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

Chr.10:133364700 on build GRCh38
Cytoband
10q26.3
Assay ID Hs00907918_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 - Intron 7
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 SPRNP1 SPRN SYCE1 FUOM ADGRA1 MTG1 CYP2E1 UTF1 SCART1 TUBGCP2 PAOX ECHS1 KNDC1 CALY ADGRA1-AS1 MIR3944 PRAP1 ZNF511 ADAM8 VENTX MIR202HG MIR202
nsv470980 Chr.10:133186655 - 133409514 on Build GRCh38 Loss FUOM MTG1 UTF1 TUBGCP2 PAOX ECHS1 KNDC1 CALY MIR3944 PRAP1 ZNF511 ADAM8 VENTX MIR202HG MIR202
nsv952707 Chr.10:133333097 - 133403896 on Build GRCh38 Deletion PAOX ECHS1 CALY FUOM MIR3944 MTG1 PRAP1
nsv428243 Chr.10:133245214 - 133767422 on Build GRCh38 Gain SPRNP1 FRG2B SPRN SYCE1 FUOM MTG1 CYP2E1 SCART1 TUBGCP2 PAOX ECHS1 CALY MIR3944 PRAP1 ZNF511 ADAM8 MIR202HG MIR202
nsv552644 Chr.10:133328068 - 133402966 on Build GRCh38 Loss PAOX ECHS1 CALY FUOM MIR3944 MTG1 PRAP1
dgv2e196 Chr.10:133189913 - 133450541 on Build GRCh38 Duplication SPRN FUOM MTG1 UTF1 TUBGCP2 PAOX ECHS1 KNDC1 CALY MIR3944 PRAP1 ZNF511 ADAM8 VENTX MIR202HG MIR202
esv3625043 Chr.10:133327691 - 133373131 on Build GRCh38 Gain ECHS1 CALY FUOM MIR3944 PRAP1
nsv1052904 Chr.10:133298340 - 133769367 on Build GRCh38 Gain SPRNP1 FRG2B SPRN SYCE1 FUOM MTG1 CYP2E1 SCART1 TUBGCP2 PAOX ECHS1 CALY MIR3944 PRAP1 ZNF511
nsv1037772 Chr.10:133263092 - 133403671 on Build GRCh38 Gain TUBGCP2 PAOX ECHS1 CALY FUOM MIR3944 MTG1 PRAP1 ZNF511 ADAM8
esv3625030 Chr.10:133200862 - 133379742 on Build GRCh38 Gain FUOM UTF1 TUBGCP2 PAOX ECHS1 KNDC1 CALY MIR3944 PRAP1 ZNF511 ADAM8 VENTX MIR202HG MIR202
nsv528260 Chr.10:132859348 - 133620799 on Build GRCh38 Loss LINC01168 LINC01167 SPRN SYCE1 ADGRA1 MTG1 PAOX ECHS1 LINC01166 MIR3944 PRAP1 ZNF511 VENTX MIR202 SPRNP1 FUOM CYP2E1 UTF1 SCART1 TUBGCP2 CFAP46 KNDC1 CALY ADGRA1-AS1 ADAM8 MIR202HG
esv2750853 Chr.10:133266358 - 133621047 on Build GRCh38 Gain SPRNP1 SPRN SYCE1 FUOM MTG1 CYP2E1 SCART1 TUBGCP2 PAOX ECHS1 CALY MIR3944 PRAP1 ZNF511 ADAM8
nsv527785 Chr.10:133344451 - 133402966 on Build GRCh38 Loss PAOX ECHS1 FUOM MIR3944 MTG1 PRAP1
nsv832036 Chr.10:133089509 - 133368232 on Build GRCh38 Loss FUOM ADGRA1 UTF1 TUBGCP2 ECHS1 KNDC1 CALY PRAP1 ZNF511 ADAM8 VENTX MIR202HG MIR202
dgv3e196 Chr.10:133266297 - 133450541 on Build GRCh38 Duplication TUBGCP2 PAOX ECHS1 SPRN CALY FUOM MIR3944 MTG1 PRAP1 ZNF511 ADAM8
nsv832040 Chr.10:133301560 - 133412641 on Build GRCh38 Loss TUBGCP2 PAOX ECHS1 CALY FUOM MIR3944 MTG1 PRAP1 ZNF511
nsv552589 Chr.10:133257500 - 133563944 on Build GRCh38 Gain SPRN SYCE1 FUOM MTG1 CYP2E1 SCART1 TUBGCP2 PAOX ECHS1 CALY MIR3944 PRAP1 ZNF511 ADAM8

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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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