Hs02059479_cn

• Gene Symbol: ECHS1
• Assay Reference Genome Location: Chr.10:133370758 on build GRCh38
• Cytoband: 10q26.3

Target Gene Details

• Entrez Gene ID: 1892
• Gene Name: enoyl-CoA hydratase, short chain 1
• Gene Aliases: ECHS1D, SCEH
• Location: Chr.10:133362483-133373404 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ECHS1	NM_004092.3			NP_004083.3
	BC008906.2			AAH08906.1
	BE906357.1
	BI091611.1
	BT007123.1			AAP35787.1
	D13900.1			BAA03001.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470980	Chr.10:133186655 - 133409514 on Build GRCh38	Loss	TUBGCP2 ZNF511 FUOM PAOX UTF1 MIR202HG PRAP1 KNDC1 MIR3944 ADAM8 MTG1 ECHS1 VENTX MIR202 CALY
esv2759793	Chr.10:133030918 - 133619181 on Build GRCh38	Gain+Loss	ADGRA1-AS1 CYP2E1 ADGRA1 SPRNP1 SCART1 TUBGCP2 ZNF511 FUOM PAOX SPRN SYCE1 UTF1 MIR202HG PRAP1 KNDC1 MIR3944 ADAM8 MTG1 ECHS1 VENTX MIR202 CALY
nsv952707	Chr.10:133333097 - 133403896 on Build GRCh38	Deletion	MIR3944 FUOM PAOX MTG1 ECHS1 CALY PRAP1
nsv467509	Chr.10:133328068 - 133402966 on Build GRCh38	Loss	MIR3944 FUOM PAOX MTG1 ECHS1 CALY PRAP1
nsv428243	Chr.10:133245214 - 133767422 on Build GRCh38	Gain	FRG2B CYP2E1 SPRNP1 SCART1 TUBGCP2 ZNF511 FUOM PAOX SPRN SYCE1 MIR202HG PRAP1 MIR3944 ADAM8 MTG1 ECHS1 MIR202 CALY
nsv470981	Chr.10:133365107 - 133620799 on Build GRCh38	Gain	CYP2E1 SPRNP1 SCART1 MIR3944 PAOX MTG1 SPRN ECHS1 SYCE1
dgv2e196	Chr.10:133189913 - 133450541 on Build GRCh38	Duplication	TUBGCP2 ZNF511 FUOM PAOX SPRN UTF1 MIR202HG PRAP1 KNDC1 MIR3944 ADAM8 MTG1 ECHS1 VENTX MIR202 CALY
dgv35e55	Chr.10:133370615 - 133621047 on Build GRCh38	Gain	CYP2E1 SPRNP1 SCART1 MIR3944 PAOX MTG1 SPRN ECHS1 SYCE1
esv3625043	Chr.10:133327691 - 133373131 on Build GRCh38	Gain	MIR3944 FUOM ECHS1 CALY PRAP1
nsv1052904	Chr.10:133298340 - 133769367 on Build GRCh38	Gain	FRG2B CYP2E1 SPRNP1 SCART1 TUBGCP2 ZNF511 FUOM PAOX SPRN SYCE1 PRAP1 MIR3944 MTG1 ECHS1 CALY
nsv1037772	Chr.10:133263092 - 133403671 on Build GRCh38	Gain	TUBGCP2 MIR3944 ZNF511 FUOM PAOX ADAM8 MTG1 ECHS1 CALY PRAP1
esv3625030	Chr.10:133200862 - 133379742 on Build GRCh38	Gain	TUBGCP2 ZNF511 FUOM PAOX UTF1 MIR202HG PRAP1 KNDC1 MIR3944 ADAM8 ECHS1 VENTX MIR202 CALY
nsv527785	Chr.10:133344451 - 133402966 on Build GRCh38	Loss	MIR3944 FUOM PAOX MTG1 ECHS1 PRAP1
esv2750853	Chr.10:133266358 - 133621047 on Build GRCh38	Gain	CYP2E1 SPRNP1 SCART1 TUBGCP2 ZNF511 FUOM PAOX SPRN SYCE1 PRAP1 MIR3944 ADAM8 MTG1 ECHS1 CALY
nsv528260	Chr.10:132859348 - 133620799 on Build GRCh38	Loss	ADGRA1-AS1 CYP2E1 ADGRA1 SPRNP1 CFAP46 SCART1 TUBGCP2 ZNF511 PAOX SPRN MIR202HG PRAP1 ADAM8 MTG1 VENTX MIR202 CALY FUOM SYCE1 UTF1 KNDC1 LINC01168 LINC01167 MIR3944 ECHS1 LINC01166
dgv3e196	Chr.10:133266297 - 133450541 on Build GRCh38	Duplication	TUBGCP2 MIR3944 ZNF511 FUOM PAOX ADAM8 MTG1 SPRN ECHS1 CALY PRAP1
nsv832040	Chr.10:133301560 - 133412641 on Build GRCh38	Loss	TUBGCP2 MIR3944 ZNF511 FUOM PAOX MTG1 ECHS1 CALY PRAP1
nsv552589	Chr.10:133257500 - 133563944 on Build GRCh38	Gain	CYP2E1 SCART1 TUBGCP2 ZNF511 FUOM PAOX SPRN SYCE1 PRAP1 MIR3944 ADAM8 MTG1 ECHS1 CALY

More Information

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

Panther Classification:

Molecular Function -

hydratase

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation

Function(s)

enoyl-CoA hydratase activity
protein binding