Assay Details
Target Gene Details
Entrez Gene ID: | 37 |
Gene Name: | acyl-CoA dehydrogenase, very long chain |
Gene Aliases: |
ACAD6, LCACD, VLCAD |
Location: |
Chr.17:7217125-7225267 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACADVL | NM_001270447.1 | NP_001257376.1 | ||
AK293549.1 |
Target Gene Details
Entrez Gene ID: | 1742 |
Gene Name: | discs large MAGUK scaffold protein 4 |
Gene Aliases: |
PSD95, SAP-90, SAP90 |
Location: |
Chr.17:7189890-7220050 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DLG4 | NM_001321074.1 | 1 | 1156 | NP_001308003.1 |
NM_001365.4 | 1 | 1156 | NP_001356.1 | |
NR_135527.1 | 1 | 1156 | ||
XM_011523698.1 | 1 | 954 | XP_011522000.1 | |
XM_011523699.2 | XP_011522001.1 | |||
AK296357.1 | 1 | 844 | ||
BC136553.1 | 1 | 689 | ||
U83192.1 | 1 | 816 | AAC52113.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1962 | Chr.17:7201180 - 7234067 on Build GRCh38 | Insertion | DLG4 MIR324 DVL2 ACADVL |
esv2422288 | Chr.17:6789933 - 7646709 on Build GRCh38 | Deletion | SLC35G6 CLDN7 FBXO39 KCTD11 GABARAP EIF5A SNORA48 CD68 MIR497 SLC2A4 SNORD10 TEKT1 C17orf74 TNFSF12 NLGN2 ACAP1 SLC16A11 ATP1B2 CHRNB1 SENP3 ASGR1 TNFSF12-TNFSF13 PHF23 ZBTB4 SOX15 DVL2 MIR497HG SENP3-EIF4A1 MPDU1 POLR2A SPEM1 FGF11 SLC16A13 MIR324 RNASEK-C17orf49 ALOX12-AS1 YBX2 CTDNEP1 ALOX12 SAT2 BCL6B SNORA67 C17orf49 MIR195 PLSCR3 FXR2 SHBG DLG4 ALOX12P2 LOC100996842 TMEM102 RNASEK CLEC10A NEURL4 LOC107983988 ASGR2 ELP5 TNK1 GPS2 TNFSF13 TMEM95 ACADVL TMEM256-PLSCR3 EIF4A1 TMEM256 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | ELP5 DLG4 CLDN7 MIR324 DVL2 GABARAP ACADVL CTDNEP1 PHF23 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | CLDN7 MIR324 KCTD11 YBX2 GABARAP EIF5A CTDNEP1 SLC2A4 C17orf74 PLSCR3 NLGN2 ACAP1 DLG4 CHRNB1 ASGR1 TMEM102 NEURL4 LOC107983988 PHF23 ELP5 TNK1 GPS2 DVL2 TMEM95 ACADVL TMEM256-PLSCR3 SPEM1 TMEM256 FGF11 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | DLG4 CLDN7 MIR324 YBX2 ASGR1 GABARAP EIF5A CTDNEP1 NEURL4 PHF23 ASGR2 ELP5 GPS2 SLC2A4 DVL2 ACADVL |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SLC35G6 CLDN7 KCTD11 GABARAP EIF5A TP53 SNORA48 CD68 MIR497 SLC2A4 SNORD10 C17orf74 TNFSF12 NLGN2 ACAP1 SLC16A11 ATP1B2 CHRNB1 SENP3 ASGR1 TNFSF12-TNFSF13 PHF23 ZBTB4 SOX15 DVL2 MIR497HG SENP3-EIF4A1 MPDU1 POLR2A SPEM1 FGF11 SLC16A13 MIR324 RNASEK-C17orf49 ALOX12-AS1 YBX2 CTDNEP1 ALOX12 SAT2 BCL6B SNORA67 C17orf49 MIR195 PLSCR3 FXR2 SHBG DLG4 WRAP53 LOC100996842 TMEM102 RNASEK CLEC10A NEURL4 LOC107983988 ASGR2 ELP5 TNK1 GPS2 TNFSF13 TMEM95 ACADVL TMEM256-PLSCR3 EIF4A1 TMEM256 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |