Hs05495306_cn

• Gene Symbol: SRSF1
• Assay Reference Genome Location: Chr.17:58001867 on build GRCh38
• Cytoband: 17q22

Target Gene Details

• Entrez Gene ID: 6426
• Gene Name: serine and arginine rich splicing factor 1
• Gene Aliases: ASF, SF2, SF2p33, SFRS1, SRp30a
• Location: Chr.17:58000919-58007346 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SRSF1	NM_001078166.1	3	4695	NP_001071634.1
	NM_006924.4	4	4495	NP_008855.1
	NR_034041.1	4	3774

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv952347	Chr.17:57999240 - 58005339 on Build GRCh38	Duplication	SRSF1
nsv833497	Chr.17:57929210 - 58108015 on Build GRCh38	Loss	LOC101929185 SRSF1 LOC101927666 VEZF1 DYNLL2 CUEDC1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

alternative mRNA splicing, via spliceosome
mRNA 5'-splice site recognition
mRNA splicing, via spliceosome
in utero embryonic development
termination of RNA polymerase II transcription
mRNA splice site selection
mRNA processing
RNA export from nucleus
mRNA export from nucleus
mRNA 3'-end processing
cardiac muscle contraction

Function(s)

nucleotide binding
RNA binding
mRNA binding
protein binding
poly(A) RNA binding
RS domain binding