Hs07499883_cn

• Gene Symbol: P4HB
• Assay Reference Genome Location: Chr.17:81844157 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: Overlaps Intron 10 - Exon 11

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

More Information

Additional Information:

For this assay, SNP(s) [rs112897683,rs138348620] 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, 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