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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf116 Gene

protein-coding GIFtS: 38
GCID: GC09M138387

chromosome 9 open reading frame 116

Search for C9orf116
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 116¹ ²		P53-Induced Expression 1 In Rb−/− Cells²
PIERCE1¹ ²		Pierce 1²
RbEST47¹ ²		UPF0691 Protein C9orf116²
P53-Induced Expression In RB-Null Cells Protein 1² ³		Pierce1³
MGC29761¹

External Ids:	HGNC: 28435¹	Entrez Gene: 138162²	Ensembl: ENSG00000160345⁷	OMIM: 614502⁵	UniProtKB: Q5BN46³

Export aliases for C9orf116 gene to outside databases

Previous GC identifers: GC09M133827 GC09M135612 GC09M137526 GC09M107848

(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_019501.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C9orf116 gene promoter:
AhR FOXF2 NRSF form 1 CUTL1 NRSF form 2 Max N-Myc Zic3 En-1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C9orf116 promoter sequence

Search SABiosciences Chromatin IP Primers for C9orf116

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf116

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

Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3

C9orf116 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf116 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M138387: view genomic region (about GC identifiers)

Start:	138,387,026 bp from pter	End:	138,393,580 bp from pter
Size:	6,555 bases	Orientation:	minus 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,
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About This Section

UniProtKB/Swiss-Prot: CI116_HUMAN, Q5BN46 (See protein sequence)

Recommended Name: UPF0691 protein C9orf116

Size: 136 amino acids; 15260 Da

Developmental stage: May be up-regulated during progression from G1 to S phase of the cell cycle. Maximal expression in

S or G2 phase

Secondary accessions: Q5T897 Q8WU44

Alternative splicing: 2 isoforms: Q5BN46-1 Q5BN46-2

Explore the universe of human proteins at neXtProt for C9orf116: NX_Q5BN46

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5BN46

C9orf116 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001041730.1 NP_653255.1

ENSEMBL proteins:

ENSP00000395281 ENSP00000360854 ENSP00000360856 ENSP00000396392

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

C9orf116 for domains About GeneDecksing

1 InterPro domain/family:

IPR026507 UPF0691

Graphical View of Domain Structure for InterPro Entry Q5BN46

ProtoNet protein and cluster: Q5BN46

UniProtKB/Swiss-Prot: CI116_HUMAN, Q5BN46

Similarity: Belongs to the UPF0691 family

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

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About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C9orf116

(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

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(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 C9orf116 gene (2 alternative transcripts):

NM_001048265.1 NM_144654.2

Unigene Cluster for C9orf116:

Chromosome 9 open reading frame 116

Hs.414028 [show with all ESTs]

Unigene Representative Sequence: AK024007

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

ENST00000429260(uc004cft.1) ENST00000371789(uc004cfu.1) ENST00000371791(uc004cfs.1)

ENST00000371786 ENST00000419770

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Additional cDNA sequence:

AK024007.1 AY927868.1 BC021261.1

6 DOTS entries:

DT.453183 DT.92037578 DT.91658234 DT.100759007 DT.95372492 DT.40131213

24/68 AceView cDNA sequences (see all 68):

BU634102 BC021261 NM_144654 AW136460 CK904799 BM455428 CK904800 BI769148

BF116143 AA363224 AI367252 AI924352 AI582146 AW418521 BF593243 AI081854

AU142844 AW087636 BM686746 AA947674 AI028337 AI198471 BI838039 AA923538

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf116 About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	·	3c
SP1:							-
SP2:

ECgene alternative splicing isoforms for C9orf116

(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

C9orf116 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAAAGATGC

About this image

C9orf116 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 C9orf116 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf116

SOURCE GeneReport for Unigene cluster: Hs.414028

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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 C9orf116 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1700007K13Rik^{1 , 5}	RIKEN cDNA 1700007K13 gene^{1, 5}	79.37(n)¹ 75.4(a)¹		2 (19.38 cM)⁵ 69327¹ NM_027040.1¹ NP_081316.1¹ 28462001⁵
African clawed frog (Xenopus laevis)	Amphibia	BJ068288.1²	--	73.12(n)		BJ068288.1
zebrafish (Danio rerio)	Actinopterygii	si:ch211-248e11.2¹	si:ch211-248e11.2	53.65(n) 47.62(a)		557793 NM_001123243.1 NP_001116715.1
fruit fly (Drosophila melanogaster)	Insecta	CG34107⁶	--	28(a)	1 ↔ 1	3R(6050631-6051309)

ENSEMBL Gene Tree for C9orf116 (if available)
TreeFam Gene Tree for C9orf116 (if available)

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

(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
				--	--	--		--	--
rs4841990^1,2	C,F,A,H,	--	138386557(+)	`CATCAC/TCCCCT`	2	--	int¹		12		NS EA NA WA CSA	786
rs4841991^1,2	C,F,A,H,	--	138386597(+)	`TCTCTA/GCCCCT`	2	--	int¹		21		NS EA NA WA CSA	2224
rs184167814^1,2		--	138386623(+)	`CCTTGA/CTGGAG`	2	--	int¹		0	--	--	--	--
rs150187432^1,2		--	138386628(+)	`CTGGAA/GCATGA`	2	--	int¹		0	--	--	--	--
rs3827830^1,2	C,F,A,	--	138386745(+)	`GAGGCG/ATCTGC`	2	--	int¹		11		NA WA CSA EA	373
rs3827831^1,2	C,F,H,	--	138386867(+)	`TAGGAC/TGGGAG`	2	--	int¹		8		NS EA NA	928
rs193194160^1,2		--	138386928(+)	`CGAGCA/GGAGTT`	2	--	int¹		0	--	--	--	--
rs138750517^1,2		--	138386943(+)	`ACCAGC/TGCTCC`	2	--	int¹		0	--	--	--	--
rs184581428^1,2		--	138387042(+)	`ACAACA/GTTTTT`	2	--	ut3¹		0	--	--	--	--
rs113898225^1,2	C,	--	138387119(+)	`GCCCCA/GTTTGC`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C9orf116 (138387026 - 138393580 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C9orf116: --

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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

C9orf116 for disorders About MalaCards

C9orf116 for disorders About GeneDecksing

OMIM gene information: 614502 OMIM disorders: --

Export disorders for C9orf116 gene to outside databases

(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 C9orf116 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf116)

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

DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 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)^{1, 2} Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Identification of a novel Rb-regulated gene associated with the cell cycle. (PubMed id 18182857)² Sung Y.H.... Lee H.W. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)

(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: 138162	HGNC: 28435	AceView: C9orf116	Ensembl:ENSG00000160345	euGenes: HUgn138162
ECgene: C9orf116	H-InvDB: C9orf116

(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 C9orf116	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf116 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf116 gene:
Search GeneIP for patents involving C9orf116

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf116

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

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C9orf116 gene at Home site.

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C9orf116 Gene

chromosome 9 open reading frame 116

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C9orf116 Gene

chromosome 9 open reading frame 116

Aliasesfor C9orf116 gene

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for C9orf116 gene

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