Assay Details
Target Gene Details
Entrez Gene ID: | 10908 |
Gene Name: | patatin like phospholipase domain containing 6 |
Gene Aliases: |
BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws |
Location: |
Chr.19:7534152-7561767 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 4 - Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPLA6 | NM_001166111.1 | NP_001159583.1 | ||
NM_001166112.1 | NP_001159584.1 | |||
NM_001166113.1 | NP_001159585.1 | |||
NM_006702.4 | NP_006693.3 | |||
AJ004832.1 | CAA06164.1 | |||
AK293807.1 | ||||
AK294021.1 | ||||
AK302462.1 | ||||
BC050553.1 | AAH50553.1 | |||
BC051768.1 | AAH51768.1 | |||
DA247219.1 | ||||
DB068563.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1060887 | Chr.19:7089546 - 7861087 on Build GRCh38 | Gain | CLEC4G CLEC4GP1 PEX11G PNPLA6 STXBP2 TRAPPC5 FCER2 CAMSAP3 EVI5L MIR6792 RETN CD209 CLEC4M LOC100128573 PCP2 PET100 MCOLN1 ARHGEF18 INSR LOC107985283 MCEMP1 ZNF358 C19orf45 XAB2 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | PCP2 PET100 MCOLN1 PNPLA6 CAMSAP3 MIR6792 ZNF358 XAB2 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | CLEC4G PNPLA6 MBD3L5 TRAPPC5 LOC729458 CLEC4M LOC100128573 PCP2 PET100 MBD3L3 ADGRE1 CLEC4GP1 PEX11G STXBP2 FCER2 CAMSAP3 MIR6792 RETN CD209 MBD3L4 MCOLN1 ZNF557 ARHGEF18 INSR ADGRE4P FLJ25758 LOC107985283 MCEMP1 ZNF358 MBD3L2 C19orf45 XAB2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |