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Aliases for C7orf57 Gene

Aliases for C7orf57 Gene

  • Chromosome 7 Open Reading Frame 57 2 3 5
  • Uncharacterized Protein C7orf57 3

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.

Additional gene information for C7orf57 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 C7orf57 Gene

Genomics for C7orf57 Gene

GeneHancer (GH) Regulatory Elements for C7orf57 Gene

Promoters and enhancers for C7orf57 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
GH07J048036 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 -0.1 -110 0.4 PKNOX1 ARID4B NEUROD1 SIN3A BMI1 RAD21 RFX5 ZNF335 FOS NFYC C7orf57 UPP1 SUN3
GH07J048035 Enhancer 0.6 ENCODE 650.7 +0.5 451 0.1 SCRT1 MXI1 ZNF777 RNF2 ZNF792 SUZ12 SIN3A ZIC2 ZNF335 ZNF692 C7orf57 UPP1
GH07J048037 Promoter 0.6 EPDnew 650.7 +2.0 2005 0.1 NRF1 C7orf57 UPP1
GH07J048109 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.9 +74.4 74446 1.6 ELF3 FOXA2 RB1 ARID4B SIN3A IRF4 ZNF48 RAD21 RARA YY1 UPP1 C7orf57 PKD1L1 HUS1 ABCA13 LOC105375271
GH07J047939 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 5.7 -93.6 -93610 4.2 JUN CEBPB EP300 NR2F2 FOSL1 JUND STAT3 FOS FOSL2 PKD1L1 HUS1 C7orf57 UPP1 ENSG00000225507 GC07M047823
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C7orf57 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C7orf57 gene promoter:
  • AREB6
  • Evi-1
  • IRF-1
  • AML1a
  • S8
  • LHX3b
  • Lhx3a
  • USF1
  • USF-1

Genomic Locations for C7orf57 Gene

Genomic Locations for C7orf57 Gene
chr7:48,035,511-48,061,304
(GRCh38/hg38)
Size:
25,794 bases
Orientation:
Plus strand
chr7:48,075,108-48,100,901
(GRCh37/hg19)
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

Gene Families for C7orf57 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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 UniProtKB/Swiss-Prot for C7orf57 Gene

Function for C7orf57 Gene

Phenotypes for C7orf57 Gene

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

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 , Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for C7orf57 Gene

No Compound Related Data Available

Transcripts for C7orf57 Gene

mRNA/cDNA for C7orf57 Gene

(9) 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:

Clone 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 CGAP 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 98.98 (n)
C7orf57 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm11992 16 34 33
  • 78.58 (n)
cow
(Bos Taurus)
Mammalia C4H7orf57 34 33
  • 76.88 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC688553 33
  • 76.55 (n)
dog
(Canis familiaris)
Mammalia C18H7orf57 33
  • 76.16 (n)
C7orf57 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf57 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C7orf57 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7ORF57 33
  • 61.49 (n)
C7orf57 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C7orf57 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c7orf57 33
  • 57.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2771 34
  • 31 (a)
OneToMany
-- 34
  • 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 Variation AA Info Type
rs1000042671 -- 48,059,967(+) A/G intron_variant
rs1000061909 -- 48,033,625(+) A/G upstream_transcript_variant
rs1000187558 -- 48,035,931(+) A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000328380 -- 48,059,655(+) G/C intron_variant
rs1000459306 -- 48,041,180(+) A/C intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for 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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58
  2. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (PMID: 19193627) Chiò A … Traynor BJ (Human molecular genetics 2009) 3 58
  3. 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) 4 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for C7orf57 Gene

Sources for C7orf57 Gene

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