Hs02326288_cn

• Gene Symbol: PHF8
• Assay Reference Genome Location: Chr.X:53940502 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: Overlaps Intron 25 - Exon 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHF8	NM_001184896.1			NP_001171825.1
	NM_001184897.1			NP_001171826.1
	NM_015107.2			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			XP_016884851.1
	AB029034.1
	AK021696.1			BAB13877.1
	AK022788.1
	AK304272.1
	BC053861.1			AAH53861.1
	CR933612.1			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	ITIH6 HSD17B10 MIR6857 IQSEC2 SNORA109 MIR4536-2 TSPYL2 MIR6894 KANTR MIR6895 SNORA11 GPR173 PFKFB1 SMC1A PHF8 FAM104B FAM156B LOC100421746 MTRNR2L10 USP51 WNK3 FGD1 KDM5C MIR4536-1 GNL3L ALAS2 PAGE2 MAGEH1 HUWE1 PAGE5 FAM120C TSR2 MIR98 PAGE3 RIBC1 XAGE3 APEX2 MIRLET7F2 FAM156A MAGED2 FOXR2 PAGE2B TRO
nsv524220	Chr.X:53755908 - 53949955 on Build GRCh38	Gain	PHF8
nsv435891	Chr.X:52861979 - 55653313 on Build GRCh38	Deletion	ITIH6 HSD17B10 MIR6857 IQSEC2 SNORA109 MIR4536-2 TSPYL2 MIR6894 KANTR MIR6895 SNORA11 GPR173 PFKFB1 SMC1A PHF8 FAM104B FAM156B LOC100421746 MTRNR2L10 USP51 WNK3 FGD1 KDM5C MIR4536-1 GNL3L ALAS2 PAGE2 MAGEH1 HUWE1 PAGE5 FAM120C TSR2 MIR98 PAGE3 RIBC1 XAGE3 APEX2 MIRLET7F2 FAM156A MAGED2 FOXR2 PAGE2B TRO

More Information

• Set Membership: Intragenic, Non-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)