Gene table of ATRX : ATRX, chromatin remodeler

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATRX	OMIM link	Number of associated genes	genes
301040	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATRX
309580	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATRX
300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME	ClinVar, OMIM	link to OMIM	1	ATRX

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Annotation of the gene ATRX

Associated genes in ENSEMBL

ENSG00000085224

Associated proteins - SwissProt Accession ID

P46100

Associated PDB IDs

Cytogenetic Band

Xq21.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
histone binding	GO:0042393	4.72
methylated histone binding	GO:0035064	5.81
nucleic acid binding	GO:0003676	1.44
purine ribonucleoside triphosphate binding	GO:0035639	2.22
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
DNA binding	GO:0003677	1.92
DNA helicase activity	GO:0003678	5.73
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
ATPase activity, coupled	GO:0042623	3.97
ion binding	GO:0043167	1.36
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
nucleoside-triphosphatase activity	GO:0017111	3.09
chromo shadow domain binding	GO:0070087	7.95
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
protein domain specific binding	GO:0019904	3.32
DNA translocase activity	GO:0015616	8.64
DNA-dependent ATPase activity	GO:0008094	5.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
chromatin binding	GO:0003682	3.64
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19