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Aliases for C9orf78 Gene

Aliases for C9orf78 Gene

  • Chromosome 9 Open Reading Frame 78 2 3 5
  • Hepatocellular Carcinoma-Associated Antigen 59 2 3 4
  • HCA59 3 4
  • Uncharacterized Protein C9orf78 3
  • BA409K20.3 3
  • HSPC220 3

External Ids for C9orf78 Gene

Previous GeneCards Identifiers for C9orf78 Gene

  • GC09M127965
  • GC09M127946
  • GC09M129669
  • GC09M131629
  • GC09M132590
  • GC09M102188

Summaries for C9orf78 Gene

GeneCards Summary for C9orf78 Gene

C9orf78 (Chromosome 9 Open Reading Frame 78) is a Protein Coding gene.

Gene Wiki entry for C9orf78 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf78 Gene

Genomics for C9orf78 Gene

Regulatory Elements for C9orf78 Gene

Enhancers for C9orf78 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G129789 1.4 Ensembl ENCODE 44 +45.3 45332 1.1 HNRNPUL1 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A YBX1 ZNF2 SLC30A9 C9orf78 TOR1A PRRX2-AS1 ASB6 ENSG00000234789 PRRX2 USP20 TOR1B UBE2V1P4
GH09G129838 1.4 Ensembl ENCODE dbSUPER 39.9 -3.7 -3676 2.3 HDAC1 HDGF PKNOX1 CBX3 ATF1 TBL1XR1 NFXL1 ZBTB40 GATA2 EGR1 C9orf78 TOR1A TOR1B MIR6855
GH09G129834 1.3 ENCODE dbSUPER 39.9 +0.2 172 2.9 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 C9orf78 TOR1A TOR1B IER5L USP20
GH09G129882 1.8 FANTOM5 ENCODE dbSUPER 27.1 -54.3 -54306 14.6 HDGF PKNOX1 FOXA2 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 YBX1 ZNF2 USP20 C9orf78 FNBP1 TOR1A TOR1B LOC101929314 ASB6 ENSG00000230684 ENSG00000234789 ENSG00000224988
GH09G129822 1.2 ENCODE 39.7 +12.2 12202 2.3 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D C9orf78 TOR1A TOR1B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf78 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf78 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242093 463 2001 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for C9orf78 Gene

Chromosome:
9
Start:
129,827,285 bp from pter
End:
129,835,863 bp from pter
Size:
8,579 bases
Orientation:
Minus strand

Genomic View for C9orf78 Gene

Genes around C9orf78 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf78 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf78 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf78 Gene

Proteins for C9orf78 Gene

  • Protein details for C9orf78 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ63-CI078_HUMAN
    Recommended name:
    Uncharacterized protein C9orf78
    Protein Accession:
    Q9NZ63
    Secondary Accessions:
    • B3KPX8
    • Q8WVU6
    • Q9NT39

    Protein attributes for C9orf78 Gene

    Size:
    289 amino acids
    Molecular mass:
    33688 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C9orf78 Gene

Post-translational modifications for C9orf78 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf78 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf78 Gene

Domains & Families for C9orf78 Gene

Protein Domains for C9orf78 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C9orf78 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf78: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C9orf78 Gene

Function for C9orf78 Gene

Gene Ontology (GO) - Molecular Function for C9orf78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with C9orf78: view

Phenotypes for C9orf78 Gene

genes like me logo Genes that share phenotypes with C9orf78: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf78 Gene

Localization for C9orf78 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C9orf78 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for C9orf78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with C9orf78: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C9orf78 Gene

Pathways & Interactions for C9orf78 Gene

SuperPathways for C9orf78 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C9orf78 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf78 Gene

Transcripts for C9orf78 Gene

Unigene Clusters for C9orf78 Gene

Chromosome 9 open reading frame 78:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf78 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: -
SP2: - - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for C9orf78 Gene

GeneLoc Exon Structure for
C9orf78
ECgene alternative splicing isoforms for
C9orf78

Expression for C9orf78 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf78 Gene

Protein differential expression in normal tissues from HIPED for C9orf78 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (32.3) and CD8 Tcells (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C9orf78 Gene



Protein tissue co-expression partners for C9orf78 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf78 Gene:

C9orf78

SOURCE GeneReport for Unigene cluster for C9orf78 Gene:

Hs.278429

Evidence on tissue expression from TISSUES for C9orf78 Gene

  • Blood(4.5)
  • Bone marrow(4.4)
  • Liver(4.4)
  • Muscle(4.4)
  • Nervous system(3.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with C9orf78: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf78 Gene

Orthologs for C9orf78 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for C9orf78 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9orf78 35
  • 100 (a)
OneToOne
C9H9orf78 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia C11H9ORF78 35
  • 98 (a)
OneToOne
C11H9orf78 34
  • 90.82 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 96 (a)
OneToMany
C9H9orf78 34
  • 92.96 (n)
mouse
(Mus musculus)
Mammalia BC005624 34 16 35
  • 87.31 (n)
oppossum
(Monodelphis domestica)
Mammalia C9orf78 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf78 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9orf78 35
  • 86 (a)
OneToOne
C17H9ORF78 34
  • 79.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf78 34
  • 74.42 (n)
zebrafish
(Danio rerio)
Actinopterygii C5H9orf78 35
  • 77 (a)
OneToOne
zgc:103692 34
  • 71.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7974 34 35
  • 59.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006620 34
  • 58.88 (n)
worm
(Caenorhabditis elegans)
Secernentea T23G11.4 35
  • 29 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G02330 34
  • 43.16 (n)
rice
(Oryza sativa)
Liliopsida Os03g0374100 34
  • 44.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8931 35
  • 52 (a)
OneToOne
Species where no ortholog for C9orf78 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for C9orf78 Gene

ENSEMBL:
Gene Tree for C9orf78 (if available)
TreeFam:
Gene Tree for C9orf78 (if available)

Paralogs for C9orf78 Gene

Pseudogenes.org Pseudogenes for C9orf78 Gene

genes like me logo Genes that share paralogs with C9orf78: view

No data available for Paralogs for C9orf78 Gene

Variants for C9orf78 Gene

Sequence variations from dbSNP and Humsavar for C9orf78 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000364254 -- 129,835,001(+) CTTGA(A/G)CCTCA intron-variant, upstream-variant-2KB
rs1000696501 -- 129,836,376(+) GTTTT(A/T)CAAAT intron-variant, upstream-variant-2KB
rs1000742270 -- 129,834,042(+) ATCCA(C/T)TGCAG intron-variant, upstream-variant-2KB
rs1000775996 -- 129,835,221(+) CGGCA(C/T)GGTGA upstream-variant-2KB, reference, missense
rs1000798366 -- 129,827,525(+) GTATT(A/G)TCACA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C9orf78 Gene

Variant ID Type Subtype PubMed ID
dgv1511e214 CNV gain 21293372
esv3621839 CNV loss 21293372
nsv1046477 CNV gain 25217958
nsv1161909 CNV duplication 26073780

Variation tolerance for C9orf78 Gene

Residual Variation Intolerance Score: 20.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf78 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf78

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf78 Gene

Disorders for C9orf78 Gene

Relevant External Links for C9orf78

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf78

No disorders were found for C9orf78 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf78 Gene

Publications for C9orf78 Gene

  1. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PMID: 12097419) Wang Y. … Chen W.-F. (J. Immunol. 2002) 2 3 4 64
  2. Tls1 regulates splicing of shelterin components to control telomeric heterochromatin assembly and telomere length. (PMID: 25245948) Wang J. … Jia S. (Nucleic Acids Res. 2014) 2 3 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for C9orf78 Gene

Sources for C9orf78 Gene

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