SUPT16H

  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SUPT16H (HGNC:11465) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SPT16 homolog, facilitates chromatin remodeling subunit
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68
%HI
22.56(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.12(Read more about gnomAD LOEUF score)
Cytoband
14q11.2
Genomic Coordinates
GRCh37/hg19: chr14:21819635-21852178 NCBI Ensembl UCSC
GRCh38/hg38: chr14:21351476-21384019 NCBI Ensembl UCSC
MANE Select Transcript
NM_007192.4 ENST00000216297.7 (Read more about MANE Select)
Function
Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14761
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/09/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Originally targeted for 14q11.2 deletion syndrome (mild developmental delay, cognitive impairment, and minor physical abnormalities). Minimal 14q11.2 region is 35 kilobases and includes 2 genes, SUPT16H and CHD8 (Zahir et al 2007, PMID: 17545556). Mutations of SUPT16H alone have not been reported in human patients.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)