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

Chr.10:133369925 on build GRCh38
Cytoband
10q26.3
Assay ID Hs01349001_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 Intron 3 - Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ECHS1 NM_004092.3 NP_004083.3
BC008906.2 AAH08906.1
BE906357.1
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 TUBGCP2 ADAM8 UTF1 FUOM ZNF511 SCART1 ECHS1 CALY KNDC1 SPRNP1 VENTX PAOX ADGRA1 SPRN MTG1 MIR202HG PRAP1 CYP2E1 MIR202 SYCE1 ADGRA1-AS1 MIR3944
nsv470980 Chr.10:133186655 - 133409514 on Build GRCh38 Loss TUBGCP2 ADAM8 UTF1 FUOM ZNF511 ECHS1 CALY KNDC1 VENTX PAOX MTG1 MIR202HG PRAP1 MIR202 MIR3944
nsv952707 Chr.10:133333097 - 133403896 on Build GRCh38 Deletion FUOM MTG1 ECHS1 CALY PRAP1 PAOX MIR3944
nsv428243 Chr.10:133245214 - 133767422 on Build GRCh38 Gain TUBGCP2 ADAM8 FUOM ZNF511 SCART1 ECHS1 CALY SPRNP1 FRG2B PAOX SPRN MTG1 MIR202HG PRAP1 CYP2E1 MIR202 SYCE1 MIR3944
nsv552644 Chr.10:133328068 - 133402966 on Build GRCh38 Loss FUOM MTG1 ECHS1 CALY PRAP1 PAOX MIR3944
nsv470981 Chr.10:133365107 - 133620799 on Build GRCh38 Gain SPRN SCART1 MTG1 ECHS1 SPRNP1 CYP2E1 PAOX SYCE1 MIR3944
dgv2e196 Chr.10:133189913 - 133450541 on Build GRCh38 Duplication TUBGCP2 ADAM8 UTF1 FUOM ZNF511 ECHS1 CALY KNDC1 VENTX PAOX SPRN MTG1 MIR202HG PRAP1 MIR202 MIR3944
esv3625043 Chr.10:133327691 - 133373131 on Build GRCh38 Gain FUOM ECHS1 CALY PRAP1 MIR3944
nsv1052904 Chr.10:133298340 - 133769367 on Build GRCh38 Gain TUBGCP2 FUOM ZNF511 SCART1 ECHS1 CALY SPRNP1 FRG2B PAOX SPRN MTG1 PRAP1 CYP2E1 SYCE1 MIR3944
nsv1037772 Chr.10:133263092 - 133403671 on Build GRCh38 Gain TUBGCP2 ADAM8 FUOM ZNF511 MTG1 ECHS1 CALY PRAP1 PAOX MIR3944
esv3625030 Chr.10:133200862 - 133379742 on Build GRCh38 Gain TUBGCP2 ADAM8 UTF1 FUOM ZNF511 ECHS1 CALY KNDC1 VENTX PAOX MIR202HG PRAP1 MIR202 MIR3944
nsv528260 Chr.10:132859348 - 133620799 on Build GRCh38 Loss LINC01168 SCART1 KNDC1 SPRNP1 VENTX PAOX ADGRA1 LINC01166 SPRN LINC01167 MIR202HG CYP2E1 SYCE1 MIR3944 TUBGCP2 ADAM8 UTF1 CFAP46 FUOM ZNF511 ECHS1 CALY MTG1 PRAP1 MIR202 ADGRA1-AS1
esv2750853 Chr.10:133266358 - 133621047 on Build GRCh38 Gain TUBGCP2 ADAM8 FUOM ZNF511 SCART1 ECHS1 CALY SPRNP1 PAOX SPRN MTG1 PRAP1 CYP2E1 SYCE1 MIR3944
nsv527785 Chr.10:133344451 - 133402966 on Build GRCh38 Loss FUOM MTG1 ECHS1 PRAP1 PAOX MIR3944
dgv3e196 Chr.10:133266297 - 133450541 on Build GRCh38 Duplication TUBGCP2 ADAM8 FUOM SPRN ZNF511 MTG1 ECHS1 CALY PRAP1 PAOX MIR3944
nsv832040 Chr.10:133301560 - 133412641 on Build GRCh38 Loss TUBGCP2 FUOM ZNF511 MTG1 ECHS1 CALY PRAP1 PAOX MIR3944
nsv552589 Chr.10:133257500 - 133563944 on Build GRCh38 Gain TUBGCP2 ADAM8 FUOM ZNF511 SCART1 ECHS1 CALY PAOX SPRN MTG1 PRAP1 CYP2E1 SYCE1 MIR3944

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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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