Hs00623424_cn

• Gene Symbol: PAFAH1B3
• Assay Reference Genome Location: Chr.19:42302401 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 5050
• Gene Name: platelet activating factor acetylhydrolase 1b catalytic subunit 3
• Gene Aliases: PAFAHG
• Location: Chr.19:42297033-42302800 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAFAH1B3	NM_001145939.1			NP_001139411.1
	NM_001145940.1			NP_001139412.1
	NM_002573.3	1	244	NP_002564.1
	XM_017026846.1	1	96	XP_016882335.1
	XM_017026847.1			XP_016882336.1
	XM_017026848.1			XP_016882337.1
	AA432316.1
	BC003016.1	1	171	AAH03016.1
	BC007863.2	1	42	AAH07863.1
	BE048307.1
	CB216829.1	1	244
	D63391.1			BAA09706.1

Target Gene Details

• Entrez Gene ID: 284338
• Gene Name: proline rich 19
• Gene Aliases: -
• Location: Chr.19:42302132-42310821 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRR19	NM_199285.2	1	270	NP_954979.2
	AK291528.1	1	271
	BC063021.1	1	304	AAH63021.1
	BM762502.1	1	270

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv520239	Chr.19:41853387 - 42426852 on Build GRCh38	Loss	LIPE-AS1 PAFAH1B3 ATP1A3 CD79A LOC390937 GRIK5 ARHGEF1 GSK3A LOC101930071 ZNF574 ERF CNFN MIR4323 ZNF526 TMEM145 POU2F2 DEDD2 LIPE LOC100505585 PRR19 RABAC1 MIR6797 MIR8077 MEGF8 RPS19 CIC LOC100505622
nsv526186	Chr.19:42172329 - 42699355 on Build GRCh38	Gain	ZNF526 TMEM145 LIPE-AS1 PAFAH1B3 POU2F2 DEDD2 LIPE GSK3A LOC101930071 PRR19 ERF MIR8077 MEGF8 CXCL17 CIC CEACAM8 CNFN CEACAM1
esv3583422	Chr.19:42302014 - 42308116 on Build GRCh38	Loss	PAFAH1B3 PRR19
nsv1160627	Chr.19:42209979 - 42341899 on Build GRCh38	Deletion	ZNF526 TMEM145 ERF MEGF8 PAFAH1B3 DEDD2 CIC GSK3A PRR19
nsv953583	Chr.19:42242549 - 42312148 on Build GRCh38	Deletion	ERF PAFAH1B3 CIC GSK3A PRR19
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	LIPE-AS1 PAFAH1B3 ATP1A3 CD79A LYPD4 LOC390937 GRIK5 ARHGEF1 GSK3A LOC101930071 DMRTC2 ZNF574 ERF CEACAM5 CEACAM4 CNFN CEACAM7 MIR4323 ZNF526 TMEM145 POU2F2 CEACAM3 DEDD2 LIPE LOC100505585 PRR19 RABAC1 MIR6797 MIR8077 MEGF8 RPS19 CEACAM6 CIC LOC100505622
nsv833834	Chr.19:42232292 - 42330875 on Build GRCh38	Loss	TMEM145 ERF MEGF8 PAFAH1B3 CIC GSK3A PRR19
esv2422471	Chr.19:42228989 - 43165333 on Build GRCh38	Deletion	TMEM145 PSG2 LOC100289650 LIPE-AS1 PSG1 PAFAH1B3 PSG11 LIPE GSK3A LOC101930071 PRR19 PSG6 PSG8 ERF MIR8077 MEGF8 CXCL17 PSG10P CIC PSG7 CEACAM8 PSG3 CNFN CEACAM1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

lipid metabolic process
spermatogenesis
nervous system development
brain development
lipid catabolic process

Function(s)

1-alkyl-2-acetylglycerophosphocholine esterase activity
phospholipase A2 activity
protein binding
identical protein binding
protein heterodimerization activity
platelet-activating factor acetyltransferase activity