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: | Within Intron 8 |
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_001166114.1 | NP_001159586.1 | |||
NM_006702.4 | NP_006693.3 | |||
AJ004832.1 | CAA06164.1 | |||
AK293807.1 | ||||
AK294021.1 | ||||
AK302462.1 | ||||
BC038229.1 | AAH38229.1 | |||
BC050553.1 | AAH50553.1 | |||
BC051768.1 | AAH51768.1 |
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 | TRAPPC5 XAB2 PNPLA6 INSR FCER2 MIR6792 ZNF358 ARHGEF18 CD209 PET100 PCP2 LOC107985283 STXBP2 CLEC4G PEX11G CAMSAP3 MCEMP1 EVI5L CLEC4GP1 MCOLN1 CLEC4M LOC100128573 C19orf45 RETN |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | CAMSAP3 XAB2 PNPLA6 MIR6792 MCOLN1 ZNF358 PET100 PCP2 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | MBD3L2 XAB2 MIR6792 ADGRE1 CD209 PET100 LOC107985283 CLEC4G MCEMP1 FLJ25758 MCOLN1 MBD3L4 ZNF557 TRAPPC5 PNPLA6 LOC729458 ADGRE4P INSR FCER2 ZNF358 ARHGEF18 PCP2 MBD3L5 STXBP2 PEX11G CAMSAP3 CLEC4GP1 CLEC4M LOC100128573 MBD3L3 C19orf45 RETN |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |