Hs01540685_cn

• Gene Symbol: PHF8
• Assay Reference Genome Location: Chr.X:53939172 on build GRCh38
• Cytoband: Xp11.22

Target Gene Details

• Entrez Gene ID: 23133
• Gene Name: PHD finger protein 8
• Gene Aliases: JHDM1F, MRXSSD, ZNF422
• Location: Chr.X:53936680-54048935 on Build GRCh38
• Assay Gene Location: Within Exon 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHF8	NM_001184896.1	22	3415	NP_001171825.1
	NM_001184897.1			NP_001171826.1
	NM_015107.2	22	3566	NP_055922.1
	XM_005261996.1			XP_005262053.1
	XM_005261997.3			XP_005262054.1
	XM_005261999.1			XP_005262056.1
	XM_005262000.1			XP_005262057.1
	XM_011530778.1			XP_011529080.1
	XM_017029361.1			XP_016884850.1
	XM_017029362.1	22	3814	XP_016884851.1
	AB029034.1	22	3242
	AK022788.1	10	1734
	AK304272.1
	BC053861.1	22	3270	AAH53861.1
	CR933612.1	22	3401	CAI45929.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2740175	Chr.X:52862926 - 55652533 on Build GRCh38	Deletion	MIR6857 ALAS2 SMC1A GPR173 PAGE2B MIR98 ITIH6 FAM156A TSR2 MIR4536-2 FAM156B MIR4536-1 PHF8 IQSEC2 TSPYL2 PAGE5 MIRLET7F2 PAGE3 FOXR2 MTRNR2L10 MIR6895 MAGED2 PAGE2 USP51 GNL3L XAGE3 PFKFB1 SNORA109 RIBC1 FAM104B APEX2 FGD1 HUWE1 TRO KDM5C MIR6894 HSD17B10 SNORA11 WNK3 FAM120C LOC100421746 MAGEH1 KANTR
nsv524220	Chr.X:53755908 - 53949955 on Build GRCh38	Gain	PHF8
nsv435891	Chr.X:52861979 - 55653313 on Build GRCh38	Deletion	MIR6857 ALAS2 SMC1A GPR173 PAGE2B MIR98 ITIH6 FAM156A TSR2 MIR4536-2 FAM156B MIR4536-1 PHF8 IQSEC2 TSPYL2 PAGE5 MIRLET7F2 PAGE3 FOXR2 MTRNR2L10 MIR6895 MAGED2 PAGE2 USP51 GNL3L XAGE3 PFKFB1 SNORA109 RIBC1 FAM104B APEX2 FGD1 HUWE1 TRO KDM5C MIR6894 HSD17B10 SNORA11 WNK3 FAM120C LOC100421746 MAGEH1 KANTR

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

G1/S transition of mitotic cell cycle
transcription, DNA-templated
brain development
histone H3-K9 demethylation
histone H4-K20 demethylation
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase I promoter
oxidation-reduction process
negative regulation of chromatin silencing at rDNA
histone H3-K36 demethylation
histone H3-K27 demethylation

Function(s)

chromatin binding
iron ion binding
protein binding
zinc ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
histone demethylase activity
histone demethylase activity (H3-K9 specific)
methylated histone binding
histone demethylase activity (H4-K20 specific)
histone demethylase activity (H3-K36 specific)
histone demethylase activity (H3-K27 specific)