Gene Name	AHI1
Gene ID	54806
Gene Full Name	Abelson helper integration site 1
Gene Alias	AHI-1|JBTS3|ORF1|dJ71N10.1
Transcripts	ENSG00000135541
Virus	HTLV1
Gene Type	protein-coding
HPA Location Info	Centrosome;Primary cilium;
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	Q8N157
HGNC ID	HGNC:21575
OMIM ID	608894
Summary	This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

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
6007561	chr6	46	7	1	54	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]
GSE10789	Expression array	6	NCI/ATC Hs-OperonV3
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 - AHI1 peak across samples

Peak Plot