Name: [Hs00569840_cn] [PIKFYVE]
Creator: Thermo Fisher Scientific
Keywords: [PIKFYVE] Assay, [phosphoinositide kinase, FYVE-type zinc finger containing] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	200576
Gene Name:	phosphoinositide kinase, FYVE-type zinc finger containing
Gene Aliases:	CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29
Location:	Chr.2:208266178-208358751 on Build GRCh38
Assay Gene Location:	Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIKFYVE	NM_001178000.1	2	235	NP_001171471.1
	NM_015040.3	2	235	NP_055855.2
	NM_152671.3	2	235	NP_689884.1
	XM_011510778.2	2	249	XP_011509080.1
	XM_011510779.2	2	182	XP_011509081.1
	XM_011510780.2	2	270	XP_011509082.1
	XM_011510781.2	2	208	XP_011509083.1
	XM_011510782.2	2	249	XP_011509084.1
	XM_011510783.2	2	249	XP_011509085.1
	XM_011510784.2	2	270	XP_011509086.1
	XM_011510785.2	2	207	XP_011509087.1
	XM_011510786.2	2	207	XP_011509088.1
	XM_011510787.1	2	219	XP_011509089.1
	XM_011510788.1	2	235	XP_011509090.1
	XM_011510789.2	2	207	XP_011509091.1
	XM_011510790.1	2	235	XP_011509092.1
	XM_011510792.2	2	249	XP_011509094.1
	XM_017003568.1	2	139	XP_016859057.1
	XM_017003569.1	2	139	XP_016859058.1
	XM_017003570.1	2	261	XP_016859059.1
	XM_017003571.1	2	207	XP_016859060.1
	XM_017003572.1	1	75	XP_016859061.1
	XM_017003573.1	2	296	XP_016859062.1
	AK127769.1	2	139	BAC87123.1
	AY457063.1	2	239	AAR19397.1
	BC032389.1	2	235	AAH32389.1
	BC125052.1	2	224
	BC125053.1	2	224
	EU794609.1	2	239

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv584297	Chr.2:208155457 - 208452035 on Build GRCh38	Gain	PIKFYVE IDH1 PTH2R LOC100507443 C2orf80 CRYGA IDH1-AS1
nsv834517	Chr.2:208142073 - 208305545 on Build GRCh38	Loss	PIKFYVE IDH1 LOC100507443 C2orf80 CRYGB CRYGA IDH1-AS1