Hs04419017_cn

• Gene Symbol: SFSWAP
• Assay Reference Genome Location: Chr.12:131722014 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 6433
• Gene Name: splicing factor SWAP homolog
• Gene Aliases: SFRS8, SWAP
• Location: Chr.12:131711087-131799738 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SFSWAP	NM_001261411.1			NP_001248340.1
	NM_004592.3			NP_004583.2
	XM_011538653.1			XP_011536955.1
	XM_011538654.2			XP_011536956.1
	XM_011538655.2			XP_011536957.1
	XM_017019798.1			XP_016875287.1
	XM_017019799.1			XP_016875288.1
	AB208921.1			BAD92158.1
	BC008707.2			AAH08707.1
	BC015953.2			AAH15953.1
	BC024041.1			AAH24041.1
	BC136678.1
	BC144364.1
	U08377.1			AAA19604.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3631272	Chr.12:131697838 - 131723410 on Build GRCh38	Gain	SFSWAP
esv34554	Chr.12:131284620 - 131807802 on Build GRCh38	Gain	LOC100996701 LOC100128002 SFSWAP LOC338797 LOC107161159
esv2761778	Chr.12:131668187 - 131735245 on Build GRCh38	Gain	SFSWAP
nsv818946	Chr.12:131631122 - 131760256 on Build GRCh38	Gain	LOC100996701 SFSWAP
nsv1047271	Chr.12:131597710 - 131742961 on Build GRCh38	Gain	LOC100996701 SFSWAP
esv2759922	Chr.12:131238746 - 131784349 on Build GRCh38	Gain+Loss	LOC100996701 LOC100128002 SFSWAP LOC338797 LOC107161159
nsv826560	Chr.12:131695304 - 131761272 on Build GRCh38	Gain	SFSWAP
dgv1588n100	Chr.12:131696755 - 131753633 on Build GRCh38	Gain	SFSWAP
dgv3007n54	Chr.12:131701134 - 131725518 on Build GRCh38	Loss	SFSWAP
nsv9044	Chr.12:131683504 - 131763120 on Build GRCh38	Gain	SFSWAP

More Information

• Set Membership: Intragenic, Intronic, Non-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
transcription, DNA-templated
regulation of transcription, DNA-templated
negative regulation of mRNA splicing, via spliceosome

Function(s)

RNA binding
protein binding