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Aliases for C9orf50 Gene

Aliases for C9orf50 Gene

  • Chromosome 9 Open Reading Frame 50 2 3 5

External Ids for C9orf50 Gene

Previous GeneCards Identifiers for C9orf50 Gene

  • GC09M129455
  • GC09M131414
  • GC09M132374
  • GC09M101973

Summaries for C9orf50 Gene

GeneCards Summary for C9orf50 Gene

C9orf50 (Chromosome 9 Open Reading Frame 50) is a Protein Coding gene.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf50 Gene

Genomics for C9orf50 Gene

Regulatory Elements for C9orf50 Gene

Enhancers for C9orf50 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
GH09G129566 2 FANTOM5 Ensembl ENCODE dbSUPER 13 +53.0 52978 5.8 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF143 C9orf50 NTMT1 LOC105376292 NCS1 IER5L CRAT PTPA LINC00963
GH09G129457 2 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +162.4 162428 4.4 HDGF FOXA2 CREB3L1 ARID4B SIN3A YBX1 DMAP1 YY1 ZNF766 ZNF143 LOC101929314 SPOUT1 LOC101929270 NTMT1 C9orf50 LINC00963 USP20 C9orf106 ASB6 C9orf78
GH09G129555 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 +64.3 64334 4.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZBTB7B YY1 SLC30A9 PAF1 SP5 NTMT1 C9orf50 IER5L LOC105376289 PKN3 DOLPP1 LOC105376292 LINC00963
GH09G129342 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +276.9 276874 6.0 FOXA2 MLX ARID4B DMAP1 ZNF48 TCF12 SLC30A9 FOS SP5 MXD4 IER5L LOC105376289 NTMT1 C9orf50 LINC01503 C9orf106 CERCAM C9orf78 TOR1B RN7SL159P
GH09G129776 2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -155.2 -155201 2.5 HDGF PKNOX1 CREB3L1 ARNT FEZF1 ZNF2 ZNF766 ZNF143 FOS DEK TOR1B C9orf78 TOR1A PRRX2-AS1 PRRX2 ASB6 ENSG00000234789 USP20 C9orf50 NTMT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf50 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242046 1975 601 PKNOX1 ZFP64 SIN3A YY1 GLIS2 ZNF143 ZNF263 SP3 JUNB TBX21

Genomic Location for C9orf50 Gene

Chromosome:
9
Start:
129,612,225 bp from pter
End:
129,622,275 bp from pter
Size:
10,051 bases
Orientation:
Minus strand

Genomic View for C9orf50 Gene

Genes around C9orf50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf50 Gene

Proteins for C9orf50 Gene

  • Protein details for C9orf50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SZB4-CI050_HUMAN
    Recommended name:
    Uncharacterized protein C9orf50
    Protein Accession:
    Q5SZB4
    Secondary Accessions:
    • Q2M1I2
    • Q8NA65

    Protein attributes for C9orf50 Gene

    Size:
    431 amino acids
    Molecular mass:
    47639 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AK093122; Type=Erroneous termination; Positions=378; Note=Translated as Gln.; Evidence={ECO:0000305};

neXtProt entry for C9orf50 Gene

Post-translational modifications for C9orf50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C9orf50 Gene

Domains & Families for C9orf50 Gene

Protein Domains for C9orf50 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf50: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf50 Gene

Function for C9orf50 Gene

Phenotypes for C9orf50 Gene

GenomeRNAi human phenotypes for C9orf50:
genes like me logo Genes that share phenotypes with C9orf50: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf50 Gene

Localization for C9orf50 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 C9orf50 gene
Compartment Confidence
nucleus 3
mitochondrion 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf50 Gene

Pathways & Interactions for C9orf50 Gene

SuperPathways for C9orf50 Gene

No Data Available

Interacting Proteins for C9orf50 Gene

Selected Interacting proteins: Q5SZB4-CI050_HUMAN for C9orf50 Gene via IID

Symbol External ID(s) Details
PPP1CC

Gene Ontology (GO) - Biological Process for C9orf50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf50 Gene

Drugs & Compounds for C9orf50 Gene

No Compound Related Data Available

Transcripts for C9orf50 Gene

mRNA/cDNA for C9orf50 Gene

Unigene Clusters for C9orf50 Gene

Chromosome 9 open reading frame 50:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf50 Gene

No ASD Table

Relevant External Links for C9orf50 Gene

GeneLoc Exon Structure for
C9orf50
ECgene alternative splicing isoforms for
C9orf50

Expression for C9orf50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf50 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf50 Gene

This gene is overexpressed in Testis (x17.8).

Protein differential expression in normal tissues from HIPED for C9orf50 Gene

This gene is overexpressed in Serum (62.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf50 Gene



Protein tissue co-expression partners for C9orf50 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf50 Gene:

C9orf50

SOURCE GeneReport for Unigene cluster for C9orf50 Gene:

Hs.124223
genes like me logo Genes that share expression patterns with C9orf50: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf50 Gene

Orthologs for C9orf50 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C9orf50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9orf50 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H9orf50 34
  • 74.17 (n)
-- 35
  • 51 (a)
OneToMany
-- 35
  • 42 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C11H9orf50 34
  • 72.56 (n)
C9orf50 35
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311084 34
  • 70.68 (n)
mouse
(Mus musculus)
Mammalia 1700001O22Rik 34 16 35
  • 65.21 (n)
Species where no ortholog for C9orf50 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C9orf50 Gene

ENSEMBL:
Gene Tree for C9orf50 (if available)
TreeFam:
Gene Tree for C9orf50 (if available)

Paralogs for C9orf50 Gene

No data available for Paralogs for C9orf50 Gene

Variants for C9orf50 Gene

Sequence variations from dbSNP and Humsavar for C9orf50 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000319099 -- 129,619,251(+) GGTGA(A/T)TGGGA intron-variant, upstream-variant-2KB
rs1000859678 -- 129,621,294(+) CAGCC(C/G)CCATT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000889691 -- 129,614,956(+) CCATT(A/G)CATCC intron-variant, reference, utr-variant-3-prime, stop-lost
rs1001261290 -- 129,615,195(+) GCTAC(A/G)GGTCT intron-variant
rs1001322600 -- 129,620,438(+) CCCGC(C/G)CGCCC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for C9orf50 Gene

Variant ID Type Subtype PubMed ID
esv2669087 CNV deletion 23128226
esv3621837 CNV loss 21293372
nsv1046477 CNV gain 25217958
nsv469901 CNV loss 18288195
nsv831731 CNV gain+loss 17160897
nsv951783 CNV deletion 24416366

Variation tolerance for C9orf50 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.80; 73.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf50 Gene

Disorders for C9orf50 Gene

Relevant External Links for C9orf50

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf50

No disorders were found for C9orf50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf50 Gene

Publications for C9orf50 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. (PMID: 23934736) Yu B. … Boerwinkle E. (Genet. Epidemiol. 2013) 3 64
  3. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark S.L. … van den Oord E.J. (Psychol Med 2012) 3 64
  4. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M. … da Cruz e Silva E.F. (Biochem. Pharmacol. 2011) 3 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for C9orf50 Gene

Sources for C9orf50 Gene

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