Gene Name	APTX
Gene ID	54840
Gene Full Name	aprataxin
Gene Alias	AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT
Transcripts	ENSG00000137074
Virus	HTLV1
Gene Type	protein-coding
HPA Location Info	Nucleoplasm, Nucleoli;
Membrane Info	Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Uniport_ID	Q7Z2E3
HGNC ID	HGNC:15984
OMIM ID	606350
Summary	This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
6012758	chr9	21	0	0	21	View
6013682	chr9	0	18	0	18	View
6029583	chr9	1	0	0	1	View

Data ID	Experiment type	Sample number	Platform
GSE189602	Methylation profiling (Array)	4	Infinium MethylationEPIC
C   GSE94732	Chip-seq	24	Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens)
GSE52244	Expression array	15	[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version]
GSE224047	RNA-seq	10	Illumina NextSeq 500 (Homo sapiens)
GSE168557	Expression array	6	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version)
GSE136189	Methylation profiling (Array)	40	Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE94732 - APTX peak across samples

Peak Plot