KANSL1
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KANSL1 (HGNC:24565) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
KAT8 regulatory NSL complex subunit 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KIAA1267
Alias symbols
DKFZP727C091, MSL1v1, CENP-36, NSL1
%HI
16.23(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.33(Read more about gnomAD LOEUF score)
Cytoband
17q21.31
Genomic Coordinates
GRCh37/hg19: chr17:44107282-44302733 NCBI Ensembl UCSC
GRCh38/hg38: chr17:46029916-46225367 NCBI Ensembl UCSC
MANE Select Transcript
NM_015443.4 ENST00000432791.7 (Read more about MANE Select)
Function
As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. {ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:22547026}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13681
ClinGen Curation ID:
CCID:007345
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...
Related Links:
Last Evaluated:
04/11/2013

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 22544363
    Koolen et al. (2012) identified one nonsense and one splice-site mutation in KANSL1 in two unrelated individuals with features of the 17q21.31 microdeletion syndrome. The splice-site mutation resulted in skipping of exon 6, causing a frameshift and premature termination of the KANSL1 mRNA. Both changes occurred de novo. Separately, the group performed whole-transcriptome (mRNA) sequencing on EBV transformed cell lines from 3 individuals with the classical 17q21.31 deletion and two of their unaffected parents: expression levels of KANSL1 were reduced by half in the individuals with the deletion.
  • PUBMED: 22544367
    Zollino et al. (2012) report two additional unrelated Italian individuals with features of the 17q21.31 microdeletion syndrome and heterozygous mutations in KANSL1: one nonsense mutation and one frameshift mutation that introduces a premature stop codon in exon 13. Both mutations were de novo; neither mutation was reported in the 1000 Genome Projects, in dbSNP, or amongst 400 control individuals of Italian origin.
HI Evidence Comments:
From OMIM: Koolen-De Vries syndrome (also known as 17q21.31 microdeletion syndrome) is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)