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 3 - Intron 3 |
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 | 940 | ||
AK295795.1 | ||||
BC040036.1 | AAH40036.1 | |||
BM011108.1 | ||||
BU596784.1 | ||||
BU730728.1 | ||||
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: | Overlaps - Exon 3 |
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 5 - Intron 5 |
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 | DVL2 ACADVL ALOX12-AS1 SLC16A13 LOC107983988 GABARAP FGF11 CHRNB1 TNFSF12 LOC100996842 SHBG TMEM95 SNORA48 RNASEK NEURL4 ALOX12 ASGR1 C17orf74 TMEM256-PLSCR3 SLC2A4 TMEM102 ASGR2 MIR497 BCL6B SOX15 C17orf49 TNFSF13 RNASEK-C17orf49 ACAP1 SNORA67 SAT2 FBXO39 KCTD11 PHF23 POLR2A EIF5A SPEM1 SENP3 YBX2 ATP1B2 TNFSF12-TNFSF13 CTDNEP1 MIR497HG SLC35G6 NLGN2 ELP5 EIF4A1 PLSCR3 CLEC10A ALOX12P2 TNK1 SNORD10 SENP3-EIF4A1 TMEM256 ZBTB4 SLC16A11 CLDN7 DLG4 CD68 TEKT1 GPS2 MPDU1 MIR195 MIR324 FXR2 |
nsv952117 | Chr.17:7014482 - 7028381 on Build GRCh38 | Deletion | MIR497HG MIR497 BCL6B RNASEK C17orf49 RNASEK-C17orf49 MIR195 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | DVL2 ACADVL ALOX12-AS1 TP53 SLC16A13 LOC107983988 GABARAP FGF11 CHRNB1 TNFSF12 LOC100996842 SHBG TMEM95 SNORA48 RNASEK NEURL4 WRAP53 ALOX12 ASGR1 C17orf74 TMEM256-PLSCR3 SLC2A4 TMEM102 ASGR2 MIR497 BCL6B SOX15 C17orf49 TNFSF13 RNASEK-C17orf49 ACAP1 SNORA67 SAT2 KCTD11 PHF23 POLR2A EIF5A SPEM1 SENP3 YBX2 ATP1B2 TNFSF12-TNFSF13 CTDNEP1 MIR497HG SLC35G6 NLGN2 ELP5 EIF4A1 PLSCR3 CLEC10A TNK1 SNORD10 SENP3-EIF4A1 TMEM256 ZBTB4 SLC16A11 CLDN7 DLG4 CD68 GPS2 MPDU1 MIR195 MIR324 FXR2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |