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 Intron 3 - Exon 4 |
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 | 2 | 1579 | ||
AK295795.1 | ||||
BC040036.1 | AAH40036.1 | |||
BM011108.1 | ||||
BU596784.1 | ||||
BU730728.1 | ||||
CA449884.1 | ||||
CB119197.1 | ||||
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 Intron 5 - Exon 6 |
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 | SENP3-EIF4A1 MPDU1 ALOX12 SNORA48 TEKT1 PLSCR3 CLEC10A SAT2 POLR2A PHF23 ELP5 RNASEK-C17orf49 EIF5A TMEM95 TNFSF12 SPEM1 TMEM256 TNFSF13 SLC2A4 BCL6B ALOX12P2 FBXO39 C17orf49 TMEM256-PLSCR3 CTDNEP1 ACAP1 CHRNB1 CLDN7 C17orf74 ZBTB4 SLC35G6 MIR195 CD68 SNORD10 NEURL4 MIR324 MIR497 SENP3 ALOX12-AS1 SOX15 GPS2 MIR497HG ASGR2 FGF11 YBX2 KCTD11 ATP1B2 SLC16A11 SNORA67 SHBG DLG4 ASGR1 SLC16A13 LOC107983988 GABARAP NLGN2 TNK1 ACADVL LOC100996842 DVL2 EIF4A1 RNASEK TNFSF12-TNFSF13 TMEM102 FXR2 |
nsv952117 | Chr.17:7014482 - 7028381 on Build GRCh38 | Deletion | MIR497 BCL6B RNASEK-C17orf49 MIR497HG C17orf49 MIR195 RNASEK |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SENP3-EIF4A1 MPDU1 ALOX12 SNORA48 PLSCR3 CLEC10A SAT2 POLR2A PHF23 ELP5 RNASEK-C17orf49 EIF5A TMEM95 TNFSF12 SPEM1 TMEM256 TNFSF13 SLC2A4 BCL6B C17orf49 TMEM256-PLSCR3 CTDNEP1 ACAP1 CHRNB1 TP53 CLDN7 C17orf74 ZBTB4 SLC35G6 MIR195 CD68 SNORD10 NEURL4 MIR324 MIR497 SENP3 ALOX12-AS1 SOX15 GPS2 MIR497HG ASGR2 FGF11 YBX2 KCTD11 WRAP53 ATP1B2 SLC16A11 SNORA67 SHBG DLG4 ASGR1 SLC16A13 LOC107983988 GABARAP NLGN2 TNK1 ACADVL LOC100996842 DVL2 EIF4A1 RNASEK TNFSF12-TNFSF13 TMEM102 FXR2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |