ConVarT

KAT6A (GeneID: 7994) | Homo sapiens

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:	gnomAD(7)

gnomAD Variants By Annotation

Missense Variant

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000265713 ENST00000396930 ENST00000406337 ENST00000418721 ENST00000426524 ENST00000485568 NP_001292807 NP_006757

ClinVar Data

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

gnomAD

Missense Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
8-41906461-C-A	ENST00000426524	p.Trp12Leu	Missense Variant	0	0	0	rs752426070
8-41906472-A-C	ENST00000426524	p.Leu8Leu	Synonymous Variant	0	0	0	rs760429203
8-41906474-G-A	ENST00000426524	p.Leu8Phe	Missense Variant	0	0	0	rs763626650
8-41906475-C-T	ENST00000426524	p.Pro7Pro	Synonymous Variant	0	0	0	rs772037520
8-41906476-G-C	ENST00000426524	p.Pro7Arg	Missense Variant	2	31374	0.000064	rs1425919147
8-41906484-G-A	ENST00000426524	p.Leu4Leu	Synonymous Variant	1	31366	0.000032	rs372729625
8-41906492-C-G	ENST00000426524	p.Val2Leu	Missense Variant	1	31392	0.000032	rs778510932

Showing 1 to 7 of 7 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)

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

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	Mus musculus
PF00628	PHD	PHD-finger	208-265	CL0390	zf-FYVE-PHD	Mus musculus
PF01853	MOZ_SAS	MOZ/SAS family	564-742	CL0257	Acetyltrans	Mus musculus
PF17772	zf-MYST	MYST family zinc finger domain	505-559	CL0361	C2H2-zf	Mus musculus

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

Classification of Clinicial Significance of ClinVar Data