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: | Overlaps Intron 21 - Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBTPS1 | NM_003791.3 | NP_003782.1 | ||
XM_017023816.1 | XP_016879305.1 | |||
XM_017023817.1 | XP_016879306.1 | |||
AK054744.1 | 1 | 954 | ||
AK091212.1 | ||||
AK291773.1 | ||||
AK299067.1 | ||||
AL133583.1 | CAB63727.1 | |||
BC114555.1 | AAI14556.1 | |||
BC114961.1 | AAI14962.1 | |||
BM048055.1 | ||||
D42053.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3639410 | Chr.16:84055831 - 84075312 on Build GRCh38 | Loss | MBTPS1 |
esv3892924 | Chr.16:84014717 - 84091665 on Build GRCh38 | Gain | MBTPS1 SLC38A8 |
nsv1065790 | Chr.16:83830329 - 84243597 on Build GRCh38 | Loss | DNAAF1 MBTPS1 ADAD2 TAF1C SLC38A8 KCNG4 OSGIN1 LOC729887 LOC105371371 HSDL1 NECAB2 MLYCD |
esv2761930 | Chr.16:84007420 - 84312461 on Build GRCh38 | Gain | DNAAF1 WFDC1 MBTPS1 ADAD2 TAF1C SLC38A8 KCNG4 LOC729887 LOC105376777 HSDL1 |
esv3892927 | Chr.16:84058861 - 84081674 on Build GRCh38 | Gain | MBTPS1 |
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 | DNAAF1 MBTPS1 ADAD2 TAF1C SLC38A8 KCNG4 LOC729887 HSDL1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |