• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ASXL2 (HGNC:23805) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ASXL transcriptional regulator 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ASXH2, FLJ10898, KIAA1685
%HI
43.83(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.15(Read more about gnomAD LOEUF score)
Cytoband
2p23.3
Genomic Coordinates
GRCh37/hg19: chr2:25956622-26101356 NCBI Ensembl UCSC
GRCh38/hg38: chr2:25733753-25878487 NCBI Ensembl UCSC
MANE Select Transcript
NM_018263.6 ENST00000435504.9 (Read more about MANE Select)
Function
Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8152
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/28/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
27693232 Shashi (2016) performed whole exome sequencing on six unrelated probands with developmental delay, macrocephaly, dysmorphic features. All six had de novo truncating variants in ASXL2. The patients had a specific phenotype including: macrocephaly, prominent eyes, arched eyebrows, hypertelorism, glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, developmental disabilities, described as Shashi-Pena syndrome. mRNA studies performed support dominant-negative effect due to mutated transcripts escaping nonsense-mediated decay.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)