SRSF8

serine and arginine rich splicing factor 8, the group of Serine and arginine rich splicing factors

Basic information

Region (hg38): 11:95066919-95071225

Previous symbols: [ "SFRS2B" ]

Links

ENSG00000263465

∙ NCBI:10929 ∙ OMIM:603269 ∙ HGNC:16988 ∙ Uniprot:Q9BRL6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRSF8 gene.

not_specified (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRSF8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032102.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			19 clinvar	1 clinvar		20
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	19	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in pre-mRNA alternative splicing. {ECO:0000269|PubMed:9671500}.;
Pathway: Spliceosome - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human) (Consensus)

Gene ontology

Biological process: regulation of alternative mRNA splicing, via spliceosome;mRNA cis splicing, via spliceosome
Cellular component: nucleus;cytoplasm;cytosol;nuclear speck
Molecular function: RNA binding;protein binding