Assay Details
Target Gene Details
Entrez Gene ID: | 8720 |
Gene Name: | membrane bound transcription factor peptidase, site 1 |
Gene Aliases: |
PCSK8, S1P, SKI-1 |
Location: |
Chr.16:84053761-84116943 on Build GRCh38 |
Assay Gene Location: | Within Exon 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBTPS1 | NM_003791.3 | 23 | 3632 | NP_003782.1 |
XM_017023816.1 | 22 | 3381 | XP_016879305.1 | |
XM_017023817.1 | 24 | 3635 | XP_016879306.1 | |
AK054744.1 | 3 | 2598 | ||
AK091212.1 | 12 | 2342 | ||
AK291773.1 | 23 | 3515 | ||
AK299067.1 | 22 | 2857 | ||
AL133583.1 | 8 | 897 | CAB63727.1 | |
BC114555.1 | 23 | 3518 | AAI14556.1 | |
BC114961.1 | 23 | 3518 | AAI14962.1 | |
BM048055.1 | 4 | 419 | ||
BM680126.1 | ||||
D42053.1 | 23 | 3595 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3892924 | Chr.16:84014717 - 84091665 on Build GRCh38 | Gain | MBTPS1 SLC38A8 |
nsv1065790 | Chr.16:83830329 - 84243597 on Build GRCh38 | Loss | LOC729887 HSDL1 LOC105371371 NECAB2 DNAAF1 MLYCD ADAD2 KCNG4 MBTPS1 SLC38A8 OSGIN1 TAF1C |
esv2761930 | Chr.16:84007420 - 84312461 on Build GRCh38 | Gain | LOC729887 LOC105376777 HSDL1 DNAAF1 WFDC1 ADAD2 KCNG4 MBTPS1 SLC38A8 TAF1C |
nsv1909 | Chr.16:84031468 - 84076703 on Build GRCh38 | Deletion | MBTPS1 SLC38A8 |
dgv546e214 | Chr.16:84011032 - 84095132 on Build GRCh38 | Gain | MBTPS1 SLC38A8 |
nsv457595 | Chr.16:84013110 - 84091665 on Build GRCh38 | Gain | MBTPS1 SLC38A8 |
nsv952061 | Chr.16:84049196 - 84062895 on Build GRCh38 | Deletion | MBTPS1 |
nsv1059227 | Chr.16:84029323 - 84233403 on Build GRCh38 | Loss | LOC729887 HSDL1 DNAAF1 ADAD2 KCNG4 MBTPS1 SLC38A8 TAF1C |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |