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 Exon 20 - Intron 20 |
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 | LOC100128573 CLEC4M MCOLN1 INSR XAB2 ARHGEF18 FCER2 CLEC4GP1 CAMSAP3 CLEC4G MIR6792 C19orf45 RETN MCEMP1 PEX11G PET100 PCP2 EVI5L CD209 PNPLA6 LOC107985283 TRAPPC5 ZNF358 STXBP2 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | MCOLN1 PNPLA6 XAB2 CAMSAP3 MIR6792 ZNF358 PET100 PCP2 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | LOC100128573 FCER2 CLEC4GP1 ADGRE4P CLEC4G C19orf45 RETN PEX11G ZNF557 PCP2 MBD3L4 MBD3L2 MBD3L3 ADGRE1 LOC729458 ZNF358 CLEC4M MCOLN1 INSR XAB2 ARHGEF18 CAMSAP3 MBD3L5 MIR6792 MCEMP1 PET100 FLJ25758 CD209 PNPLA6 LOC107985283 TRAPPC5 STXBP2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |