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: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AVEN |
Target Gene Details
Entrez Gene ID: | 6263 |
Gene Name: | ryanodine receptor 3 |
Gene Aliases: |
RYR-3 |
Location: |
Chr.15:33310773-33866103 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 103 - Exon 104 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RYR3 | NM_001036.4 | NP_001027.3 | ||
NM_001243996.2 | NP_001230925.1 | |||
XM_011521880.2 | XP_011520182.1 | |||
XM_017022468.1 | XP_016877957.1 | |||
XM_017022469.1 | XP_016877958.1 | |||
XM_017022470.1 | XP_016877959.1 | |||
XM_017022471.1 | XP_016877960.1 | |||
XM_017022472.1 | XP_016877961.1 | |||
XM_017022473.1 | XP_016877962.1 | |||
XM_017022474.1 | XP_016877963.1 | |||
XM_017022475.1 | XP_016877964.1 | |||
XM_017022476.1 | XP_016877965.1 | |||
AB001025.1 | BAA23795.1 | |||
AJ001515.1 | CAA04798.1 | |||
X74269.1 | CAA52326.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv471235 | Chr.15:33743328 - 34129750 on Build GRCh38 | Gain | AVEN PGBD4 EMC7 RYR3 CHRM5 |
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | MIR1233-2 GOLGA8B EMC7 GOLGA8A LOC101928042 LOC105370757 GREM1 RYR3 LOC101928134 LPCAT4 EMC4 CHRM5 LOC100131315 FMN1 AVEN ARHGAP11A PGBD4 NOP10 SLC12A6 TMCO5B KATNBL1 NUTM1 MIR1233-1 SCG5 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | MIR1233-2 EMC7 GOLGA8A LOC101928042 LOC105370757 GREM1 RYR3 CHRM5 LOC100131315 FMN1 AVEN ARHGAP11A GOLGA8O PGBD4 LOC100996255 SLC12A6 NUTM1 MIR1233-1 SCG5 CHRNA7 GOLGA8B GOLGA8N GOLGA8K LOC105370940 LOC101928134 LPCAT4 EMC4 LOC101060588 ULK4P1 NOP10 TMCO5B KATNBL1 LOC100653133 WHAMMP1 |
nsv568921 | Chr.15:33754434 - 33955421 on Build GRCh38 | Gain | AVEN RYR3 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | MIR1233-2 GOLGA8B EMC7 GOLGA8A ACTC1 RYR3 LOC101928174 LPCAT4 EMC4 CHRM5 AVEN ZNF770 PGBD4 NOP10 SLC12A6 KATNBL1 NUTM1 MIR1233-1 AQR GJD2 |
nsv1044844 | Chr.15:33773323 - 34004628 on Build GRCh38 | Loss | AVEN RYR3 CHRM5 |
nsv568920 | Chr.15:33742220 - 34134417 on Build GRCh38 | Gain | AVEN PGBD4 EMC7 RYR3 CHRM5 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | MIR1233-2 EMC7 GOLGA8A LOC101928042 LOC105370757 GREM1 RYR3 CHRM5 LOC100131315 FMN1 AVEN ARHGAP11A PGBD4 SLC12A6 NUTM1 MIR1233-1 SCG5 GOLGA8B GOLGA8N LOC101928134 LPCAT4 EMC4 NOP10 TMCO5B KATNBL1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |