SUPT16H

Chr 14AD

SPT16 homolog, facilitates chromatin remodeling subunit

Also known as: CDC68, FACTP140, NEDDFAC, SPT16, SPT16/CDC68

NCBI Gene: 11198 ENSG00000092201 UniProt: Q9Y5B9 OMIM: 605012

SUPT16H encodes the 140 kDa subunit of the FACT chromatin remodeling complex, which acts as a histone chaperone to facilitate nucleosome disassembly and reassembly during transcription elongation, DNA replication, and repair. Mutations cause autosomal dominant neurodevelopmental disorder with dysmorphic facies and thin corpus callosum. This gene is extremely intolerant to loss-of-function variants (pLI = 1.0, LOEUF = 0.12), indicating high constraint against protein-truncating mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with dysmorphic facies and thin corpus callosumMIM #619480

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted