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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf117 Gene

protein-coding GIFtS: 37
GCID: GC09P130469 (predicted)

chromosome 9 open reading frame 117

Search for C9orf117
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chromosome 9 Open Reading Frame 117¹ ²
Uncharacterized Protein C9orf117²

External Ids:	HGNC: 27843¹	Entrez Gene: 286207²	Ensembl: ENSG00000160401⁷	UniProtKB: Q5JU67³

Export aliases for C9orf117 gene to outside databases

Previous GC identifers: GC09P125846 GC09P127548 GC09P129509 GC09P100085

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C9orf117 gene promoter:
Bach1 Max1 Spz1 Tal-1 AML1a NF-E2 p45 YY1 FOXO4 NF-E2
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf117

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.11 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34.11

C9orf117 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf117 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P130469: view genomic region (about GC identifiers)

Start:	130,469,268 bp from pter	End:	130,478,281 bp from pter
Size:	9,014 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CI117_HUMAN, Q5JU67 (See protein sequence)

Recommended Name: Uncharacterized protein C9orf117

Size: 520 amino acids; 60533 Da

Secondary accessions: A5D8T9

Alternative splicing: 2 isoforms: Q5JU67-1 Q5JU67-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C9orf117: NX_Q5JU67

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5JU67

C9orf117 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001012520.2

ENSEMBL proteins:

ENSP00000362392 ENSP00000362391

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q5JU67

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Phenotypes:
1 GenomeRNAi human phenotype for C9orf117:

Increased gamma-H2AX phosphory

Animal Models:

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C9orf117

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Search CenterWatch for drugs/clinical trials and news about C9orf117 / CI117

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for C9orf117 gene:

NM_001012502.2

Unigene Cluster for C9orf117:

Chromosome 9 open reading frame 117

Hs.652519 [show with all ESTs]

Unigene Representative Sequence: NM_001012502

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000496009(uc010mxl.1) ENST00000373295(uc004brn.1) ENST00000464092

ENST00000461104 ENST00000373293

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5 DOTS entries:

DT.101975434 DT.303093 DT.95267887 DT.91706728 DT.100793361

24/29 AceView cDNA sequences (see all 29):

AW571900 CN478977 AW050584 AL833241 BM969322 AK126437 BV194240 CB853028

BI829804 AI668699 CA312978 AI687249 AK094948 CA945065 AW104320 BV190351

AW516765 AA909387 AA906243 AI734275 AA812702 AW082303 AI560019 AI689121

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf117 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	·	4d	^	5	^	6
SP1:
SP2:					-
SP3:					-		-
SP4:

ECgene alternative splicing isoforms for C9orf117

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C9orf117 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCCACCCAA

About this image

C9orf117 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C9orf117 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf117

SOURCE GeneReport for Unigene cluster: Hs.652519

SABiosciences Custom PCR Arrays for C9orf117

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for C9orf117 gene from 3/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	1700019L03Rik^{1 , 5}	RIKEN cDNA 1700019L03 gene^{1, 5}	76.83(n)¹ 65.44(a)¹	2 (22.09 cM)⁵ 227736¹ NM_025619.1¹ NP_079895.1¹ 32777381⁵
zebrafish (Danio rerio)	Actinopterygii	si:ch211-233f10.4¹	si:ch211-233f10.4	51.19(n) 38(a)	794225 NM_001110168.1 NP_001103638.1
fruit fly (Drosophila melanogaster)	Insecta	CG17122¹	CG17122	44.66(n) 25.62(a)	40226 NM_170639.1 NP_730506.1

ENSEMBL Gene Tree for C9orf117 (if available)
TreeFam Gene Tree for C9orf117 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for C9orf117 gene

CCDC176²

C9orf117 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs149690737^1,2		--	130467290(+)	`TCAAAC/GTGCTG`	1	--	us2k¹		0	--	--	--	--
rs114099359^1,2		--	130467316(+)	`ACCAGT/AGCACC`	1	--	us2k¹		1		WA	118
rs145538111^1,2		--	130467440(+)	`TGGCCA/GGTGCT`	1	--	us2k¹		0	--	--	--	--
rs114932323^1,2		--	130467487(+)	`TCAGAA/CGACCC`	1	--	us2k¹		1		WA	118
rs182041084^1,2		--	130467563(+)	`ACTACA/GGAAGG`	1	--	us2k¹		0	--	--	--	--
rs115919242^1,2	F	--	130467693(+)	`GCAGCG/ATCCCC`	1	--	us2k¹		1		WA	118
rs112698434^1,2	C	--	130467802(+)	`ACCCTC/ATGTGG`	1	--	us2k¹		2		CSA WA	119
rs143424597^1,2		--	130467922(+)	`CCCCCC/GGTCAA`	1	--	us2k¹		0	--	--	--	--
rs187931197^1,2		--	130468056(+)	`GGCCTC/TCCCGC`	1	--	us2k¹		0	--	--	--	--
rs137892345^1,2		--	130468146(+)	`GTCTCC/TTCCCT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C9orf117 (130469268 - 130478281 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C9orf117: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for C9orf117 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf117)

Utopia: connect your pdf to the dynamic
world of online information

Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 286207	HGNC: 27843	AceView: C9orf117	Ensembl:ENSG00000160401	euGenes: HUgn286207
ECgene: C9orf117	H-InvDB: C9orf117

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for C9orf117	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf117 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf117 gene:
Search GeneIP for patents involving C9orf117

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf117

	Browse SwitchGear 3'UTR luciferase reporter plasmids for C9orf117
	Browse SwitchGear Promoter luciferase reporter plasmids for C9orf117

Search ThermoFisher Antibodies for C9orf117

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf117

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C9orf117

Sirion Biotech Customized:

	stable knockdown cell line services for C9orf117
	inducible knockdown cell line services for C9orf117
	design and validation of potent shRNA sequences against C9orf117
	adenovirus for potent knockdown of C9orf117
	adenovirus for overexpression of C9orf117
	stable overexpressing cell line services for C9orf117
	inducible overexpressing cell line services for C9orf117

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C9orf117 gene at Home site.

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C9orf117 Gene

chromosome 9 open reading frame 117

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C9orf117 Gene

chromosome 9 open reading frame 117

Aliasesfor C9orf117 gene

Summariesfor C9orf117 gene

Genomic Viewsfor C9orf117 gene

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Genome Databases showing C9orf117 gene

Other Databases showing C9orf117 gene

Specialized Databases showing C9orf117 gene

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for C9orf117 gene

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for C9orf117 gene

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for C9orf117 gene

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for C9orf117 gene

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