Hs02276510_cn

• Gene Symbol: DEGS2
• Assay Reference Genome Location: Chr.14:100149432 on build GRCh38
• Cytoband: 14q32.2

Target Gene Details

• Entrez Gene ID: 123099
• Gene Name: delta 4-desaturase, sphingolipid 2
• Gene Aliases: C14orf66, DES2, FADS8
• Location: Chr.14:100146416-100166886 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEGS2	NM_206918.2	2	449	NP_996801.2
	XM_006720043.3	3	464	XP_006720106.1
	AY541700.1	2	369	AAS68362.1
	BC063598.1	2	396	AAH63598.1
	BM789564.1	2	449

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524413	Chr.14:100141023 - 100171898 on Build GRCh38	Loss	DEGS2 EVL
nsv832874	Chr.14:100068470 - 100218507 on Build GRCh38	Loss	DEGS2 EVL MIR342 MIR151B
esv1000926	Chr.14:100147472 - 100155026 on Build GRCh38	Deletion	DEGS2
nsv527130	Chr.14:100106617 - 100179544 on Build GRCh38	Loss	DEGS2 EVL MIR342 MIR151B
nsv952238	Chr.14:100112364 - 100161163 on Build GRCh38	Deletion	DEGS2 EVL
dgv1969n100	Chr.14:100120420 - 100198944 on Build GRCh38	Gain	DEGS2 EVL

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

hydroxylase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

sphinganine metabolic process
sphingolipid biosynthetic process
ceramide biosynthetic process
oxidation-reduction process

Function(s)

sphingosine hydroxylase activity
sphingolipid delta-4 desaturase activity