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See other ECHS1 CNV Assays ›
Gene Symbol
ECHS1
Assay Reference Genome
Location

Chr.10:133362530 on build GRCh38
Cytoband
10q26.3
Assay ID Hs00890645_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

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 - Exon 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ECHS1 NM_004092.3 NP_004083.3
BC008906.2 AAH08906.1
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 ADGRA1 ECHS1 MIR202HG TUBGCP2 CYP2E1 ADGRA1-AS1 MIR202 FUOM ADAM8 MIR3944 VENTX SYCE1 SPRN PRAP1 KNDC1 MTG1 ZNF511 SCART1 CALY SPRNP1 PAOX UTF1
nsv470980 Chr.10:133186655 - 133409514 on Build GRCh38 Loss ECHS1 MIR202HG TUBGCP2 MIR202 FUOM ADAM8 MIR3944 VENTX PRAP1 KNDC1 MTG1 ZNF511 CALY PAOX UTF1
nsv952707 Chr.10:133333097 - 133403896 on Build GRCh38 Deletion PRAP1 ECHS1 MTG1 FUOM CALY MIR3944 PAOX
nsv428243 Chr.10:133245214 - 133767422 on Build GRCh38 Gain ECHS1 MIR202HG TUBGCP2 CYP2E1 MIR202 FUOM ADAM8 MIR3944 SYCE1 SPRN PRAP1 MTG1 ZNF511 SCART1 CALY FRG2B SPRNP1 PAOX
nsv552644 Chr.10:133328068 - 133402966 on Build GRCh38 Loss PRAP1 ECHS1 MTG1 FUOM CALY MIR3944 PAOX
dgv2e196 Chr.10:133189913 - 133450541 on Build GRCh38 Duplication ECHS1 MIR202HG TUBGCP2 MIR202 FUOM ADAM8 MIR3944 VENTX SPRN PRAP1 KNDC1 MTG1 ZNF511 CALY PAOX UTF1
esv3625043 Chr.10:133327691 - 133373131 on Build GRCh38 Gain PRAP1 ECHS1 FUOM CALY MIR3944
nsv1052904 Chr.10:133298340 - 133769367 on Build GRCh38 Gain ECHS1 TUBGCP2 CYP2E1 FUOM MIR3944 SYCE1 SPRN PRAP1 MTG1 ZNF511 SCART1 CALY FRG2B SPRNP1 PAOX
nsv1037772 Chr.10:133263092 - 133403671 on Build GRCh38 Gain PRAP1 ECHS1 MTG1 ZNF511 TUBGCP2 FUOM ADAM8 CALY MIR3944 PAOX
esv3625030 Chr.10:133200862 - 133379742 on Build GRCh38 Gain ECHS1 MIR202HG TUBGCP2 MIR202 FUOM ADAM8 MIR3944 VENTX PRAP1 KNDC1 ZNF511 CALY PAOX UTF1
nsv528260 Chr.10:132859348 - 133620799 on Build GRCh38 Loss ADGRA1 ECHS1 CYP2E1 ADGRA1-AS1 ADAM8 MIR3944 SPRNP1 MIR202HG TUBGCP2 LINC01168 MIR202 FUOM VENTX SYCE1 SPRN PRAP1 KNDC1 MTG1 ZNF511 CFAP46 LINC01167 SCART1 CALY LINC01166 PAOX UTF1
esv2750853 Chr.10:133266358 - 133621047 on Build GRCh38 Gain ECHS1 TUBGCP2 CYP2E1 FUOM ADAM8 MIR3944 SYCE1 SPRN PRAP1 MTG1 ZNF511 SCART1 CALY SPRNP1 PAOX
nsv527785 Chr.10:133344451 - 133402966 on Build GRCh38 Loss PRAP1 ECHS1 MTG1 FUOM MIR3944 PAOX
nsv832036 Chr.10:133089509 - 133368232 on Build GRCh38 Loss ADGRA1 ECHS1 MIR202HG TUBGCP2 MIR202 FUOM ADAM8 VENTX PRAP1 KNDC1 ZNF511 CALY UTF1
dgv3e196 Chr.10:133266297 - 133450541 on Build GRCh38 Duplication SPRN PRAP1 ECHS1 MTG1 ZNF511 TUBGCP2 FUOM ADAM8 CALY MIR3944 PAOX
nsv832040 Chr.10:133301560 - 133412641 on Build GRCh38 Loss PRAP1 ECHS1 MTG1 ZNF511 TUBGCP2 FUOM CALY MIR3944 PAOX
nsv552589 Chr.10:133257500 - 133563944 on Build GRCh38 Gain ECHS1 TUBGCP2 CYP2E1 FUOM ADAM8 MIR3944 SYCE1 SPRN PRAP1 MTG1 ZNF511 SCART1 CALY PAOX

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

hydratase

Gene Ontology Categories:

Function(s) Process(es)


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