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 20 - Exon 21 |
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 | CAMSAP3 CD209 PNPLA6 MIR6792 EVI5L PEX11G STXBP2 FCER2 XAB2 LOC100128573 MCEMP1 RETN LOC107985283 TRAPPC5 CLEC4G PET100 CLEC4GP1 C19orf45 INSR CLEC4M ZNF358 PCP2 MCOLN1 ARHGEF18 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | CAMSAP3 PET100 PNPLA6 MIR6792 ZNF358 PCP2 MCOLN1 XAB2 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | CAMSAP3 PNPLA6 MBD3L4 STXBP2 LOC100128573 MCEMP1 MBD3L3 TRAPPC5 C19orf45 INSR FLJ25758 ZNF358 ZNF557 MBD3L2 CD209 ADGRE4P LOC729458 MIR6792 PEX11G FCER2 XAB2 RETN LOC107985283 CLEC4G PET100 CLEC4GP1 MBD3L5 CLEC4M PCP2 MCOLN1 ADGRE1 ARHGEF18 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |