Assay Details
Target Gene Details
Entrez Gene ID: | 1973 |
Gene Name: | eukaryotic translation initiation factor 4A1 |
Gene Aliases: |
DDX2A, EIF-4A, EIF4A, eIF-4A-I, eIF4A-I |
Location: |
Chr.17:7572706-7579006 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 6 - Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EIF4A1 | NM_001204510.1 | NP_001191439.1 | ||
NM_001416.3 | NP_001407.1 | |||
AK130082.1 | ||||
AK289453.1 | ||||
AK291971.1 | ||||
AK296664.1 | ||||
AK297916.1 | ||||
AK303222.1 | ||||
AK309274.1 | ||||
AK312630.1 | ||||
BC009585.1 | AAH09585.1 | |||
BC073752.1 | AAH73752.1 | |||
BT019880.1 | AAV38683.1 | |||
BT019881.1 | AAV38684.1 | |||
D13748.1 | BAA02897.1 |
Target Gene Details
Entrez Gene ID: | 100533955 |
Gene Name: | SENP3-EIF4A1 readthrough (NMD candidate) |
Gene Aliases: |
- |
Location: |
Chr.17:7561992-7579006 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 17 - Intron 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SENP3-EIF4A1 | NR_037926.1 |
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 | ZBTB4 SENP3 CHRNB1 YBX2 SLC16A13 ALOX12 TMEM95 ELP5 SHBG CD68 ASGR2 DLG4 C17orf49 ACADVL MIR195 C17orf74 KCTD11 TEKT1 SNORA67 SNORA48 SOX15 TNK1 TMEM256-PLSCR3 SNORD10 RNASEK FBXO39 FXR2 TMEM102 ALOX12P2 EIF5A PHF23 GPS2 TNFSF12 LOC100996842 MIR497 SENP3-EIF4A1 EIF4A1 TMEM256 CTDNEP1 CLEC10A ACAP1 ATP1B2 MIR324 DVL2 SLC35G6 SAT2 ASGR1 SLC16A11 MPDU1 FGF11 TNFSF12-TNFSF13 CLDN7 LOC107983988 RNASEK-C17orf49 POLR2A NEURL4 NLGN2 TNFSF13 PLSCR3 SLC2A4 GABARAP ALOX12-AS1 BCL6B MIR497HG SPEM1 |
nsv960401 | Chr.17:7577078 - 7578770 on Build GRCh38 | Duplication | SNORA67 SENP3-EIF4A1 EIF4A1 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | ZBTB4 SENP3 TP53 CHRNB1 YBX2 SLC16A13 ALOX12 TMEM95 ELP5 SHBG CD68 ASGR2 DLG4 WRAP53 C17orf49 ACADVL MIR195 C17orf74 KCTD11 SNORA67 SNORA48 SOX15 TNK1 TMEM256-PLSCR3 SNORD10 RNASEK FXR2 TMEM102 EIF5A PHF23 GPS2 TNFSF12 LOC100996842 MIR497 SENP3-EIF4A1 EIF4A1 TMEM256 CTDNEP1 CLEC10A ACAP1 ATP1B2 MIR324 DVL2 SLC35G6 SAT2 ASGR1 SLC16A11 MPDU1 FGF11 TNFSF12-TNFSF13 CLDN7 LOC107983988 RNASEK-C17orf49 POLR2A NEURL4 NLGN2 TNFSF13 PLSCR3 SLC2A4 GABARAP ALOX12-AS1 BCL6B MIR497HG SPEM1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |