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Aliases for C9orf116 Gene

Aliases for C9orf116 Gene

  • Chromosome 9 Open Reading Frame 116 2 3 5
  • P53-Induced Expression 1 In Rb−/− Cells 2 3
  • P53-Induced Expression In RB-Null Cells Protein 1 3 4
  • PIERCE1 3 4
  • Pierce 1 3
  • RbEST47 3

External Ids for C9orf116 Gene

Previous GeneCards Identifiers for C9orf116 Gene

  • GC09M133827
  • GC09M135612
  • GC09M137526
  • GC09M138387
  • GC09M107848

Summaries for C9orf116 Gene

GeneCards Summary for C9orf116 Gene

C9orf116 (Chromosome 9 Open Reading Frame 116) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf116 Gene

Genomics for C9orf116 Gene

Regulatory Elements for C9orf116 Gene

Promoters for C9orf116 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C9orf116 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf116 Gene

Chromosome:
9
Start:
135,495,180 bp from pter
End:
135,501,832 bp from pter
Size:
6,653 bases
Orientation:
Minus strand

Genomic View for C9orf116 Gene

Genes around C9orf116 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf116 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf116 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf116 Gene

Proteins for C9orf116 Gene

  • Protein details for C9orf116 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5BN46-CI116_HUMAN
    Recommended name:
    UPF0691 protein C9orf116
    Protein Accession:
    Q5BN46
    Secondary Accessions:
    • Q5T897
    • Q8WU44

    Protein attributes for C9orf116 Gene

    Size:
    136 amino acids
    Molecular mass:
    15260 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C9orf116 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf116 Gene

Proteomics data for C9orf116 Gene at MOPED

Post-translational modifications for C9orf116 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf116 Gene

No data available for DME Specific Peptides for C9orf116 Gene

Domains & Families for C9orf116 Gene

Protein Domains for C9orf116 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C9orf116 Gene

Graphical View of Domain Structure for InterPro Entry

Q5BN46

UniProtKB/Swiss-Prot:

CI116_HUMAN :
  • Belongs to the UPF0691 family.
Family:
  • Belongs to the UPF0691 family.
genes like me logo Genes that share domains with C9orf116: view

No data available for Gene Families for C9orf116 Gene

Function for C9orf116 Gene

genes like me logo Genes that share phenotypes with C9orf116: view

Animal Models for C9orf116 Gene

MGI Knock Outs for C9orf116:

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf116 Gene

Localization for C9orf116 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf116 Gene COMPARTMENTS Subcellular localization image for C9orf116 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf116 Gene

Pathways & Interactions for C9orf116 Gene

SuperPathways for C9orf116 Gene

No Data Available

Interacting Proteins for C9orf116 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000395281%0d%0a9606.ENSP00000362107%0d%0a
Selected Interacting proteins: Q5BN46-CI116_HUMAN ENSP00000395281 for C9orf116 Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for C9orf116 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf116 Gene

Drugs & Compounds for C9orf116 Gene

No Compound Related Data Available

Transcripts for C9orf116 Gene

Unigene Clusters for C9orf116 Gene

Chromosome 9 open reading frame 116:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf116 Gene

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

Relevant External Links for C9orf116 Gene

GeneLoc Exon Structure for
C9orf116
ECgene alternative splicing isoforms for
C9orf116

Expression for C9orf116 Gene

mRNA expression in normal human tissues for C9orf116 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf116 Gene

This gene is overexpressed in Testis (x9.0).

Protein differential expression in normal tissues from HIPED for C9orf116 Gene

This gene is overexpressed in Esophagus (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf116 Gene



SOURCE GeneReport for Unigene cluster for C9orf116 Gene Hs.414028

genes like me logo Genes that share expression patterns with C9orf116: view

Protein tissue co-expression partners for C9orf116 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for C9orf116 Gene

Orthologs for C9orf116 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf116 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C11H9orf116 35
  • 84.07 (n)
  • 80.15 (a)
C9orf116 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700007K13Rik 35
  • 79.37 (n)
  • 75.4 (a)
1700007K13Rik 16
1700007K13Rik 36
  • 60 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf116 35
  • 99.51 (n)
  • 100 (a)
C9orf116 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306233 35
  • 77.21 (n)
  • 71.32 (a)
oppossum
(Monodelphis domestica)
Mammalia C9orf116 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf116 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733379 35
  • 63.06 (n)
  • 55.86 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-248e11.2 35
  • 52.22 (n)
  • 45 (a)
C8H9orf116 36
  • 39 (a)
OneToOne
Species with no ortholog for C9orf116:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C9orf116 Gene

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

Paralogs for C9orf116 Gene

No data available for Paralogs for C9orf116 Gene

Variants for C9orf116 Gene

Sequence variations from dbSNP and Humsavar for C9orf116 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2274650 -- 135,495,637(+) AACAC(A/G)GATTA intron-variant
rs3762067 -- 135,497,894(+) TTTCA(A/G)TGATG intron-variant
rs3762068 -- 135,497,914(+) ACAAC(A/G)AAAAT intron-variant
rs3827830 -- 135,494,899(+) GAGGC(A/G)TCTGC downstream-variant-500B
rs3827831 -- 135,495,021(+) TAGGA(C/T)GGGAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for C9orf116 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv894246 CNV Loss 21882294
nsv894247 CNV Gain 21882294
nsv469913 CNV Loss 18288195
dgv8366n71 CNV Loss 21882294
dgv8367n71 CNV Loss 21882294
nsv894251 CNV Loss 21882294
nsv894253 CNV Loss 21882294
nsv825164 CNV Gain 20364138
nsv825166 CNV Gain 20364138
nsv466656 CNV Gain 19166990

Variation tolerance for C9orf116 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf116 Gene

HapMap Linkage Disequilibrium report
C9orf116

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf116 Gene

Disorders for C9orf116 Gene

Relevant External Links for C9orf116

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf116

No disorders were found for C9orf116 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf116 Gene

Publications for C9orf116 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3

Products for C9orf116 Gene

Sources for C9orf116 Gene

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