ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
8-41800299-T-G	ENST00000485568	p.Ter816CysextTer23	Stop Lost	0	0	0	rs757994102
8-41800304-C-T	ENST00000485568	p.Ala815Thr	Missense Variant	0	0	0	rs779702506
8-41800316-T-A	ENST00000485568	p.Ile811Phe	Missense Variant	0	0	0	rs1186141863
8-41800324-T-G	ENST00000485568	p.Glu808Ala	Missense Variant	0	0	0	rs1374229202
8-41800327-C-T	ENST00000485568	p.Arg807Lys	Missense Variant	0	0	0	rs1475711876
8-41800329-T-C	ENST00000485568	p.Glu806Glu	Synonymous Variant	0	0	0	rs746544472
8-41800330-T-C	ENST00000485568	p.Glu806Gly	Missense Variant	0	0	0	rs1399843129
8-41800334-G-C	ENST00000485568	p.Gln805Glu	Missense Variant	0	0	0	rs768245482
8-41800338-C-A	ENST00000485568	p.Gln803His	Missense Variant	0	0	0	rs1339009390
8-41800341-T-C	ENST00000485568	p.Pro802Pro	Synonymous Variant	0	0	0	rs1407129736
8-41800342-G-A	ENST00000485568	p.Pro802Leu	Missense Variant	0	0	0	rs780818859
8-41800346-C-G	ENST00000485568	p.Glu801Gln	Missense Variant	0	0	0	rs748715003
8-41800349-C-T	ENST00000485568	p.Glu800Lys	Missense Variant	1	31404	0.000032	rs770323706
8-41800350-G-A	ENST00000485568	p.Asn799Asn	Synonymous Variant	1	31388	0.000032	rs773517227
8-41800350-G-C	ENST00000485568	p.Asn799Lys	Missense Variant	0	0	0	rs773517227
8-41800351-T-C	ENST00000485568	p.Asn799Ser	Missense Variant	0	0	0	rs1228857526
8-41800361-C-G	ENST00000485568	p.Glu796Gln	Missense Variant	0	0	0	rs771079510
8-41800362-C-T	ENST00000485568	p.Glu795Glu	Synonymous Variant	0	0	0	rs774516596
8-41800366-G-T	ENST00000485568	p.Ala794Asp	Missense Variant	1	31382	0.000032	rs1395935684
8-41800366-GCCT-G	ENST00000485568	p.Glu793del	Inframe Deletion	0	0	0	rs1395935684

Showing 1 to 20 of 472 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
KAT6A_ENST00000485568	ENST00000485568	BD107T	biliary_tract	carcinoma	66731043	c.1902+9G>T	p.?	Unknown	NEUTRAL	.09373	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	RK234_C01	liver	carcinoma	66726107	c.1483-861A>G	p.?	Unknown	NEUTRAL	.02314	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	66726692	c.601-3554T>A	p.?	Unknown	NEUTRAL	.02206	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	2014_Lung_sq_100_T	lung	carcinoma	66728998	c.1483-1811T>G	p.?	Unknown	NEUTRAL	.13529	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	66726687	c.601-3531T>G	p.?	Unknown	NEUTRAL	.04294	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	18	salivary_gland	carcinoma	66730309	c.1920G>T	p.Q640H	Substitution - Missense	PATHOGENIC	.98525	Confirmed somatic variant	PMID: 27340278	NS	640
KAT6A_ENST00000485568	ENST00000485568	S01020_1	lung	carcinoma	66729401	c.783G>T	p.E261D	Substitution - Missense	PATHOGENIC	.93812	Confirmed somatic variant	PMID: 26168399	primary	261
KAT6A_ENST00000485568	ENST00000485568	3N48-VS-3T48	oesophagus	carcinoma	66725329	c.525C>T	p.N175=	Substitution - coding silent	NEUTRAL	.08258	Confirmed somatic variant	PMID: 25839328	NS	175
KAT6A_ENST00000485568	ENST00000485568	TCGA-DA-A1I5-06	skin	malignant_melanoma	66726798	c.1101A>T	p.K367N	Substitution - Missense	PATHOGENIC	.92258	Confirmed somatic variant	PMID: N/A	NS	367
KAT6A_ENST00000485568	ENST00000485568	PD_03	skin	carcinoma	66731028	c.476G>A	p.R159K	Substitution - Missense	PATHOGENIC	.988	Confirmed somatic variant	PMID: 24662767	NS	159
KAT6A_ENST00000485568	ENST00000485568	8066067	pancreas	carcinoma	66726279	c.600+6970C>T	p.?	Unknown	NEUTRAL	.032	Confirmed somatic variant	PMID: N/A	NS	0
KAT6A_ENST00000485568	ENST00000485568	LP6008141-DNA_H01	oesophagus	carcinoma	66730321	c.-325-349G>A	p.?	Unknown	NEUTRAL	.46671	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	tumor_4124432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	66730865	c.601-24505T>A	p.?	Unknown	NEUTRAL	.01866	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	8031544	pancreas	carcinoma	66730244	c.601-22016A>G	p.?	Unknown	NEUTRAL	.01279	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	CN-AML-CR-40-Dx	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	66726134	c.1902+96T>G	p.?	Unknown	NEUTRAL	.15142	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	GBM20-R3	central_nervous_system	glioma	66727135	c.233G>A	p.G78E	Substitution - Missense	PATHOGENIC	.98849	Confirmed somatic variant	PMID: 28263318	recurrent	78
KAT6A_ENST00000485568	ENST00000485568	YYY-549T	stomach	carcinoma	66731010	c.601-9660A>G	p.?	Unknown	NEUTRAL	.06767	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	4132_T	lung	carcinoma	66724821	c.1996+62G>A	p.?	Unknown	NEUTRAL	.02291	Confirmed somatic variant	PMID: N/A	NS	0
KAT6A_ENST00000485568	ENST00000485568	ML_75_T_01	skin	carcinoma	66725256	c.600+17339C>T	p.?	Unknown	NEUTRAL	.00036	Confirmed somatic variant	PMID: N/A	primary	0
KAT6A_ENST00000485568	ENST00000485568	2834130	skin	malignant_melanoma	66724794	c.929G>T	p.C310F	Substitution - Missense	PATHOGENIC	.98734	Variant of unknown origin	PMID: 28296713	primary	310

Showing 1 to 20 of 400 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00628	PHD	PHD-finger	264-313	CL0390	zf-FYVE-PHD	Homo sapiens
PF00628	PHD	PHD-finger	208-265	CL0390	zf-FYVE-PHD	Homo sapiens
PF01853	MOZ_SAS	MOZ/SAS family	565-743	CL0257	Acetyltrans	Homo sapiens
PF17772	zf-MYST	MYST family zinc finger domain	506-560	CL0361	C2H2-zf	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Craniosynostosis	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.602	0.517
Adenoid Cystic Carcinoma	Neoplasms ;	0.602	0.517
Medulloblastoma	Neoplasms ;	0.602	0.517
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.602	0.517
Medullomyoblastoma	Neoplasms ;	0.602	0.517
Childhood Medulloblastoma	Neoplasms ;	0.602	0.517
Adult Medulloblastoma	Neoplasms ;	0.602	0.517
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.602	0.517
Desmoplastic Medulloblastoma	Neoplasms ;	0.602	0.517
Melanotic medulloblastoma	Neoplasms ;	0.602	0.517
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.602	0.517
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32	N/A	0.602	0.517
Acute myeloid leukemia with t(8;16)(p11;p13) translocation	N/A	0.602	0.517
NO RESULT FOUND

Description:	lysine acetyltransferase 6A [Source:HGNC Symbol;Acc:HGNC:13013]
Synonyms:	ZNF220, MYST-3, C2HC6A, RUNXBP2, MRD32, MYST3, MOZ
Other ID(s):	HGNC:13013, ENSG00000083168
Protein Accession Numbers:	ENST00000485568, ENST00000406337, NP_006757, ENST00000426524, ENST00000396930, NP_001292807, ENST00000418721, ENST00000265713
Statistics:	ClinVar(45) gnomAD(472) COSMIC(400)

Classification of Clinicial Significance of ClinVar Data