HTLV1 Target gene Detail Information

> C9orf72 Gene Search Result


Gene Information
Gene Name C9orf72
Gene ID 203228
Gene Full Name C9orf72-SMCR8 complex subunit
Gene Alias ALSFTD|DENND9|DENNL72|FTDALS|FTDALS1
Transcripts ENSG00000147894
Virus HTLV1
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]
Target gene [C9orf72] related to VISs

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
6020958 chr9 4 2 0 6 View

Target gene [C9orf72] related to Omics data
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


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


> Dataset: GSE94732 - C9orf72 peak across samples

Peak Plot