Hs01496544_cn

• Gene Symbol: DEGS1
• Assay Reference Genome Location: Chr.1:224183316 on build GRCh38
• Cytoband: 1q42.11

Target Gene Details

• Entrez Gene ID: 8560
• Gene Name: delta 4-desaturase, sphingolipid 1
• Gene Aliases: DEGS, DEGS-1, DES1, Des-1, FADS7, MIG15, MLD
• Location: Chr.1:224183208-224193441 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEGS1	NM_001321541.1	1	109	NP_001308470.1
	NM_003676.3	1	109	NP_003667.1
	AF002668.1	1	51	AAB62238.1
	AF466375.1	1	60	AAM12531.1
	AK308232.1	1	77
	AU126996.1	1	109
	AY423730.1	1	57	AAS00493.1
	BC000961.2	1	91	AAH00961.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832692	Chr.1:224018834 - 224220015 on Build GRCh38	Gain	LOC100287497 DEGS1 LOC107985330 LOC101927143 LOC101927164 FBXO28
nsv8857	Chr.1:224172241 - 224195321 on Build GRCh38	Gain	DEGS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

hydroxylase

Gene Ontology Categories:

Process(es)

unsaturated fatty acid biosynthetic process
sphingolipid biosynthetic process
ceramide biosynthetic process
oxidation-reduction process

Function(s)

electron carrier activity
sphingolipid delta-4 desaturase activity