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 9 - Intron 9 |
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 | 5 | 768 | ||
AK297916.1 | ||||
AK309274.1 | 7 | 977 | ||
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 20 - Intron 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SENP3-EIF4A1 | NR_037926.1 |
Target Gene Details
Entrez Gene ID: | 26781 |
Gene Name: | small nucleolar RNA, H/ACA box 67 |
Gene Aliases: |
RNU67, U67 |
Location: |
Chr.17:7577955-7578091 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SNORA67 | NR_002912.1 | |||
Y11161.1 |
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 | TMEM256-PLSCR3 C17orf49 RNASEK BCL6B ALOX12-AS1 TNFSF12 SPEM1 ASGR1 C17orf74 SAT2 SLC16A13 SLC16A11 GABARAP FGF11 TNFSF13 SLC2A4 NLGN2 NEURL4 FXR2 CHRNB1 MIR324 EIF5A RNASEK-C17orf49 ELP5 MIR195 GPS2 SOX15 LOC100996842 SENP3 PHF23 LOC107983988 MIR497 MIR497HG ACADVL SNORD10 TNFSF12-TNFSF13 YBX2 POLR2A ATP1B2 SNORA48 ACAP1 DVL2 SENP3-EIF4A1 FBXO39 TEKT1 CTDNEP1 CD68 EIF4A1 ASGR2 ALOX12 ZBTB4 SLC35G6 MPDU1 DLG4 CLDN7 TMEM102 KCTD11 ALOX12P2 SNORA67 CLEC10A TNK1 TMEM95 TMEM256 PLSCR3 SHBG |
nsv960401 | Chr.17:7577078 - 7578770 on Build GRCh38 | Duplication | EIF4A1 SENP3-EIF4A1 SNORA67 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | TMEM256-PLSCR3 C17orf49 RNASEK BCL6B ALOX12-AS1 TNFSF12 SPEM1 ASGR1 C17orf74 SAT2 SLC16A13 SLC16A11 GABARAP FGF11 TNFSF13 SLC2A4 NLGN2 NEURL4 FXR2 CHRNB1 MIR324 EIF5A RNASEK-C17orf49 ELP5 MIR195 GPS2 SOX15 LOC100996842 SENP3 PHF23 LOC107983988 MIR497 MIR497HG ACADVL SNORD10 TNFSF12-TNFSF13 YBX2 POLR2A ATP1B2 SNORA48 ACAP1 DVL2 SENP3-EIF4A1 TP53 CTDNEP1 CD68 EIF4A1 ASGR2 ALOX12 ZBTB4 WRAP53 SLC35G6 MPDU1 DLG4 CLDN7 TMEM102 KCTD11 SNORA67 CLEC10A TNK1 TMEM95 TMEM256 PLSCR3 SHBG |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |