Assay Details
Target Gene Details
Entrez Gene ID: | 57099 |
Gene Name: | apoptosis and caspase activation inhibitor |
Gene Aliases: |
PDCD12 |
Location: |
Chr.15:33858602-34074877 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AVEN | NM_020371.2 | NP_065104.1 | ||
XM_011521818.2 | XP_011520120.1 | |||
XM_011521819.2 | XP_011520121.1 | |||
XM_011521820.1 | XP_011520122.1 | |||
AF283508.1 | AAF91470.1 | |||
BC010488.1 | AAH10488.1 | |||
BC063533.1 | AAH63533.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv437798 | Chr.15:33883135 - 33885515 on Build GRCh38 | Loss | AVEN |
nsv471235 | Chr.15:33743328 - 34129750 on Build GRCh38 | Gain | EMC7 RYR3 PGBD4 CHRM5 AVEN |
esv3636092 | Chr.15:33878005 - 33890938 on Build GRCh38 | Gain | AVEN |
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | GOLGA8A LOC105370757 MIR1233-2 RYR3 PGBD4 NUTM1 CHRM5 GOLGA8B FMN1 EMC4 LOC101928042 TMCO5B MIR1233-1 LOC101928134 LOC100131315 NOP10 SCG5 ARHGAP11A EMC7 GREM1 KATNBL1 LPCAT4 AVEN SLC12A6 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | GOLGA8A LOC105370757 MIR1233-2 WHAMMP1 RYR3 CHRM5 FMN1 LOC105370940 LOC101928042 GOLGA8K LOC101928134 NOP10 SCG5 LOC101060588 ARHGAP11A EMC7 GOLGA8N GREM1 AVEN SLC12A6 GOLGA8O ULK4P1 LOC100653133 PGBD4 NUTM1 GOLGA8B EMC4 LOC100996255 TMCO5B MIR1233-1 LOC100131315 KATNBL1 LPCAT4 CHRNA7 |
nsv568921 | Chr.15:33754434 - 33955421 on Build GRCh38 | Gain | RYR3 AVEN |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | GOLGA8A MIR1233-2 AQR RYR3 PGBD4 GJD2 NUTM1 CHRM5 GOLGA8B EMC4 MIR1233-1 NOP10 LOC101928174 ZNF770 EMC7 KATNBL1 LPCAT4 ACTC1 AVEN SLC12A6 |
nsv1044844 | Chr.15:33773323 - 34004628 on Build GRCh38 | Loss | RYR3 CHRM5 AVEN |
nsv568920 | Chr.15:33742220 - 34134417 on Build GRCh38 | Gain | EMC7 RYR3 PGBD4 CHRM5 AVEN |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | GOLGA8A LOC105370757 MIR1233-2 RYR3 CHRM5 FMN1 LOC101928042 LOC101928134 NOP10 SCG5 ARHGAP11A EMC7 GOLGA8N GREM1 AVEN SLC12A6 PGBD4 NUTM1 GOLGA8B EMC4 TMCO5B MIR1233-1 LOC100131315 KATNBL1 LPCAT4 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |