Gene Name	LOXHD1
Gene ID	125336
Gene Full Name	lipoxygenase homology PLAT domains 1
Gene Alias	DFNB77|LH2D1
Transcripts	ENSG00000167210
Virus	HTLV1
Gene Type	protein-coding
HPA Location Info	Plasma membrane;
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	Q8IVV2
HGNC ID	HGNC:26521
OMIM ID	613072
Summary	This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 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
6020568	chr18	3	1	2	6	View
6030490	chr18	0	0	0	0	View
6030602	chr18	0	0	0	0	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 - LOXHD1 peak across samples

Peak Plot