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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HB | NM_000918.3 | NP_000909.2 | ||
AB062434.1 | BAB93497.1 | |||
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 | LOC101929511 FSCN2 LOC105376790 RAC3 FASN TBCD LOC105371944 NPLOC4 GPS1 CCDC57 STRA13 FN3K TEPSIN ASPSCR1 MIR6786 LOC105371925 LRRC45 SLC38A10 FAAP100 MCRIP1 RAB40B C17orf62 LOC101929552 DCXR BAHCC1 HGS SNORD134 ARL16 NARF PPP1R27 B3GNTL1 ANAPC11 RFNG TSPAN10 FN3KRP PYCR1 PCYT2 NOTUM UTS2R ARHGDIA PDE6G LOC100130370 MRPL12 MIR6787 SIRT7 FOXK2 ZNF750 DUS1L ACTG1 SECTM1 HEXDC CCDC137 LINC00482 WDR45B MYADML2 CEP131 MAFG LOC105376791 CSNK1D MAFG-AS1 MIR4525 AATK-AS1 MIR3186 TEX19 CD7 MIR4740 SLC16A3 OXLD1 OGFOD3 NPB GCGR AATK ALYREF SLC25A10 TMEM105 C17orf89 P4HB |
nsv470620 | Chr.17:81516973 - 82064485 on Build GRCh38 | Loss | SIRT7 FSCN2 RAC3 DUS1L CCDC137 NPLOC4 GPS1 STRA13 MYADML2 MAFG ASPSCR1 MIR6786 LRRC45 FAAP100 MCRIP1 MAFG-AS1 DCXR HGS ARL16 OXLD1 PPP1R27 ANAPC11 NPB RFNG GCGR ALYREF SLC25A10 TSPAN10 PYCR1 PCYT2 NOTUM ARHGDIA PDE6G MRPL12 P4HB |
nsv952390 | Chr.17:81637175 - 81860124 on Build GRCh38 | Deletion | HGS ARL16 CCDC137 OXLD1 PPP1R27 MIR6786 GCGR SLC25A10 TSPAN10 MCRIP1 PDE6G MRPL12 P4HB |
nsv833569 | Chr.17:81838937 - 82011412 on Build GRCh38 | Loss | SIRT7 ANAPC11 MYADML2 NPB MAFG ASPSCR1 ALYREF PYCR1 PCYT2 NOTUM MAFG-AS1 ARHGDIA P4HB |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | LOC101929511 LOC105376790 RAC3 FASN METRNL TBCD LOC105371944 GPS1 CCDC57 STRA13 FN3K ASPSCR1 LRRC45 MCRIP1 RAB40B C17orf62 LOC101929552 DCXR SNORD134 NARF PPP1R27 B3GNTL1 ANAPC11 RFNG FN3KRP PYCR1 PCYT2 NOTUM UTS2R ARHGDIA MIR6787 SIRT7 FOXK2 ZNF750 DUS1L SECTM1 HEXDC WDR45B MYADML2 MAFG LOC105376791 CSNK1D MAFG-AS1 MIR4525 TEX19 CD7 SLC16A3 OGFOD3 NPB ALYREF P4HB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |