Gene Name	C9orf72
Gene ID	203228
Gene Full Name	C9orf72-SMCR8 complex subunit
Gene Alias	ALSFTD|DENND9|DENNL72|FTDALS|FTDALS1
Transcripts	ENSG00000147894
Virus	HPV
Gene Type	protein-coding
HPA Location Info	Vesicles, Cytosol;Midbody ring;Intracellular and membrane;
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	Q96LT7
HGNC ID	HGNC:28337
OMIM ID	614260
Summary	The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]

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
5006574	chr9	0	4	0	4	View

Data ID	Experiment type	Sample number	Platform
C   GSE183048	Chip-seq	24	Illumina HiSeq 4000 (Homo sapiens)
GSE226620	scRNA-seq	30	HiSeq X Ten (Homo sapiens)
GSE139324	scRNA-seq	63	Illumina NextSeq 500 (Homo sapiens)
GSE169622	Methylation profiling (Array)	9	Infinium MethylationEPIC
GSE65858	Expression array	270	Illumina HumanHT-12 V4.0 expression beadchip
GSE181805	Expression array	25	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE196215	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE164690	scRNA-seq	51	Illumina NextSeq 500 (Homo sapiens)
GSE138080	Expression array	35	Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version)
GSE140662	Expression array	8	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE55542	Expression array	36	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
C   GSE143026	ATAC-seq;Chip-seq;RNA-seq	30	Illumina HiSeq 2500 (Homo sapiens)
TCGA_CESC	DNA methylation sequencing;RNA-seq	288	TCGA
GSE51993	Expression array	48	Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip
GSE197461	scRNA-seq	16	Illumina NovaSeq 6000 (Homo sapiens)
GSE55550	Expression array	155	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
GSE165883	RNA-seq	20	Illumina NextSeq 500 (Homo sapiens)

• Genome binding/occupancy profiling

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

> Dataset: GSE183048 - C9orf72 peak across samples

Peak Plot

> Dataset: GSE143026 - C9orf72 peak across samples

Peak Plot