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

Chr.10:133365937 on build GRCh38
Cytoband
10q26.3
Assay ID Hs02960953_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Intron 6 - Exon 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ECHS1 NM_004092.3 NP_004083.3
BC008906.2 AAH08906.1
BQ130816.1
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 CALY ECHS1 FUOM SPRN SYCE1 ADGRA1 VENTX KNDC1 CYP2E1 ZNF511 ADAM8 SPRNP1 MIR3944 UTF1 PRAP1 ADGRA1-AS1 PAOX SCART1 MIR202HG MTG1 TUBGCP2 MIR202
nsv470980 Chr.10:133186655 - 133409514 on Build GRCh38 Loss CALY ECHS1 FUOM VENTX KNDC1 ZNF511 ADAM8 MIR3944 UTF1 PRAP1 PAOX MIR202HG MTG1 TUBGCP2 MIR202
nsv952707 Chr.10:133333097 - 133403896 on Build GRCh38 Deletion CALY MIR3944 PRAP1 ECHS1 FUOM PAOX MTG1
nsv428243 Chr.10:133245214 - 133767422 on Build GRCh38 Gain CALY ECHS1 FUOM SPRN SYCE1 CYP2E1 ZNF511 ADAM8 SPRNP1 MIR3944 PRAP1 PAOX SCART1 FRG2B MIR202HG MTG1 TUBGCP2 MIR202
nsv552644 Chr.10:133328068 - 133402966 on Build GRCh38 Loss CALY MIR3944 PRAP1 ECHS1 FUOM PAOX MTG1
nsv470981 Chr.10:133365107 - 133620799 on Build GRCh38 Gain SPRNP1 MIR3944 ECHS1 SPRN SYCE1 PAOX SCART1 CYP2E1 MTG1
dgv2e196 Chr.10:133189913 - 133450541 on Build GRCh38 Duplication CALY ECHS1 FUOM SPRN VENTX KNDC1 ZNF511 ADAM8 MIR3944 UTF1 PRAP1 PAOX MIR202HG MTG1 TUBGCP2 MIR202
esv3625043 Chr.10:133327691 - 133373131 on Build GRCh38 Gain CALY MIR3944 PRAP1 ECHS1 FUOM
nsv1052904 Chr.10:133298340 - 133769367 on Build GRCh38 Gain CALY ECHS1 FUOM SPRN SYCE1 CYP2E1 ZNF511 SPRNP1 MIR3944 PRAP1 PAOX SCART1 FRG2B MTG1 TUBGCP2
nsv1037772 Chr.10:133263092 - 133403671 on Build GRCh38 Gain ZNF511 ADAM8 CALY MIR3944 PRAP1 ECHS1 FUOM PAOX MTG1 TUBGCP2
esv3625030 Chr.10:133200862 - 133379742 on Build GRCh38 Gain CALY ECHS1 FUOM VENTX KNDC1 ZNF511 ADAM8 MIR3944 UTF1 PRAP1 PAOX MIR202HG TUBGCP2 MIR202
nsv528260 Chr.10:132859348 - 133620799 on Build GRCh38 Loss CALY ECHS1 FUOM ADGRA1 ADAM8 UTF1 PRAP1 LINC01167 ADGRA1-AS1 PAOX SCART1 MTG1 MIR202 LINC01168 LINC01166 SPRN SYCE1 VENTX KNDC1 CYP2E1 ZNF511 SPRNP1 MIR3944 CFAP46 MIR202HG TUBGCP2
esv2750853 Chr.10:133266358 - 133621047 on Build GRCh38 Gain CALY ECHS1 FUOM SPRN SYCE1 CYP2E1 ZNF511 ADAM8 SPRNP1 MIR3944 PRAP1 PAOX SCART1 MTG1 TUBGCP2
nsv527785 Chr.10:133344451 - 133402966 on Build GRCh38 Loss MIR3944 PRAP1 ECHS1 FUOM PAOX MTG1
nsv832036 Chr.10:133089509 - 133368232 on Build GRCh38 Loss CALY ECHS1 FUOM ADGRA1 VENTX KNDC1 ZNF511 ADAM8 UTF1 PRAP1 MIR202HG TUBGCP2 MIR202
dgv3e196 Chr.10:133266297 - 133450541 on Build GRCh38 Duplication ZNF511 ADAM8 CALY MIR3944 PRAP1 ECHS1 FUOM SPRN PAOX MTG1 TUBGCP2
nsv832040 Chr.10:133301560 - 133412641 on Build GRCh38 Loss ZNF511 CALY MIR3944 PRAP1 ECHS1 FUOM PAOX MTG1 TUBGCP2
nsv552589 Chr.10:133257500 - 133563944 on Build GRCh38 Gain CALY ECHS1 FUOM SPRN SYCE1 CYP2E1 ZNF511 ADAM8 MIR3944 PRAP1 PAOX SCART1 MTG1 TUBGCP2

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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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