Assay Details
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 23 - Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DLG4 | NM_001128827.2 | NP_001122299.1 | ||
NM_001321074.1 | NP_001308003.1 | |||
NM_001321075.1 | NP_001308004.1 | |||
NM_001321076.1 | NP_001308005.1 | |||
NM_001321077.1 | NP_001308006.1 | |||
NM_001365.4 | NP_001356.1 | |||
NR_135527.1 | ||||
XM_005256491.1 | XP_005256548.1 | |||
XM_011523698.1 | XP_011522000.1 | |||
XM_011523699.2 | XP_011522001.1 | |||
XM_011523702.1 | XP_011522004.1 | |||
XM_017024288.1 | XP_016879777.1 | |||
XM_017024289.1 | XP_016879778.1 | |||
XM_017024290.1 | XP_016879779.1 | |||
AK293835.1 | ||||
AK296357.1 | ||||
AK297346.1 | ||||
AK299801.1 | ||||
AK308533.1 | ||||
AK316096.1 | ||||
BC040533.1 | AAH40533.1 | |||
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 |
---|---|---|---|
esv2422288 | Chr.17:6789933 - 7646709 on Build GRCh38 | Deletion | CTDNEP1 SNORA67 C17orf49 MIR324 C17orf74 YBX2 CHRNB1 SLC35G6 FGF11 TNFSF13 TNFSF12-TNFSF13 SENP3-EIF4A1 ASGR1 MIR195 TMEM256-PLSCR3 SENP3 SAT2 TNK1 ELP5 RNASEK CLDN7 SLC16A11 POLR2A ALOX12P2 ALOX12-AS1 SLC2A4 SLC16A13 KCTD11 MIR497 SNORD10 CD68 NEURL4 EIF5A ASGR2 ZBTB4 BCL6B TNFSF12 MIR497HG ACAP1 LOC107983988 RNASEK-C17orf49 TMEM95 DLG4 FXR2 TMEM102 FBXO39 LOC100996842 PLSCR3 CLEC10A SHBG SOX15 SNORA48 GABARAP ATP1B2 ALOX12 NLGN2 EIF4A1 GPS2 PHF23 SPEM1 ACADVL MPDU1 DVL2 TMEM256 TEKT1 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | CTDNEP1 NEURL4 EIF5A MIR324 C17orf74 YBX2 ACAP1 CHRNB1 LOC107983988 TMEM95 FGF11 DLG4 TMEM102 PLSCR3 ASGR1 GABARAP TMEM256-PLSCR3 NLGN2 GPS2 PHF23 TNK1 ELP5 CLDN7 SPEM1 SLC2A4 ACADVL KCTD11 DVL2 TMEM256 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | CTDNEP1 NEURL4 EIF5A ASGR2 ASGR1 GABARAP GPS2 MIR324 PHF23 YBX2 ELP5 CLDN7 SLC2A4 DLG4 ACADVL DVL2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | CTDNEP1 SNORA67 C17orf49 TP53 MIR324 C17orf74 YBX2 CHRNB1 SLC35G6 FGF11 TNFSF13 TNFSF12-TNFSF13 SENP3-EIF4A1 ASGR1 MIR195 TMEM256-PLSCR3 WRAP53 SENP3 SAT2 TNK1 ELP5 RNASEK CLDN7 SLC16A11 POLR2A ALOX12-AS1 SLC2A4 SLC16A13 KCTD11 MIR497 SNORD10 CD68 NEURL4 EIF5A ASGR2 ZBTB4 BCL6B TNFSF12 MIR497HG ACAP1 LOC107983988 RNASEK-C17orf49 TMEM95 DLG4 FXR2 TMEM102 LOC100996842 PLSCR3 CLEC10A SHBG SOX15 SNORA48 GABARAP ATP1B2 ALOX12 NLGN2 EIF4A1 GPS2 PHF23 SPEM1 ACADVL MPDU1 DVL2 TMEM256 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |