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 5 - Intron 5 |
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 | |||
AI183273.1 | ||||
AK055800.1 | ||||
AK295795.1 | ||||
BC040036.1 | AAH40036.1 | |||
BM011108.1 | ||||
BU596784.1 | ||||
BU730728.1 | ||||
CA449884.1 | ||||
CN280697.1 |
Target Gene Details
Entrez Gene ID: | 100506755 |
Gene Name: | mir-497-195 cluster host gene |
Gene Aliases: |
MIR195HG |
Location: |
Chr.17:7015818-7019654 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MIR497HG | NR_038310.1 |
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 7 - Intron 7 |
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 | EIF4A1 SLC2A4 SENP3-EIF4A1 TMEM102 TMEM95 LOC100996842 SNORD10 PHF23 SLC16A13 SENP3 CHRNB1 MIR324 ASGR1 FBXO39 ELP5 ZBTB4 SNORA67 MIR497HG MIR497 C17orf49 TNK1 C17orf74 ALOX12 TEKT1 KCTD11 ATP1B2 MPDU1 CLDN7 ACADVL TNFSF12 LOC107983988 CLEC10A SHBG TMEM256-PLSCR3 YBX2 GPS2 DVL2 NLGN2 PLSCR3 SLC35G6 RNASEK-C17orf49 TMEM256 MIR195 BCL6B RNASEK DLG4 SLC16A11 ALOX12-AS1 EIF5A FGF11 GABARAP ACAP1 NEURL4 ASGR2 ALOX12P2 CD68 SOX15 SAT2 FXR2 CTDNEP1 SPEM1 POLR2A SNORA48 TNFSF13 TNFSF12-TNFSF13 |
nsv952117 | Chr.17:7014482 - 7028381 on Build GRCh38 | Deletion | RNASEK-C17orf49 MIR195 BCL6B MIR497HG MIR497 C17orf49 RNASEK |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | EIF4A1 SLC2A4 SENP3-EIF4A1 TMEM102 TMEM95 LOC100996842 SNORD10 PHF23 SLC16A13 SENP3 CHRNB1 MIR324 ASGR1 ELP5 ZBTB4 SNORA67 MIR497HG MIR497 C17orf49 TNK1 C17orf74 ALOX12 KCTD11 ATP1B2 MPDU1 CLDN7 ACADVL TNFSF12 LOC107983988 CLEC10A SHBG TMEM256-PLSCR3 YBX2 GPS2 DVL2 NLGN2 PLSCR3 SLC35G6 TP53 RNASEK-C17orf49 TMEM256 MIR195 BCL6B RNASEK DLG4 SLC16A11 ALOX12-AS1 EIF5A FGF11 GABARAP ACAP1 NEURL4 ASGR2 WRAP53 CD68 SOX15 SAT2 FXR2 CTDNEP1 SPEM1 POLR2A SNORA48 TNFSF13 TNFSF12-TNFSF13 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |