SCAF4

Chr 21AD

SR-related CTD associated factor 4

Also known as: FZS, SFRS15, SRA4

NCBI Gene: 57466 ENSG00000156304 UniProt: O95104 OMIM: 616023

The protein functions as an anti-terminator that prevents premature mRNA termination during transcription by suppressing early polyadenylation sites and binding to RNA polymerase II. Mutations cause Fliedner-Zweier syndrome, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.106), indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Fliedner-Zweier syndromeMIM #620511

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.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

0.11

LOEUF· LoF intol.

LOF

Mechanism· G2P