Assay Details
Target Gene Details
Entrez Gene ID: | 5034 |
Gene Name: | prolyl 4-hydroxylase subunit beta |
Gene Aliases: |
CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB |
Location: |
Chr.17:81843158-81860668 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HB | NM_000918.3 | NP_000909.2 | ||
AK095938.1 | ||||
AK128783.1 | ||||
AK297081.1 | ||||
AK297967.1 | ||||
AK300561.1 | ||||
AK315631.1 | ||||
BC010859.1 | AAH10859.1 | |||
BC014504.1 | ||||
BC029617.1 | AAH29617.1 | |||
BC071892.1 | AAH71892.1 | |||
CA412209.1 | ||||
J02783.1 | AAA61169.1 | |||
X05130.1 | CAA28775.1 | |||
X07077.1 | CAA30112.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | CEP131 LOC105371944 MRPL12 LOC101929552 TMEM105 MIR4525 OGFOD3 HGS ANAPC11 ALYREF C17orf62 MIR3186 AATK DCXR PDE6G HEXDC RAC3 FN3K PYCR1 BAHCC1 RAB40B SNORD134 TEPSIN ASPSCR1 CCDC57 LOC100130370 CSNK1D MIR6786 C17orf89 SIRT7 DUS1L MIR4740 NOTUM SLC16A3 MCRIP1 PCYT2 UTS2R LOC105371925 TBCD SLC25A10 TSPAN10 SECTM1 LOC101929511 FAAP100 STRA13 MAFG FOXK2 ARHGDIA NARF FASN ZNF750 SLC38A10 CD7 LINC00482 MIR6787 AATK-AS1 LRRC45 LOC105376791 PPP1R27 GCGR P4HB MAFG-AS1 WDR45B GPS1 CCDC137 FSCN2 LOC105376790 ARL16 MYADML2 RFNG NPB ACTG1 FN3KRP OXLD1 TEX19 B3GNTL1 NPLOC4 |
nsv470620 | Chr.17:81516973 - 82064485 on Build GRCh38 | Loss | FAAP100 STRA13 MAFG MRPL12 ARHGDIA HGS ANAPC11 ALYREF DCXR PDE6G LRRC45 RAC3 PPP1R27 PYCR1 ASPSCR1 GCGR P4HB MIR6786 MAFG-AS1 SIRT7 DUS1L GPS1 NOTUM CCDC137 FSCN2 MCRIP1 ARL16 PCYT2 MYADML2 RFNG NPB OXLD1 SLC25A10 NPLOC4 TSPAN10 |
nsv952390 | Chr.17:81637175 - 81860124 on Build GRCh38 | Deletion | GCGR P4HB MIR6786 MRPL12 HGS CCDC137 MCRIP1 ARL16 PDE6G PPP1R27 OXLD1 SLC25A10 TSPAN10 |
nsv833569 | Chr.17:81838937 - 82011412 on Build GRCh38 | Loss | ASPSCR1 P4HB MAFG MAFG-AS1 ARHGDIA SIRT7 ANAPC11 ALYREF NOTUM PCYT2 MYADML2 NPB PYCR1 |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | LOC105371944 LOC101929552 MIR4525 OGFOD3 ANAPC11 ALYREF C17orf62 DCXR HEXDC RAC3 FN3K PYCR1 RAB40B SNORD134 ASPSCR1 CCDC57 CSNK1D SIRT7 DUS1L NOTUM SLC16A3 MCRIP1 PCYT2 UTS2R TBCD SECTM1 LOC101929511 STRA13 MAFG FOXK2 ARHGDIA NARF FASN ZNF750 METRNL CD7 MIR6787 LRRC45 LOC105376791 PPP1R27 P4HB MAFG-AS1 WDR45B GPS1 LOC105376790 MYADML2 RFNG NPB FN3KRP TEX19 B3GNTL1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |