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: | Overlaps Intron 2 - Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DLG4 | NM_001321074.1 | NP_001308003.1 | ||
NM_001365.4 | NP_001356.1 | |||
NR_135527.1 | ||||
XM_011523698.1 | XP_011522000.1 | |||
XM_011523699.2 | XP_011522001.1 | |||
AK296357.1 | ||||
AK316096.1 | ||||
BC136553.1 | ||||
U83192.1 | 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 DVL2 ACADVL MIR324 |
esv2422288 | Chr.17:6789933 - 7646709 on Build GRCh38 | Deletion | SPEM1 CLDN7 ALOX12 SENP3 EIF5A SENP3-EIF4A1 SLC2A4 YBX2 ALOX12P2 ASGR1 BCL6B GPS2 C17orf49 ZBTB4 TEKT1 NLGN2 FGF11 SHBG SNORA48 TMEM102 MIR497HG FBXO39 LOC107983988 GABARAP ATP1B2 SAT2 DVL2 TNK1 SOX15 SLC35G6 SNORD10 MIR195 SLC16A11 FXR2 CD68 CTDNEP1 MPDU1 CHRNB1 MIR324 TNFSF12-TNFSF13 KCTD11 TNFSF13 ELP5 C17orf74 ACADVL EIF4A1 PHF23 TNFSF12 POLR2A SNORA67 TMEM95 TMEM256-PLSCR3 DLG4 TMEM256 SLC16A13 ACAP1 LOC100996842 MIR497 NEURL4 ALOX12-AS1 ASGR2 RNASEK-C17orf49 RNASEK CLEC10A PLSCR3 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | PHF23 CLDN7 ELP5 DLG4 CTDNEP1 GABARAP DVL2 ACADVL MIR324 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | SPEM1 CLDN7 CTDNEP1 CHRNB1 EIF5A MIR324 SLC2A4 KCTD11 YBX2 ELP5 ASGR1 C17orf74 GPS2 ACADVL PHF23 NLGN2 FGF11 TMEM102 TMEM95 TMEM256-PLSCR3 DLG4 TMEM256 LOC107983988 GABARAP ACAP1 DVL2 TNK1 NEURL4 PLSCR3 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | PHF23 CLDN7 DLG4 CTDNEP1 GABARAP EIF5A DVL2 MIR324 SLC2A4 NEURL4 ASGR2 YBX2 ELP5 ASGR1 GPS2 ACADVL |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SPEM1 CLDN7 ALOX12 WRAP53 SENP3 EIF5A SENP3-EIF4A1 SLC2A4 YBX2 ASGR1 BCL6B GPS2 C17orf49 ZBTB4 NLGN2 FGF11 SHBG SNORA48 TMEM102 MIR497HG LOC107983988 GABARAP ATP1B2 SAT2 DVL2 TNK1 SOX15 SLC35G6 SNORD10 MIR195 SLC16A11 FXR2 CD68 CTDNEP1 MPDU1 CHRNB1 MIR324 TNFSF12-TNFSF13 TP53 KCTD11 TNFSF13 ELP5 C17orf74 ACADVL EIF4A1 PHF23 TNFSF12 POLR2A SNORA67 TMEM95 TMEM256-PLSCR3 DLG4 TMEM256 SLC16A13 ACAP1 LOC100996842 MIR497 NEURL4 ALOX12-AS1 ASGR2 RNASEK-C17orf49 RNASEK CLEC10A PLSCR3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |