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 6 |
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 | ||||
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 1 |
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 8 |
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 | ASGR2 LOC107983988 SLC16A13 ELP5 MIR195 PHF23 FXR2 ALOX12P2 SPEM1 SENP3-EIF4A1 NEURL4 ZBTB4 PLSCR3 SENP3 EIF5A SNORD10 CHRNB1 ALOX12 KCTD11 ACADVL GPS2 SLC35G6 TNFSF12-TNFSF13 SNORA67 SHBG SAT2 ASGR1 C17orf74 C17orf49 MIR497 SLC2A4 CLDN7 RNASEK-C17orf49 FBXO39 CD68 LOC100996842 TNFSF13 ATP1B2 GABARAP TNFSF12 BCL6B TMEM95 CTDNEP1 TMEM256 TEKT1 NLGN2 TMEM102 RNASEK MIR324 SNORA48 MIR497HG CLEC10A EIF4A1 ACAP1 MPDU1 POLR2A SLC16A11 TMEM256-PLSCR3 DVL2 DLG4 ALOX12-AS1 TNK1 YBX2 FGF11 SOX15 |
nsv952117 | Chr.17:7014482 - 7028381 on Build GRCh38 | Deletion | BCL6B RNASEK C17orf49 MIR195 MIR497 MIR497HG RNASEK-C17orf49 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | ASGR2 LOC107983988 SLC16A13 ELP5 MIR195 PHF23 TP53 FXR2 SPEM1 SENP3-EIF4A1 NEURL4 ZBTB4 PLSCR3 SENP3 EIF5A SNORD10 CHRNB1 ALOX12 KCTD11 ACADVL GPS2 SLC35G6 TNFSF12-TNFSF13 SNORA67 SHBG SAT2 ASGR1 C17orf74 C17orf49 MIR497 SLC2A4 CLDN7 RNASEK-C17orf49 CD68 LOC100996842 TNFSF13 ATP1B2 GABARAP TNFSF12 BCL6B TMEM95 CTDNEP1 TMEM256 NLGN2 TMEM102 WRAP53 RNASEK MIR324 SNORA48 MIR497HG CLEC10A EIF4A1 ACAP1 MPDU1 POLR2A SLC16A11 TMEM256-PLSCR3 DVL2 DLG4 ALOX12-AS1 TNK1 YBX2 FGF11 SOX15 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |