Assay Details
Target Gene Details
Entrez Gene ID: | 641371 |
Gene Name: | acyl-CoA thioesterase 1 |
Gene Aliases: |
ACH2, CTE-1, LACH2 |
Location: |
Chr.14:73493021-73543799 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACOT1 | XM_017021591.1 | XP_016877080.1 |
Target Gene Details
Entrez Gene ID: | 79697 |
Gene Name: | chromosome 14 open reading frame 169 |
Gene Aliases: |
MAPJD, NO66, ROX, URLC2, hsNO66 |
Location: |
Chr.14:73490934-73493401 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C14orf169 | NM_024644.4 | NP_078920.2 | ||
AB101204.1 | ||||
AK025455.1 | BAB15138.1 | |||
AK299994.1 | ||||
AY390535.1 | AAR27292.1 | |||
BC011350.1 | AAH11350.1 | |||
BC071954.1 | AAH71954.1 |
Target Gene Details
Entrez Gene ID: | 399671 |
Gene Name: | HEAT repeat containing 4 |
Gene Aliases: |
- |
Location: |
Chr.14:73478484-73634418 on Build GRCh38 |
Assay Gene Location: | Within Intron 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HEATR4 | NM_001220484.1 | NP_001207413.1 | ||
NM_203309.2 | NP_976054.2 | |||
XM_006720143.2 | XP_006720206.1 | |||
XM_011536760.2 | XP_011535062.1 | |||
XM_017021289.1 | XP_016876778.1 | |||
AK093515.1 | ||||
AK302564.1 | ||||
BC047590.1 | AAH47590.1 | |||
GU727638.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3892561 | Chr.14:73365865 - 73620531 on Build GRCh38 | Gain | C14orf169 NUMB LOC105370561 HEATR4 ACOT4 ACOT6 ACOT1 ACOT2 LOC101928143 |
nsv1035460 | Chr.14:72854572 - 73897173 on Build GRCh38 | Gain | ELMSAN1 ZFYVE1 NUMB PAPLN DNAL1 DPF3 PNMA1 PSEN1 HEATR4 MIR4505 ZNF410 LOC101928123 ACOT4 ACOT6 LOC101928143 DCAF4 LOC100506476 C14orf169 RBM25 LOC105370561 LOC100506498 ACOT1 ACOT2 PTGR2 |
nsv510643 | Chr.14:73483755 - 73582944 on Build GRCh38 | Deletion | C14orf169 HEATR4 ACOT1 ACOT2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |