ASXL2 |
- 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)