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Aliases for C6orf47 Gene

Aliases for C6orf47 Gene

  • Chromosome 6 Open Reading Frame 47 2 3 5
  • Protein G4 3 4
  • G4 3 4
  • Uncharacterized Protein C6orf47 3
  • D6S53E 3
  • NG34 3

External Ids for C6orf47 Gene

Previous GeneCards Identifiers for C6orf47 Gene

  • GC06M031689
  • GC06M031396
  • GC06M031730
  • GC06M031735
  • GC06M031627
  • GC06M031630
  • GC06M031634
  • GC06M031637
  • GC06M031641
  • GC06M031646
  • GC06M031650
  • GC06M031685
  • GC06M031663
  • GC06M031674
  • GC06M031723
  • GC06M031792
  • GC06M031815
  • GC06M031846
  • GC06M031889

Summaries for C6orf47 Gene

GeneCards Summary for C6orf47 Gene

C6orf47 (Chromosome 6 Open Reading Frame 47) is a Protein Coding gene.

Additional gene information for C6orf47 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 C6orf47 Gene

Genomics for C6orf47 Gene

GeneHancer (GH) Regulatory Elements for C6orf47 Gene

Promoters and enhancers for C6orf47 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I031658 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 634 3.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 SLC30A9 POLR2B E2F8 BAG6 C6orf47 C6orf47-AS1 LY6G5C C4A LY6G5B MICB STK19B VWA7 CYP21A1P
GH06I031663 Enhancer 0.7 ENCODE dbSUPER 550.8 -1.5 -1505 0.1 GLIS2 IKZF1 NR2C1 ID3 IKZF2 SPI1 C6orf47 BAG6 ENSG00000201207 GC06P032042 GPANK1
GH06I031538 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.9 +119.6 119633 4.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 DDX39B DDX39B-AS1 GC06M031555 GC06M031573 GC06M031962 GC06M031965 GC06M031970 PIR32498 PIR59933 SNORD84
GH06I031813 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34.2 -165.1 -165104 25.6 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C6orf48 HSPA1B HSPA1A HSPA1L GC06P032039 ATF6B DDX39B LY6G5B LSM2 BAG6
GH06I031733 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.5 -76.7 -76683 8.5 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 MSH5 CLIC1 DDX39B LY6G5B ATF6B LSM2 CSNK2B SKIV2L GPANK1 BAG6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C6orf47 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C6orf47 gene promoter:

Genomic Locations for C6orf47 Gene

Genomic Locations for C6orf47 Gene
chr6:31,658,298-31,660,772
(GRCh38/hg38)
Size:
2,475 bases
Orientation:
Minus strand
chr6:31,626,075-31,628,549
(GRCh37/hg19)

Genomic View for C6orf47 Gene

Genes around C6orf47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6orf47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C6orf47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for C6orf47 Gene

  • Protein details for C6orf47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95873-CF047_HUMAN
    Recommended name:
    Uncharacterized protein C6orf47
    Protein Accession:
    O95873
    Secondary Accessions:
    • B0UXA1
    • B0UZ50
    • Q5SSS6
    • Q95IG0

    Protein attributes for C6orf47 Gene

    Size:
    294 amino acids
    Molecular mass:
    31710 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C6orf47 Gene

Post-translational modifications for C6orf47 Gene

  • Ubiquitination at Lys147 and posLast=153153
  • Modification sites at PhosphoSitePlus

Other Protein References for C6orf47 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C6orf47 Gene

Domains & Families for C6orf47 Gene

Gene Families for C6orf47 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for C6orf47 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C6orf47 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C6orf47: view

No data available for UniProtKB/Swiss-Prot for C6orf47 Gene

Function for C6orf47 Gene

Phenotypes From GWAS Catalog for C6orf47 Gene

Phenotypes for C6orf47 Gene

GenomeRNAi human phenotypes for C6orf47:
genes like me logo Genes that share phenotypes with C6orf47: 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 , Transcription Factor Targets and HOMER Transcription for C6orf47 Gene

Localization for C6orf47 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 C6orf47 gene
Compartment Confidence
cytosol 5
plasma membrane 3
mitochondrion 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C6orf47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with C6orf47: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C6orf47 Gene

Pathways & Interactions for C6orf47 Gene

SuperPathways for C6orf47 Gene

No Data Available

Interacting Proteins for C6orf47 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000365076%0d%0a9606.ENSP00000339824%0d%0a
Selected Interacting proteins: ENSP00000365076 O95873-CF047_HUMAN for C6orf47 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C6orf47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C6orf47 Gene

Drugs & Compounds for C6orf47 Gene

No Compound Related Data Available

Transcripts for C6orf47 Gene

mRNA/cDNA for C6orf47 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(94) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C6orf47 Gene

Chromosome 6 open reading frame 47:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C6orf47 Gene

No ASD Table

Relevant External Links for C6orf47 Gene

GeneLoc Exon Structure for
C6orf47
ECgene alternative splicing isoforms for
C6orf47

Expression for C6orf47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C6orf47 Gene

Protein differential expression in normal tissues from HIPED for C6orf47 Gene

This gene is overexpressed in Colon (18.7), Urinary Bladder (17.4), Ovary (9.2), and Pancreas (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C6orf47 Gene



NURSA nuclear receptor signaling pathways regulating expression of C6orf47 Gene:

C6orf47

SOURCE GeneReport for Unigene cluster for C6orf47 Gene:

Hs.247323

Evidence on tissue expression from TISSUES for C6orf47 Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with C6orf47: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C6orf47 Gene

Orthologs for C6orf47 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C6orf47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf47 33
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia C12H6orf47 33
  • 85.05 (n)
cow
(Bos Taurus)
Mammalia C23H6orf47 33
  • 83.5 (n)
C23H6ORF47 34
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D17H6S53E 33 16 34
  • 79.29 (n)
rat
(Rattus norvegicus)
Mammalia G4 33
  • 78.84 (n)
oppossum
(Monodelphis domestica)
Mammalia C6orf47 34
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C19H6orf47 34
  • 23 (a)
OneToOne
Species where no ortholog for C6orf47 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)
  • 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)

Evolution for C6orf47 Gene

ENSEMBL:
Gene Tree for C6orf47 (if available)
TreeFam:
Gene Tree for C6orf47 (if available)

Paralogs for C6orf47 Gene

No data available for Paralogs for C6orf47 Gene

Variants for C6orf47 Gene

Sequence variations from dbSNP and Humsavar for C6orf47 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1002270126 -- 31,660,913(-) C/G upstream_transcript_variant
rs1003246539 -- 31,660,261(-) G/C 5_prime_UTR_variant
rs1003859566 -- 31,657,993(-) C/T downstream_transcript_variant
rs1005016874 -- 31,661,876(-) C/A/T upstream_transcript_variant
rs1005477810 -- 31,658,629(-) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for C6orf47 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv1161370 CNV deletion 26073780
nsv462871 CNV loss 19166990
nsv601942 CNV loss 21841781
nsv830627 CNV loss 17160897

Variation tolerance for C6orf47 Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.32; 76.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C6orf47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C6orf47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C6orf47 Gene

Disorders for C6orf47 Gene

Additional Disease Information for C6orf47

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for C6orf47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C6orf47 Gene

Publications for C6orf47 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  3. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PMID: 14656967) Xie T … Hood L (Genome research 2003) 3 4 58
  4. Identification of multiple HTF-island associated genes in the human major histocompatibility complex class III region. (PMID: 2477242) Sargent CA … Campbell RD (The EMBO journal 1989) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for C6orf47 Gene

Sources for C6orf47 Gene

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