1	47.2	41.6	Gain
ESCA	Esophageal carcinoma	183	0.787	8.93e-40	21.9	33.9	44.3	Gain
GBM	Glioblastoma multiforme	147	0.421	1.12e-07	11.6	77.6	10.9	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.569	1.83e-45	33.3	37.9	28.8	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.348	2.32e-16	23.2	70.7	6.1	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.261	7e-06	4.5	88.9	6.6	Neutral
LAML	Acute Myeloid Leukemia	166	0.422	1.43e-08	0	89.2	10.8	Neutral
LGG	Brain Lower Grade Glioma	513	0.271	4.34e-10	2.1	89.3	8.6	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.595	2.65e-36	44.8	37.4	17.9	Loss
LUAD	Lung adenocarcinoma	512	0.61	1.49e-53	25.4	41.6	33	Neutral
LUSC	Lung squamous cell carcinoma	498	0.717	1.32e-79	24.7	30.1	45.2	Gain
OV	Ovarian serous cystadenocarcinoma	300	0.695	1.22e-44	24	41.3	34.7	Gain
PAAD	Pancreatic adenocarcinoma	177	0.391	7.6e-08	17.5	62.7	19.8	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.399	1.44e-07	12.3	81.5	6.2	Neutral
PRAD	Prostate adenocarcinoma	491	0.484	3.79e-30	33.4	54.4	12.2	Loss
READ	Rectum adenocarcinoma	164	0.516	1.58e-12	14.6	40.2	45.1	Gain
SARC	Sarcoma	255	0.453	2.53e-14	15.3	54.1	30.6	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.465	3.97e-21	16.3	50.7	33	Neutral
STAD	Stomach adenocarcinoma	413	0.673	1.03e-55	21.8	36.3	41.9	Gain
TGCT	Testicular Germ Cell Tumors	150	0.555	1.79e-13	7.3	19.3	73.3	Gain
THCA	Thyroid carcinoma	497	0.066	0.14	0.8	98	1.2	Neutral
THYM	Thymoma	119	0.113	0.221	0.8	89.9	9.2	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.633	1.82e-61	5.8	64.1	30.2	Neutral

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.378	6.08e-16	17	408	-0.002	0.825	NS/NA
BRCA	Breast invasive carcinoma	-0.45	0	83	785	0.001	0.00146	NS/NA
CESC	Cervical and endocervical cancers	-0.334	2.29e-09	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.442	0	19	297	0.01	0.413	NS/NA
ESCA	Esophageal carcinoma	-0.435	3.32e-10	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.366	0.00284	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.451	0	20	522	0.002	3.29e-07	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.269	4.69e-07	24	319	0.007	0.0537	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.326	1.07e-08	23	275	0.002	0.202	NS/NA
LAML	Acute Myeloid Leukemia	-0.131	0.0897	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.171	7.66e-05	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.483	0	41	373	0.012	1.06e-20	NS/NA
LUAD	Lung adenocarcinoma	-0.187	4.11e-05	21	456	-0.014	0.984	NS/NA
LUSC	Lung squamous cell carcinoma	-0.502	0	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.667	0.0589	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.243	0.000962	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.199	0.00643	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.401	0	35	498	0.002	0.000408	NS/NA
READ	Rectum adenocarcinoma	-0.301	0.00231	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.373	5.54e-10	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.32	1.46e-12	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.395	1.38e-15	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.319	5.27e-05	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.102	0.016	50	509	-0.001	0.124	NS/NA
THYM	Thymoma	-0.117	0.199	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.322	1.52e-12	34	431	-0.01	0.569	NS/NA

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	2	Medium
Appendix	1	Low
Bone marrow	2	Medium
Breast	2	Medium
Bronchus	2	Medium
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	2	Medium
Colon	2	Medium
Duodenum	2	Medium
Endometrium	2	Medium
Epididymis	2	Medium
Esophagus	2	Medium
Fallopian tube	2	Medium
Gallbladder	2	Medium
Heart muscle	2	Medium
Hippocampus	2	Medium
Kidney	2	Medium
Liver	1	Low
Lung	2	Medium
Lymph node	1	Low
Nasopharynx	2	Medium
Oral mucosa	2	Medium
Ovary	2	Medium
Pancreas	2	Medium
Parathyroid gland	2	Medium
Placenta	2	Medium
Prostate	2	Medium
Rectum	2	Medium
Salivary gland	2	Medium
Seminal vesicle	2	Medium
Skeletal muscle	2	Medium
Skin	2	Medium
Small intestine	2	Medium
Smooth muscle	2	Medium
Soft tissue	1	Low
Spleen	1	Low
Stomach	2	Medium
Testis	2	Medium
Thyroid gland	2	Medium
Tonsil	2	Medium
Urinary bladder	2	Medium
Vagina	2	Medium

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.326	NS	24476821
BRCA	Breast invasive carcinoma	521	2.7e-05	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0479	Significant	22810696
GBM	Glioblastoma multiforme	157	0.0107	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	6.17e-10	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.204	NS	26536169
LGG	Brain Lower Grade Glioma	513	2.97e-09	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0186	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.602	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.016	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.12	NS	26544944
READ	Rectum adenocarcinoma	67	0.00619	Significant	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0886	NS	26091043
STAD	Stomach adenocarcinoma	277	0.0612	NS	25079317
THCA	Thyroid carcinoma	391	0.115	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.0798	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.787	0.258	NS
BRCA	Breast invasive carcinoma	1079	1.284	0.28	NS
CESC	Cervical and endocervical cancers	291	0.828	0.602	NS
COAD	Colon adenocarcinoma	439	0.896	0.699	NS
ESCA	Esophageal carcinoma	184	0.728	0.338	NS
GBM	Glioblastoma multiforme	158	0.955	0.858	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.606	0.011	Longer
KIRC	Kidney renal clear cell carcinoma	531	0.407	4.67e-05	Longer
KIRP	Kidney renal papillary cell carcinoma	287	1.541	0.308	NS
LAML	Acute Myeloid Leukemia	149	1.035	0.903	NS
LGG	Brain Lower Grade Glioma	511	0.592	0.0286	Longer
LIHC	Liver hepatocellular carcinoma	365	0.634	0.0659	NS
LUAD	Lung adenocarcinoma	502	0.973	0.897	NS
LUSC	Lung squamous cell carcinoma	494	0.842	0.371	NS
OV	Ovarian serous cystadenocarcinoma	303	1.427	0.095	NS
PAAD	Pancreatic adenocarcinoma	177	1.317	0.334	NS
PCPG	Pheochromocytoma and Paraganglioma	179	0.508	0.574	NS
PRAD	Prostate adenocarcinoma	497	0	0.067	NS
READ	Rectum adenocarcinoma	159	1.992	0.309	NS
SARC	Sarcoma	259	1.473	0.208	NS
SKCM	Skin Cutaneous Melanoma	459	1.261	0.216	NS
STAD	Stomach adenocarcinoma	388	0.693	0.106	NS
TGCT	Testicular Germ Cell Tumors	134	1.139	0.927	NS
THCA	Thyroid carcinoma	500	0.834	0.824	NS
THYM	Thymoma	119	0.308	0.169	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.475	0.18	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.033	0.504	NS
BRCA	Breast invasive carcinoma	1071	0.034	0.26	NS
CESC	Cervical and endocervical cancers	167	-0.03	0.697	NS
COAD	Colon adenocarcinoma	445	-0.031	0.519	NS
ESCA	Esophageal carcinoma	162	-0.103	0.193	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.08	0.0921	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.177	3.97e-05	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.085	0.171	NS
LIHC	Liver hepatocellular carcinoma	347	0.09	0.0957	NS
LUAD	Lung adenocarcinoma	507	-0.022	0.622	NS
LUSC	Lung squamous cell carcinoma	497	-0.007	0.874	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.073	0.204	NS
PAAD	Pancreatic adenocarcinoma	176	0.053	0.484	NS
READ	Rectum adenocarcinoma	156	0.135	0.0928	NS
SKCM	Skin Cutaneous Melanoma	410	-0.026	0.6	NS
STAD	Stomach adenocarcinoma	392	-0.048	0.34	NS
TGCT	Testicular Germ Cell Tumors	81	-0.186	0.0958	NS
THCA	Thyroid carcinoma	499	-0.048	0.283	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.053	0.233	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.086	0.158	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.1	0.0256	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.18	3.19e-05	Lower
LGG	Brain Lower Grade Glioma	514	-0.04	0.371	NS
LIHC	Liver hepatocellular carcinoma	366	0.093	0.0745	NS
OV	Ovarian serous cystadenocarcinoma	296	0.116	0.0454	Higher
PAAD	Pancreatic adenocarcinoma	176	0.035	0.649	NS
STAD	Stomach adenocarcinoma	406	0.052	0.295	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.146	0.000723	Higher

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for KAT6A.

Summary
Symbol	KAT6A
Name	lysine acetyltransferase 6A
Aliases	MOZ; ZC2HC6A; Monocytic leukemia zinc finger protein; ZNF220; RUNXBP2; MYST3; runt-related transcription fac ......
Location	8p11.21
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
25548695	Breast Carcinoma	partner	CREBBP	Fusion	AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).
24798186	Acute Myeloid Leukemia	partner	CREBBP	Fusion	FISH analysis indicated the presence of a KAT6A/CREBBP chimera.
18754862	Acute Myeloid Leukemia	partner	TIF2; CBP; p300	Fusion	The protein MOZ (monocytic leukemia zinc finger protein) is a Myst (MOZ, Ybf2 (Sas3), Sas2, Tip60)-type histone acetyltranseferase (HAT) that generates fusion genes, such as MOZ-TIF2, MOZ-CBP and MOZ-p300, in acute myeloid leukemia (AML) by chromosomal translocation.
18528428	Acute Myeloid Leukemia	partner	CREBBP	Fusion	Type I (MYST3 exon 16-CREBBP exon 3) was the most frequent MYST3-CREBBP fusion transcript (65%).
17805042	Acute Myeloid Leukemia	partner	TIF2	Fusion	Reverse-transcription polymerase chain reaction showed the presence of 2 MOZ-TIF2 fusion transcripts.
17296583	Acute Myeloid Leukemia	partner	CBP	Fusion	Two types of MYST3-CBP and CBP-MYST3 fusion transcripts have been identified in patients.
11243405	Acute Myeloid Leukemia	partner	p300	Fusion	Analysis of fusion transcripts indicated that the zinc finger and acetyltransferase domains of MOZ are fused to a largely intact p300.
10862050	Acute Myeloid Leukemia	partner	CBP	Fusion	In the type I transcript, nucleotide (nt) 3,745 of MOZ was fused in-frame with nt 284 of CBP, whereas in the type II transcript, nt 3,745 of MOZ was fused out-of-frame with nt 997 of CBP.
10469454	Acute Myeloid Leukemia	partner	CBP	Fusion	These results provide further evidence for the multiple contribution of both MOZ and CBP genes in acute leukemias.