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

Chr.10:133366475 on build GRCh38
Cytoband
10q26.3
Assay ID Hs03742599_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:

 Within Intron 5
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 MIR202 ADAM8 SCART1 KNDC1 MIR202HG SPRN MIR3944 ADGRA1 MTG1 VENTX SPRNP1 CALY FUOM CYP2E1 TUBGCP2 PRAP1 ADGRA1-AS1 SYCE1 PAOX ZNF511 ECHS1 UTF1
nsv470980 Chr.10:133186655 - 133409514 on Build GRCh38 Loss MIR202 ADAM8 KNDC1 MIR202HG MIR3944 MTG1 VENTX CALY FUOM TUBGCP2 PRAP1 PAOX ZNF511 ECHS1 UTF1
nsv952707 Chr.10:133333097 - 133403896 on Build GRCh38 Deletion MTG1 CALY FUOM PRAP1 PAOX ECHS1 MIR3944
nsv428243 Chr.10:133245214 - 133767422 on Build GRCh38 Gain MIR202 ADAM8 SCART1 MIR202HG SPRN MIR3944 MTG1 SPRNP1 CALY FUOM FRG2B CYP2E1 TUBGCP2 PRAP1 SYCE1 PAOX ZNF511 ECHS1
nsv552644 Chr.10:133328068 - 133402966 on Build GRCh38 Loss MTG1 CALY FUOM PRAP1 PAOX ECHS1 MIR3944
nsv470981 Chr.10:133365107 - 133620799 on Build GRCh38 Gain MTG1 SPRNP1 CYP2E1 SCART1 SYCE1 PAOX ECHS1 SPRN MIR3944
dgv2e196 Chr.10:133189913 - 133450541 on Build GRCh38 Duplication MIR202 ADAM8 KNDC1 MIR202HG SPRN MIR3944 MTG1 VENTX CALY FUOM TUBGCP2 PRAP1 PAOX ZNF511 ECHS1 UTF1
esv3625043 Chr.10:133327691 - 133373131 on Build GRCh38 Gain CALY FUOM PRAP1 ECHS1 MIR3944
nsv1052904 Chr.10:133298340 - 133769367 on Build GRCh38 Gain SCART1 SPRN MIR3944 MTG1 SPRNP1 CALY FUOM FRG2B CYP2E1 TUBGCP2 PRAP1 SYCE1 PAOX ZNF511 ECHS1
nsv1037772 Chr.10:133263092 - 133403671 on Build GRCh38 Gain MTG1 CALY FUOM TUBGCP2 ADAM8 PRAP1 PAOX ZNF511 ECHS1 MIR3944
esv3625030 Chr.10:133200862 - 133379742 on Build GRCh38 Gain MIR202 ADAM8 KNDC1 MIR202HG MIR3944 VENTX CALY FUOM TUBGCP2 PRAP1 PAOX ZNF511 ECHS1 UTF1
nsv528260 Chr.10:132859348 - 133620799 on Build GRCh38 Loss MIR202 CFAP46 SCART1 KNDC1 SPRN MIR3944 ADGRA1 MTG1 VENTX FUOM TUBGCP2 SYCE1 PAOX ZNF511 ECHS1 ADAM8 MIR202HG LINC01167 LINC01166 SPRNP1 CALY CYP2E1 LINC01168 PRAP1 ADGRA1-AS1 UTF1
esv2750853 Chr.10:133266358 - 133621047 on Build GRCh38 Gain ADAM8 SCART1 SPRN MIR3944 MTG1 SPRNP1 CALY FUOM CYP2E1 TUBGCP2 PRAP1 SYCE1 PAOX ZNF511 ECHS1
nsv527785 Chr.10:133344451 - 133402966 on Build GRCh38 Loss MTG1 FUOM PRAP1 PAOX ECHS1 MIR3944
nsv832036 Chr.10:133089509 - 133368232 on Build GRCh38 Loss MIR202 ADAM8 KNDC1 MIR202HG ADGRA1 VENTX CALY FUOM TUBGCP2 PRAP1 ZNF511 ECHS1 UTF1
dgv3e196 Chr.10:133266297 - 133450541 on Build GRCh38 Duplication MTG1 CALY FUOM TUBGCP2 ADAM8 PRAP1 PAOX ZNF511 ECHS1 SPRN MIR3944
nsv832040 Chr.10:133301560 - 133412641 on Build GRCh38 Loss MTG1 CALY FUOM TUBGCP2 PRAP1 PAOX ZNF511 ECHS1 MIR3944
nsv552589 Chr.10:133257500 - 133563944 on Build GRCh38 Gain ADAM8 SCART1 SPRN MIR3944 MTG1 CALY FUOM CYP2E1 TUBGCP2 PRAP1 SYCE1 PAOX ZNF511 ECHS1

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

hydratase

Gene Ontology Categories:

Function(s) Process(es)


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