Assay Details
Target Gene Details
Entrez Gene ID: | 124944 |
Gene Name: | chromosome 17 open reading frame 49 |
Gene Aliases: |
BAP18, HEPIS |
Location: |
Chr.17:7014737-7017524 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C17orf49 | NM_001142798.2 | NP_001136270.1 | ||
NM_001142799.2 | NP_001136271.1 | |||
NM_174893.3 | NP_777553.1 | |||
AK055800.1 | ||||
AK295795.1 | ||||
BC040036.1 | AAH40036.1 | |||
BM011108.1 | ||||
BU596784.1 | ||||
CB119197.1 | ||||
CN280697.1 |
Target Gene Details
Entrez Gene ID: | 100529209 |
Gene Name: | RNASEK-C17orf49 readthrough |
Gene Aliases: |
- |
Location: |
Chr.17:7012417-7017524 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 3 - Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RNASEK-C17orf49 | NR_037717.1 | |||
BC040148.1 | AAH40148.1 |
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 | TNFSF12-TNFSF13 PLSCR3 YBX2 ALOX12-AS1 ACAP1 C17orf49 SLC16A11 TNFSF13 SAT2 MPDU1 TMEM256-PLSCR3 TNFSF12 CD68 TMEM95 GPS2 EIF5A SLC2A4 KCTD11 RNASEK-C17orf49 POLR2A DLG4 ASGR2 LOC107983988 ALOX12P2 MIR497HG SHBG MIR195 NLGN2 SNORD10 SLC16A13 SNORA48 MIR497 NEURL4 SLC35G6 SPEM1 TNK1 ATP1B2 ELP5 CLDN7 C17orf74 DVL2 FBXO39 TMEM256 LOC100996842 RNASEK ZBTB4 MIR324 GABARAP TMEM102 ASGR1 FGF11 CHRNB1 ACADVL PHF23 FXR2 TEKT1 BCL6B EIF4A1 SNORA67 CLEC10A CTDNEP1 SOX15 ALOX12 SENP3-EIF4A1 SENP3 |
nsv952117 | Chr.17:7014482 - 7028381 on Build GRCh38 | Deletion | MIR497HG MIR195 RNASEK-C17orf49 BCL6B C17orf49 RNASEK MIR497 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | TNFSF12-TNFSF13 PLSCR3 YBX2 ALOX12-AS1 ACAP1 C17orf49 SLC16A11 TNFSF13 SAT2 MPDU1 TMEM256-PLSCR3 TNFSF12 CD68 TMEM95 GPS2 EIF5A SLC2A4 KCTD11 RNASEK-C17orf49 POLR2A DLG4 ASGR2 LOC107983988 MIR497HG SHBG MIR195 NLGN2 SNORD10 SLC16A13 SNORA48 MIR497 NEURL4 SLC35G6 SPEM1 TNK1 ATP1B2 ELP5 CLDN7 C17orf74 DVL2 TMEM256 LOC100996842 RNASEK ZBTB4 MIR324 GABARAP TMEM102 ASGR1 FGF11 CHRNB1 ACADVL TP53 PHF23 WRAP53 FXR2 BCL6B EIF4A1 SNORA67 CLEC10A CTDNEP1 SOX15 ALOX12 SENP3-EIF4A1 SENP3 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |