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: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITPNM1 | NM_001130848.1 | 11 | 1804 | NP_001124320.1 |
NM_004910.2 | 11 | 1804 | NP_004901.2 | |
XM_011545396.2 | 11 | 1820 | XP_011543698.1 | |
XM_017018586.1 | 11 | 1864 | XP_016874075.1 | |
AF334584.1 | 11 | 1751 | AAK01444.1 | |
AK126944.1 | 1 | 409 | ||
AK312886.1 | 10 | 1582 | ||
AY429102.1 | 10 | 1578 | AAR06909.1 | |
BC022230.1 | 11 | 1797 | AAH22230.1 | |
X98654.1 | 10 | 1767 | 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 | MIR6752 CARNS1 CORO1B AIP GPR152 PTPRCAP CABP4 PITPNM1 CDK2AP2 RPS6KB2 TMEM134 |
esv2422195 | Chr.11:67466851 - 67859430 on Build GRCh38 | Duplication | MIR6752 AIP ACY3 GSTP1 PITPNM1 TBX10 CDK2AP2 NUDT8 FAM86C2P ALDH3B2 CABP2 TMEM134 NDUFV1 DOC2GP C11orf72 |
dgv1977n54 | Chr.11:67397024 - 67521123 on Build GRCh38 | Loss | MIR6752 CARNS1 CORO1B AIP PTPRCAP PITPNM1 TBC1D10C RAD9A CDK2AP2 RPS6KB2 GPR152 CABP4 CABP2 TMEM134 PPP1CA |
nsv368 | Chr.11:67479842 - 67509866 on Build GRCh38 | Insertion | MIR6752 AIP PITPNM1 CDK2AP2 |
dgv52n111 | Chr.11:67362651 - 67521123 on Build GRCh38 | Deletion | MIR6752 CARNS1 CORO1B AIP PTPRCAP PITPNM1 TBC1D10C RAD9A CDK2AP2 RPS6KB2 CLCF1 LOC100130987 GPR152 CABP4 CABP2 TMEM134 PPP1CA |
nsv521723 | Chr.11:67408221 - 67543787 on Build GRCh38 | Loss | MIR6752 CARNS1 CORO1B AIP PTPRCAP PITPNM1 TBC1D10C CDK2AP2 RPS6KB2 GPR152 CABP4 CABP2 TMEM134 |
nsv951022 | Chr.11:67493430 - 67504729 on Build GRCh38 | Deletion | PITPNM1 |
nsv527056 | Chr.11:67439955 - 67526837 on Build GRCh38 | Loss | MIR6752 CORO1B AIP GPR152 CABP4 PITPNM1 CABP2 CDK2AP2 TMEM134 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |