Hs01447983_cn

• Gene Symbol: PEX6
• Assay Reference Genome Location: Chr.6:42964235 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 5190
• Gene Name: peroxisomal biogenesis factor 6
• Gene Aliases: HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1
• Location: Chr.6:42963873-42979243 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PEX6	NM_000287.3	17	3136	NP_000278.3
	NM_001316313.1	17	2872	NP_001303242.1
	NR_133009.1	15	2889
	XM_011514661.1	16	3052	XP_011512963.1
	AB051076.1	17	3043	BAB83046.1
	AB208906.1	13	3730	BAD92143.1
	BC048331.1	17	3059	AAH48331.1
	BQ773648.1	1	379
	D83703.1	17	3113	BAA12069.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3576145	Chr.6:42728097 - 43012090 on Build GRCh38	Gain	CNPY3 TBCC CNPY3-GNMT RPL7L1 GNMT MEA1 PEX6 GLTSCR1L PPP2R5D C6orf226 ATP6V0CP3 LOC401261 PTCRA
nsv830651	Chr.6:42845563 - 43000871 on Build GRCh38	Loss	CNPY3 PPP2R5D C6orf226 CNPY3-GNMT RPL7L1 GNMT MEA1 PEX6 PTCRA GLTSCR1L
nsv602992	Chr.6:42948182 - 43110718 on Build GRCh38	Loss	PPP2R5D CNPY3-GNMT KLC4 MRPL2 KLHDC3 PTK7 CUL7 RRP36 GNMT MEA1 PEX6
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	PRPH2 TBCC CNPY3-GNMT PTK7 RRP36 GNMT ZNF318 TTBK1 GLTSCR1L PPP2R5D C6orf226 KLHDC3 LOC401261 CUL7 CUL9 PTCRA SLC22A7 CNPY3 SRF KLC4 DNPH1 RPL7L1 MEA1 PEX6 MRPL2 ATP6V0CP3 CRIP3 UBR2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein targeting to peroxisome
peroxisome organization
protein import into peroxisome matrix, translocation
protein stabilization

Function(s)

protein binding
ATP binding
protein C-terminus binding
ATPase activity
protein complex binding
ATPase activity, coupled