Gene table of PHF8 : PHD finger protein 8

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PHF8	OMIM link	Number of associated genes	genes
PS309510	MENTAL RETARDATION, X-LINKED SYNDROMIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	27	AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
M Phase	R-HSA-68886	4.87
Cell Cycle, Mitotic	R-HSA-69278	4.16
Chromatin organization	R-HSA-4839726	5.19
HDMs demethylate histones	R-HSA-3214842	8.4
Cell Cycle	R-HSA-1640170	3.89
Chromatin modifying enzymes	R-HSA-3247509	5.19
Mitotic Prophase	R-HSA-68875	6.27
Condensation of Prophase Chromosomes	R-HSA-2299718	7.66

Associated GO terms for Molecular function

GO term	GO ID	GO IC
oxidoreductase activity	GO:0016491	3.12
histone binding	GO:0042393	4.72
methylated histone binding	GO:0035064	5.81
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
histone demethylase activity (H4-K20 specific)	GO:0035575	9.05
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
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	GO:0016706	5.95
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
histone demethylase activity (H3-K36 specific)	GO:0051864	7.79
ion binding	GO:0043167	1.36
iron ion binding	GO:0005506	4.65
metal ion binding	GO:0046872	1.41
histone demethylase activity (H3-K27 specific)	GO:0071558	8.13
catalytic activity	GO:0003824	1.05
dioxygenase activity	GO:0051213	5.25
demethylase activity	GO:0032451	6.21
histone demethylase activity	GO:0032452	6.48
histone demethylase activity (H3-K9 specific)	GO:0032454	7.66
protein binding	GO:0005515	0.46
chromatin binding	GO:0003682	3.64
zinc ion binding	GO:0008270	2.66