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)
Related Links:
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)