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

Chr.10:133373200 on build GRCh38
Cytoband
10q26.3
Assay ID Hs03743254_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 1 - Exon 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 MIR3944 ADGRA1-AS1 ADGRA1 MIR202HG TUBGCP2 ADAM8 UTF1 FUOM CYP2E1 SPRNP1 PAOX ZNF511 MIR202 CALY PRAP1 SPRN MTG1 KNDC1 ECHS1 VENTX SCART1 SYCE1
nsv470980 Chr.10:133186655 - 133409514 on Build GRCh38 Loss MIR3944 MIR202HG TUBGCP2 ADAM8 UTF1 FUOM PAOX ZNF511 MIR202 CALY PRAP1 MTG1 KNDC1 ECHS1 VENTX
nsv952707 Chr.10:133333097 - 133403896 on Build GRCh38 Deletion MIR3944 MTG1 FUOM ECHS1 PAOX CALY PRAP1
nsv428243 Chr.10:133245214 - 133767422 on Build GRCh38 Gain MIR3944 MIR202HG TUBGCP2 ADAM8 FUOM CYP2E1 SPRNP1 PAOX ZNF511 MIR202 CALY PRAP1 FRG2B SPRN MTG1 ECHS1 SCART1 SYCE1
nsv552644 Chr.10:133328068 - 133402966 on Build GRCh38 Loss MIR3944 MTG1 FUOM ECHS1 PAOX CALY PRAP1
nsv470981 Chr.10:133365107 - 133620799 on Build GRCh38 Gain MIR3944 SPRN MTG1 ECHS1 SCART1 CYP2E1 SPRNP1 PAOX SYCE1
dgv2e196 Chr.10:133189913 - 133450541 on Build GRCh38 Duplication MIR3944 MIR202HG TUBGCP2 ADAM8 UTF1 FUOM PAOX ZNF511 MIR202 CALY PRAP1 SPRN MTG1 KNDC1 ECHS1 VENTX
nsv1070416 Chr.10:133372595 - 133373196 on Build GRCh38 Deletion ECHS1
dgv35e55 Chr.10:133370615 - 133621047 on Build GRCh38 Gain MIR3944 SPRN MTG1 ECHS1 SCART1 CYP2E1 SPRNP1 PAOX SYCE1
nsv1052904 Chr.10:133298340 - 133769367 on Build GRCh38 Gain MIR3944 TUBGCP2 FUOM CYP2E1 SPRNP1 PAOX ZNF511 CALY PRAP1 FRG2B SPRN MTG1 ECHS1 SCART1 SYCE1
nsv1037772 Chr.10:133263092 - 133403671 on Build GRCh38 Gain MIR3944 TUBGCP2 MTG1 ADAM8 FUOM ECHS1 PAOX ZNF511 CALY PRAP1
esv3625030 Chr.10:133200862 - 133379742 on Build GRCh38 Gain MIR3944 MIR202HG TUBGCP2 ADAM8 UTF1 FUOM PAOX ZNF511 MIR202 CALY PRAP1 KNDC1 ECHS1 VENTX
nsv528260 Chr.10:132859348 - 133620799 on Build GRCh38 Loss MIR3944 ADGRA1-AS1 MIR202HG TUBGCP2 ADAM8 UTF1 FUOM CYP2E1 SPRNP1 PAOX MIR202 CALY MTG1 KNDC1 SCART1 LINC01166 ADGRA1 LINC01167 CFAP46 ZNF511 LINC01168 PRAP1 SPRN ECHS1 VENTX SYCE1
esv2750853 Chr.10:133266358 - 133621047 on Build GRCh38 Gain MIR3944 TUBGCP2 ADAM8 FUOM CYP2E1 SPRNP1 PAOX ZNF511 CALY PRAP1 SPRN MTG1 ECHS1 SCART1 SYCE1
nsv527785 Chr.10:133344451 - 133402966 on Build GRCh38 Loss MIR3944 MTG1 FUOM ECHS1 PAOX PRAP1
nsv1121827 Chr.10:133372696 - 133373196 on Build GRCh38 Deletion ECHS1
dgv3e196 Chr.10:133266297 - 133450541 on Build GRCh38 Duplication MIR3944 SPRN TUBGCP2 MTG1 ADAM8 FUOM ECHS1 PAOX ZNF511 CALY PRAP1
nsv832040 Chr.10:133301560 - 133412641 on Build GRCh38 Loss MIR3944 TUBGCP2 MTG1 FUOM ECHS1 PAOX ZNF511 CALY PRAP1
nsv552589 Chr.10:133257500 - 133563944 on Build GRCh38 Gain MIR3944 TUBGCP2 ADAM8 FUOM CYP2E1 PAOX ZNF511 CALY PRAP1 SPRN MTG1 ECHS1 SCART1 SYCE1

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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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