KAT6A
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KAT6A (HGNC:13013) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lysine acetyltransferase 6A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ZNF220, RUNXBP2, MYST3
Alias symbols
MOZ, ZC2HC6A
%HI
19(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.08(Read more about gnomAD LOEUF score)
Cytoband
8p11.21
Genomic Coordinates
GRCh37/hg19: chr8:41786997-41909505 NCBI Ensembl UCSC
GRCh38/hg38: chr8:41929479-42051987 NCBI Ensembl UCSC
MANE Select Transcript
NM_006766.5 ENST00000265713.8 (Read more about MANE Select)
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. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:179... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15973
ClinGen Curation ID:
CCID:007347
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/28/2018

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Monarch
HI Evidence:
  • PUBMED: 25728777
    Tham et al. (2015): A multi-center whole exome study found de novo, heterozygous truncating mutations in KAT6A six individuals from five families. The inactivating mutations were associated with a common phenotype of intellectual disability, hypotonia, cranio-facial and cardiac defects.
  • PUBMED: 27133397
    Millan et al.(2016): Whole exome studies of 1,028 trios revealed de novo heterozygous mutations in KAT6A in six unrelated patients. Five of these were truncating and one was a missense mutation. All six patients had severe neurodevelopmental delay. Phenotypes shared amongst some included hypotonia, speech impairment, microcephaly and dysmorphic features.
  • PUBMED: 25728775
    Arboleda et al. (2015): Clinical exome sequencing identified de novo, heterozygous, nonsense mutations in KAT6A in four unrelated patients. All four had primary microcephaly, global delay with profound speech delay, and craniofacial abnormalities.
HI Evidence Comments:
KAT6A plays important roles in transcriptional regulation and developmental gene expression. Although originally identified as part of a fusion with TIF2 in AML, recent exome trio studies have found that de novo, heterozygous inactivating mutations in KAT6A are responsible for Mental retardation, autosomal dominant 32.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)