Hs07501616_cn

• Gene Symbol: P4HB
• Assay Reference Genome Location: Chr.17:81844668 on build GRCh38
• Cytoband: 17q25.3

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	TEX19 GCGR FN3K C17orf89 ANAPC11 LINC00482 LOC105376790 PPP1R27 RAB40B CEP131 HEXDC TMEM105 DUS1L FSCN2 MIR6787 AATK-AS1 LOC101929552 CCDC57 DCXR WDR45B GPS1 MRPL12 MAFG-AS1 LOC101929511 SIRT7 BAHCC1 SLC38A10 MIR4740 RAC3 MCRIP1 LOC100130370 LOC105371944 NPLOC4 ARL16 PDE6G MAFG STRA13 OGFOD3 TEPSIN C17orf62 PCYT2 P4HB ALYREF MIR4525 OXLD1 TBCD ZNF750 TSPAN10 LRRC45 CD7 MIR3186 NARF SNORD134 ARHGDIA RFNG ACTG1 LOC105371925 SLC25A10 CCDC137 MIR6786 HGS ASPSCR1 SLC16A3 MYADML2 LOC105376791 FOXK2 FN3KRP NPB UTS2R FAAP100 PYCR1 B3GNTL1 CSNK1D SECTM1 AATK NOTUM FASN
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	PCYT2 GCGR P4HB ANAPC11 PPP1R27 ALYREF OXLD1 TSPAN10 DUS1L FSCN2 LRRC45 DCXR ARHGDIA GPS1 RFNG MRPL12 MAFG-AS1 SLC25A10 CCDC137 SIRT7 MIR6786 HGS ASPSCR1 RAC3 MYADML2 NPB MCRIP1 FAAP100 PYCR1 NPLOC4 ARL16 NOTUM PDE6G MAFG STRA13
nsv952390	Chr.17:81637175 - 81860124 on Build GRCh38	Deletion	MRPL12 SLC25A10 CCDC137 GCGR P4HB MIR6786 HGS PPP1R27 OXLD1 TSPAN10 MCRIP1 ARL16 PDE6G
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	ARHGDIA MAFG-AS1 PCYT2 P4HB ANAPC11 SIRT7 ALYREF ASPSCR1 MYADML2 NPB PYCR1 NOTUM MAFG
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	TEX19 FN3K ANAPC11 LOC105376790 PPP1R27 RAB40B HEXDC DUS1L MIR6787 LOC101929552 CCDC57 DCXR WDR45B GPS1 MAFG-AS1 LOC101929511 SIRT7 RAC3 MCRIP1 LOC105371944 MAFG STRA13 OGFOD3 C17orf62 PCYT2 P4HB ALYREF MIR4525 TBCD ZNF750 LRRC45 CD7 NARF SNORD134 ARHGDIA RFNG ASPSCR1 SLC16A3 MYADML2 LOC105376791 FOXK2 FN3KRP NPB UTS2R METRNL PYCR1 B3GNTL1 CSNK1D SECTM1 NOTUM FASN

More Information

Additional Information:

For this assay, SNP(s) [rs116595956] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

response to reactive oxygen species
protein folding
peptidyl-proline hydroxylation to 4-hydroxy-L-proline
response to endoplasmic reticulum stress
lipoprotein biosynthetic process
cell redox homeostasis
positive regulation of viral entry into host cell
cellular response to hypoxia
regulation of oxidative stress-induced intrinsic apoptotic signaling pathway

Function(s)

protein disulfide isomerase activity
procollagen-proline 4-dioxygenase activity
integrin binding
protein binding
enzyme binding
poly(A) RNA binding
protein heterodimerization activity