Assay Details
Target Gene Details
Entrez Gene ID: | 9600 |
Gene Name: | phosphatidylinositol transfer protein membrane associated 1 |
Gene Aliases: |
DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9 |
Location: |
Chr.11:67491760-67505391 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 19 - Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITPNM1 | NM_001130848.1 | NP_001124320.1 | ||
NM_004910.2 | NP_004901.2 | |||
XM_011545396.2 | XP_011543698.1 | |||
XM_017018586.1 | XP_016874075.1 | |||
AF334584.1 | AAK01444.1 | |||
AK126944.1 | ||||
AK312886.1 | ||||
AY429102.1 | AAR06909.1 | |||
BC022230.1 | AAH22230.1 | |||
X98654.1 | CAA67224.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv468604 | Chr.11:67418529 - 67516420 on Build GRCh38 | Loss | CORO1B CABP4 RPS6KB2 PTPRCAP AIP CARNS1 TMEM134 CDK2AP2 PITPNM1 MIR6752 GPR152 |
esv2422195 | Chr.11:67466851 - 67859430 on Build GRCh38 | Duplication | CABP2 C11orf72 ALDH3B2 GSTP1 ACY3 DOC2GP AIP TBX10 CDK2AP2 PITPNM1 MIR6752 NDUFV1 FAM86C2P NUDT8 TMEM134 |
dgv1977n54 | Chr.11:67397024 - 67521123 on Build GRCh38 | Loss | CABP2 CABP4 TBC1D10C AIP CARNS1 CDK2AP2 PITPNM1 MIR6752 GPR152 CORO1B RPS6KB2 PTPRCAP RAD9A TMEM134 PPP1CA |
nsv368 | Chr.11:67479842 - 67509866 on Build GRCh38 | Insertion | AIP CDK2AP2 PITPNM1 MIR6752 |
dgv52n111 | Chr.11:67362651 - 67521123 on Build GRCh38 | Deletion | CABP2 CABP4 TBC1D10C AIP CARNS1 CDK2AP2 PITPNM1 MIR6752 GPR152 CORO1B CLCF1 RPS6KB2 PTPRCAP RAD9A TMEM134 PPP1CA LOC100130987 |
nsv521723 | Chr.11:67408221 - 67543787 on Build GRCh38 | Loss | CABP2 CABP4 TBC1D10C AIP CARNS1 CDK2AP2 PITPNM1 MIR6752 GPR152 CORO1B RPS6KB2 PTPRCAP TMEM134 |
nsv951022 | Chr.11:67493430 - 67504729 on Build GRCh38 | Deletion | PITPNM1 |
nsv527056 | Chr.11:67439955 - 67526837 on Build GRCh38 | Loss | CORO1B CABP2 CABP4 AIP TMEM134 CDK2AP2 PITPNM1 MIR6752 GPR152 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |