SRSF8

Chr 11

serine and arginine rich splicing factor 8

Also known as: DSM-1, SFRS2B, SRP46

NCBI Gene: 10929 ENSG00000263465 UniProt: Q9BRL6 OMIM: 603269

This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SRSF8?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

450 rare PASS variants

Rare truncating (LoF)

1 in 1,900

53 rare PASS variants

Rare synonymous (reference)

1 in 190

180 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SRSF8. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 2,300
South Asian	~43k	1 in 120	1 in 400
Remaining (unassigned)	~30k	1 in 140	1 in 3,300
European (Finnish)	~27k	1 in 510	≈ 1 in 13,000
Admixed American	~22k	1 in 160	≈ 1 in 11,000
African / African American	~21k	1 in 130	≈ 1 in 4,600
East Asian	~20k	1 in 220	1 in 1,500
Ashkenazi Jewish	~13k	1 in 310	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 140	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓