Assay Details
Target Gene Details
Entrez Gene ID: | 60490 |
Gene Name: | phosphopantothenoylcysteine decarboxylase |
Gene Aliases: |
MDS018, PPC-DC, coaC |
Location: |
Chr.15:75023533-75060180 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PPCDC | NM_001301101.1 | 4 | 467 | NP_001288030.1 |
NM_001301102.1 | 4 | 500 | NP_001288031.1 | |
NM_001301103.1 | 3 | 371 | NP_001288032.1 | |
NM_001301104.1 | 3 | 489 | NP_001288033.1 | |
NM_001301105.1 | 4 | 393 | NP_001288034.1 | |
NM_021823.4 | 5 | 596 | NP_068595.3 | |
NR_125369.1 | 4 | 389 | ||
XM_017022461.1 | 4 | 511 | XP_016877950.1 | |
XM_017022462.1 | 3 | 958 | XP_016877951.1 | |
XM_017022463.1 | 2 | 2437 | XP_016877952.1 | |
XM_017022464.1 | 3 | 382 | XP_016877953.1 | |
XM_017022465.1 | 5 | 618 | XP_016877954.1 | |
AF182419.1 | 3 | 472 | AAG14955.1 | |
AK027491.1 | 5 | 558 | BAB55151.1 | |
AY358848.1 | 5 | 552 | AAQ89207.1 | |
BC014409.1 | 4 | 522 | AAH14409.1 | |
BF243417.1 | 5 | 599 | ||
BG744258.1 | 4 | 394 | ||
BI833814.1 | 2 | 340 | ||
BI907452.1 | 4 | 320 | ||
BU500301.1 | 3 | 427 | ||
DB488540.1 | 4 | 356 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv569994 | Chr.15:75044388 - 75155432 on Build GRCh38 | Loss | PPCDC |
nsv569993 | Chr.15:74949814 - 75191411 on Build GRCh38 | Gain | PPCDC RPP25 SCAMP5 |
nsv1121512 | Chr.15:72670085 - 75273877 on Build GRCh38 | Deletion | C15orf59 LOC102723750 UBL7 LOC729739 ISLR2 STRA6 CYP1A2 LOXL1-AS1 GOLGA6C LOC283731 COX5A BBS4 LOXL1 ULK3 C15orf59-AS1 STOML1 MPI NEO1 CPLX3 HCN4 ADPGK FAM219B NPTN TBC1D21 LMAN1L SCAMP2 CLK3 MIR6882 LOC732265 LOC105376731 RPP25 MIR4513 ARID3B EDC3 CD276 LOC107984728 CSK LOC101929333 REC114 ISLR CCDC33 SEMA7A CYP11A1 HIGD2B SCAMP5 GOLGA6A MIR6881 NPTN-IT1 C15orf39 PML UBL7-AS1 PPCDC CYP1A1 ADPGK-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |