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Aliases for C7orf57 Gene

Aliases for C7orf57 Gene

  • Chromosome 7 Open Reading Frame 57 2 3 5

External Ids for C7orf57 Gene

Previous GeneCards Identifiers for C7orf57 Gene

  • GC07P048041
  • GC07P047960

Summaries for C7orf57 Gene

GeneCards Summary for C7orf57 Gene

C7orf57 (Chromosome 7 Open Reading Frame 57) 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 C7orf57 Gene

Genomics for C7orf57 Gene

Regulatory Elements for C7orf57 Gene

Enhancers for C7orf57 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
GH07F048109 1.2 Ensembl ENCODE 11.9 +74.5 74456 1.7 ELF3 TBL1XR1 WRNIP1 SIN3A ARID4B ZNF48 RAD21 RARA YY1 ZNF366 UPP1 C7orf57 PKD1L1 HUS1 ABCA13 LOC105375271
GH07F047939 1.7 FANTOM5 Ensembl ENCODE 5.7 -93.7 -93711 4.4 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ENSG00000225507 PKD1L1 HUS1 C7orf57 UPP1 GC07M047823
GH07F048036 0.8 ENCODE 0.8 0.0 -43 0.2 PKNOX1 ZNF76 ARID4B SIN3A RAD21 FOS NFYC REST TGIF2 SREBF1 UPP1 C7orf57 SUN3
GH07F048035 0.6 ENCODE 0.8 +0.5 451 0.1 SCRT1 SUZ12 ZNF692 ZNF792 SCRT2 PRDM10 ZIC2 ZBTB26 EZH2 C7orf57 UPP1
GH07F048038 0.5 ENCODE 0.8 +3.7 3698 1.5 SCRT2 ZNF24 PRDM10 SP7 UPP1 HUS1 C7orf57
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C7orf57 on UCSC Golden Path with GeneCards custom track

Promoters for C7orf57 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001891952 -110 800 PKNOX1 ZNF76 ARID4B SIN3A RAD21 ZNF366 SCRT2 FOS NFYC REST

Genomic Location for C7orf57 Gene

Chromosome:
7
Start:
48,035,511 bp from pter
End:
48,061,304 bp from pter
Size:
25,794 bases
Orientation:
Plus strand

Genomic View for C7orf57 Gene

Genes around C7orf57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C7orf57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C7orf57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C7orf57 Gene

Proteins for C7orf57 Gene

  • Protein details for C7orf57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEG2-CG057_HUMAN
    Recommended name:
    Uncharacterized protein C7orf57
    Protein Accession:
    Q8NEG2
    Secondary Accessions:
    • C9JBJ8

    Protein attributes for C7orf57 Gene

    Size:
    295 amino acids
    Molecular mass:
    32846 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C7orf57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C7orf57 Gene

Post-translational modifications for C7orf57 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C7orf57 Gene

Domains & Families for C7orf57 Gene

Protein Domains for C7orf57 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C7orf57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C7orf57: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C7orf57 Gene

Function for C7orf57 Gene

Phenotypes for C7orf57 Gene

GenomeRNAi human phenotypes for C7orf57:
genes like me logo Genes that share phenotypes with C7orf57: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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 C7orf57 Gene

Localization for C7orf57 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 C7orf57 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C7orf57 Gene

Pathways & Interactions for C7orf57 Gene

SuperPathways for C7orf57 Gene

No Data Available

Interacting Proteins for C7orf57 Gene

Gene Ontology (GO) - Biological Process for C7orf57 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C7orf57 Gene

Transcripts for C7orf57 Gene

mRNA/cDNA for C7orf57 Gene

(8) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C7orf57 Gene

Chromosome 7 open reading frame 57:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C7orf57 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2: -

Relevant External Links for C7orf57 Gene

GeneLoc Exon Structure for
C7orf57
ECgene alternative splicing isoforms for
C7orf57

Expression for C7orf57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C7orf57 Gene

mRNA differential expression in normal tissues according to GTEx for C7orf57 Gene

This gene is overexpressed in Brain - Hypothalamus (x6.4), Testis (x6.3), Brain - Caudate (basal ganglia) (x6.1), Fallopian Tube (x5.0), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for C7orf57 Gene

This gene is overexpressed in Bone marrow stromal cell (60.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C7orf57 Gene



Protein tissue co-expression partners for C7orf57 Gene

NURSA nuclear receptor signaling pathways regulating expression of C7orf57 Gene:

C7orf57

SOURCE GeneReport for Unigene cluster for C7orf57 Gene:

Hs.258357
genes like me logo Genes that share expression patterns with C7orf57: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C7orf57 Gene

Orthologs for C7orf57 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C7orf57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7H7orf57 34
  • 98.98 (n)
C7orf57 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm11992 34 16 35
  • 78.58 (n)
cow
(Bos Taurus)
Mammalia C4H7orf57 34 35
  • 76.88 (n)
rat
(Rattus norvegicus)
Mammalia LOC688553 34
  • 76.55 (n)
dog
(Canis familiaris)
Mammalia C18H7orf57 34
  • 76.16 (n)
C7orf57 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf57 35
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C7orf57 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7ORF57 34
  • 61.49 (n)
C7orf57 35
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C7orf57 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c7orf57 34
  • 57.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2771 35
  • 31 (a)
OneToMany
-- 35
  • 22 (a)
OneToMany
Species where no ortholog for C7orf57 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)
  • 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for C7orf57 Gene

ENSEMBL:
Gene Tree for C7orf57 (if available)
TreeFam:
Gene Tree for C7orf57 (if available)

Paralogs for C7orf57 Gene

No data available for Paralogs for C7orf57 Gene

Variants for C7orf57 Gene

Sequence variations from dbSNP and Humsavar for C7orf57 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10233232 -- 48,046,564(+) CGACA(C/T)GAAAA reference, missense
rs10236656 -- 48,052,871(+) CAGGA(A/T)GCAGC reference, missense
rs10245073 -- 48,033,914(+) CCAGG(C/T)GTGGT intron-variant, upstream-variant-2KB
rs10247308 -- 48,060,354(+) AGGCT(C/T)TTTTT utr-variant-3-prime
rs10247913 -- 48,039,842(+) CAGTA(C/T)GTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C7orf57 Gene

Variant ID Type Subtype PubMed ID
nsv606893 CNV gain 21841781
nsv5732 CNV insertion 18451855
nsv470221 CNV gain 18288195
nsv464442 CNV gain 19166990
nsv1148712 CNV deletion 26484159
nsv1132051 CNV deletion 24896259
esv3613073 CNV gain 21293372
esv2734368 CNV deletion 23290073
esv2734367 CNV deletion 23290073
esv2734366 CNV deletion 23290073
esv1442438 CNV deletion 17803354

Variation tolerance for C7orf57 Gene

Residual Variation Intolerance Score: 94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.37; 94.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C7orf57 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C7orf57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C7orf57 Gene

Disorders for C7orf57 Gene

Relevant External Links for C7orf57

Human Genome Epidemiology (HuGE) Navigator
C7orf57
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C7orf57

No disorders were found for C7orf57 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C7orf57 Gene

Publications for C7orf57 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
  2. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (PMID: 19193627) ChiA^ A. … Traynor B.J. (Hum. Mol. Genet. 2009) 3 64
  3. 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) 4 64
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 4 64
  5. 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) 3 64

Products for C7orf57 Gene

Sources for C7orf57 Gene

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