Assay Details
Target Gene Details
Entrez Gene ID: | 80339 |
Gene Name: | patatin like phospholipase domain containing 3 |
Gene Aliases: |
ADPN, C22orf20, iPLA(2)epsilon |
Location: |
Chr.22:43923739-43947568 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPLA3 | NM_025225.2 | NP_079501.2 | ||
AK025665.1 | ||||
AK123806.1 | ||||
AK315166.1 | ||||
AL138578.2 | CAB71238.2 | |||
BC065195.1 | AAH65195.1 | |||
CR456476.1 | CAG30362.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834219 | Chr.22:43853996 - 44012877 on Build GRCh38 | Gain | PARVB SAMM50 SULT4A1 PNPLA5 PNPLA3 |
nsv1055831 | Chr.22:43878234 - 43932651 on Build GRCh38 | Gain | PNPLA5 PNPLA3 |
nsv528458 | Chr.22:43927090 - 43946236 on Build GRCh38 | Gain | PNPLA3 |
nsv829265 | Chr.22:43828073 - 43928999 on Build GRCh38 | Loss | SULT4A1 PNPLA5 PNPLA3 LOC105373057 |
nsv513592 | Chr.22:43927308 - 43928728 on Build GRCh38 | Insertion | PNPLA3 |
nsv834218 | Chr.22:43800912 - 43982015 on Build GRCh38 | Loss | SAMM50 SULT4A1 PNPLA5 EFCAB6 PNPLA3 LOC105373057 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |