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: ClinVar(185) gnomAD(4590) COSMIC(2185) PTM(67)
ClinVar Pathogenicity of Variations help

∙ 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 You are here now! ENST00000396930 You are here now! ENST00000406337 You are here now! ENST00000418721 ENST00000426524 ENST00000485568 NP_001292807 NP_006757 You are here now!


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
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

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
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