Hs06144697_cn

• Gene Symbol: ELOVL5
• Assay Reference Genome Location: Chr.6:53272661 on build GRCh38
• Cytoband: 6p12.1

Target Gene Details

• Entrez Gene ID: 60481
• Gene Name: ELOVL fatty acid elongase 5
• Gene Aliases: HELO1, SCA38, dJ483K16.1
• Location: Chr.6:53267398-53349179 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ELOVL5	NM_001242828.1			NP_001229757.1
	NM_001242830.1			NP_001229759.1
	NM_001301856.1			NP_001288785.1
	NM_021814.4			NP_068586.1
	AB209798.1			BAD93035.1
	AF231981.1			AAF70631.1
	AF338241.1			AAM00193.1
	AK074748.1			BAC11178.1
	AK074889.1			BAC11270.1
	AK125098.1
	AK299674.1
	AK302948.1
	AL136939.1			CAB66873.1
	BC017270.2			AAH17270.2
	BC067123.1			AAH67123.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1033994	Chr.6:53225739 - 53458464 on Build GRCh38	Gain	GCM1 MIR5685 ELOVL5 RPS16P5
esv2763940	Chr.6:53228517 - 53622284 on Build GRCh38	Gain+Loss	GCM1 MIR5685 GCLC LOC101927136 ELOVL5 RPS16P5

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

unsaturated fatty acid biosynthetic process
fatty acid elongation, saturated fatty acid
sphingolipid biosynthetic process
fatty acid elongation, monounsaturated fatty acid
fatty acid elongation, polyunsaturated fatty acid
long-chain fatty-acyl-CoA biosynthetic process
alpha-linolenic acid metabolic process
very long-chain fatty acid biosynthetic process
linoleic acid metabolic process

Function(s)

protein binding
fatty acid elongase activity
3-oxo-arachidoyl-CoA synthase activity
3-oxo-cerotoyl-CoA synthase activity
3-oxo-lignoceronyl-CoA synthase activity