SUZ12 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SUZ12 (HGNC:17101) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SUZ12 polycomb repressive complex 2 subunit
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- JJAZ1, KIAA0160, CHET9
- %HI
- 3.13(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.34(Read more about gnomAD LOEUF score)
- Cytoband
- 17q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:30264026-30328057 NCBI Ensembl UCSC GRCh38/hg38: chr17:31937007-32001038 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015355.4 ENST00000322652.10 (Read more about MANE Select)
- Function
- Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:15231737, PubMed:15385962, PubMed:16618801, PubMed:17344414, PubMed:18285464, PubMed:28229514, PubMed:29499137, PubMed:31959557). The PRC2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems (PubMed:124... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22133
ClinGen Curation ID:
CCID:007959
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/06/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Studies in mouse have demonstrated that haploinsufficiency of SUZ12 results in cerebellar herniation and an enlarged brainstem, accompanied by occipital cortical alterations and spina bifida (PMID:19535498). Somatic loss of function mutation in SUZ12 have been associated with T-ALL (PMIDs:22237151 and 22237106). However, germline loss of function mutations or focal deletions of SUZ12 have not been described.
5-10% of the NF patients show a large deletion including the SUZ12 gene. Haploinsuffiency of SUZ12 has been proposed to be responsible for the brain malformation, brain malfunction and/or congenital heart defects of these patients.
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)