Gene Name	CEP78
Gene ID	84131
Gene Full Name	centrosomal protein 78
Gene Alias	C9orf81|CRDHL|IP63
Transcripts	ENSG00000148019
Virus	HTLV1
Gene Type	protein-coding
HPA Location Info
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	Q5JTW2
HGNC ID	HGNC:25740
OMIM ID	617110
Summary	This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]

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
6032279	chr9	0	0	0	0	View

Data ID	Experiment type	Sample number	Platform
C   GSE94732	Chip-seq	24	Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens)
GSE168557	Expression array	6	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version)
GSE224047	RNA-seq	10	Illumina NextSeq 500 (Homo sapiens)
GSE189602	Methylation profiling (Array)	4	Infinium MethylationEPIC
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 - CEP78 peak across samples

Peak Plot