Hs03757105_cn

• Gene Symbol: ECHS1
• Assay Reference Genome Location: Chr.10:133372261 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: Within Intron 1

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
esv2759793	Chr.10:133030918 - 133619181 on Build GRCh38	Gain+Loss	MTG1 MIR202 UTF1 ZNF511 SYCE1 SCART1 ADAM8 KNDC1 CALY FUOM ADGRA1 VENTX ECHS1 SPRNP1 PAOX SPRN ADGRA1-AS1 MIR3944 PRAP1 CYP2E1 MIR202HG TUBGCP2
nsv470980	Chr.10:133186655 - 133409514 on Build GRCh38	Loss	MTG1 MIR202 UTF1 ZNF511 ADAM8 KNDC1 CALY FUOM VENTX ECHS1 PAOX MIR3944 PRAP1 MIR202HG TUBGCP2
nsv952707	Chr.10:133333097 - 133403896 on Build GRCh38	Deletion	ECHS1 PAOX MTG1 MIR3944 PRAP1 CALY FUOM
nsv428243	Chr.10:133245214 - 133767422 on Build GRCh38	Gain	MTG1 MIR202 ZNF511 SYCE1 SCART1 ADAM8 CALY FUOM ECHS1 SPRNP1 PAOX SPRN FRG2B MIR3944 PRAP1 CYP2E1 MIR202HG TUBGCP2
nsv552644	Chr.10:133328068 - 133402966 on Build GRCh38	Loss	ECHS1 PAOX MTG1 MIR3944 PRAP1 CALY FUOM
nsv470981	Chr.10:133365107 - 133620799 on Build GRCh38	Gain	ECHS1 SPRNP1 PAOX MTG1 SPRN SYCE1 SCART1 MIR3944 CYP2E1
dgv2e196	Chr.10:133189913 - 133450541 on Build GRCh38	Duplication	MTG1 MIR202 UTF1 ZNF511 ADAM8 KNDC1 CALY FUOM VENTX ECHS1 PAOX SPRN MIR3944 PRAP1 MIR202HG TUBGCP2
dgv35e55	Chr.10:133370615 - 133621047 on Build GRCh38	Gain	ECHS1 SPRNP1 PAOX MTG1 SPRN SYCE1 SCART1 MIR3944 CYP2E1
esv3625043	Chr.10:133327691 - 133373131 on Build GRCh38	Gain	ECHS1 MIR3944 PRAP1 CALY FUOM
nsv1052904	Chr.10:133298340 - 133769367 on Build GRCh38	Gain	MTG1 ZNF511 SYCE1 SCART1 CALY FUOM ECHS1 SPRNP1 PAOX SPRN FRG2B MIR3944 PRAP1 CYP2E1 TUBGCP2
nsv1037772	Chr.10:133263092 - 133403671 on Build GRCh38	Gain	ECHS1 PAOX MTG1 ZNF511 ADAM8 MIR3944 PRAP1 CALY FUOM TUBGCP2
esv3625030	Chr.10:133200862 - 133379742 on Build GRCh38	Gain	MIR202 UTF1 ZNF511 ADAM8 KNDC1 CALY FUOM VENTX ECHS1 PAOX MIR3944 PRAP1 MIR202HG TUBGCP2
nsv528260	Chr.10:132859348 - 133620799 on Build GRCh38	Loss	MTG1 MIR202 ZNF511 SYCE1 SCART1 CALY VENTX CFAP46 ECHS1 SPRNP1 SPRN PRAP1 MIR202HG UTF1 ADAM8 KNDC1 LINC01168 FUOM ADGRA1 PAOX LINC01167 ADGRA1-AS1 MIR3944 CYP2E1 LINC01166 TUBGCP2
esv2750853	Chr.10:133266358 - 133621047 on Build GRCh38	Gain	MTG1 ZNF511 SYCE1 SCART1 ADAM8 CALY FUOM ECHS1 SPRNP1 PAOX SPRN MIR3944 PRAP1 CYP2E1 TUBGCP2
nsv527785	Chr.10:133344451 - 133402966 on Build GRCh38	Loss	ECHS1 PAOX MTG1 MIR3944 PRAP1 FUOM
dgv3e196	Chr.10:133266297 - 133450541 on Build GRCh38	Duplication	ECHS1 PAOX MTG1 SPRN ZNF511 ADAM8 MIR3944 PRAP1 CALY FUOM TUBGCP2
nsv832040	Chr.10:133301560 - 133412641 on Build GRCh38	Loss	ECHS1 PAOX MTG1 ZNF511 MIR3944 PRAP1 CALY FUOM TUBGCP2
nsv552589	Chr.10:133257500 - 133563944 on Build GRCh38	Gain	MTG1 ZNF511 SYCE1 SCART1 ADAM8 CALY FUOM ECHS1 PAOX SPRN MIR3944 PRAP1 CYP2E1 TUBGCP2

More Information

Additional Information:

For this assay, SNP(s) [rs78741598] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, 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