Aliases for C6orf118 Gene

Aliases for C6orf118 Gene

  • Chromosome 6 Open Reading Frame 118 2 3 5
  • Uncharacterized Protein C6orf118 3 4
  • BA85G2.1 2 3
  • DJ416F21.2 (Novel Protein) 3
  • DJ416F21.2 3
  • C6orf118 5
  • MGC23884 2

External Ids for C6orf118 Gene

Previous GeneCards Identifiers for C6orf118 Gene

  • GC06M165526
  • GC06M165602
  • GC06M165663
  • GC06M163154
  • GC06M165693

Summaries for C6orf118 Gene

GeneCards Summary for C6orf118 Gene

C6orf118 (Chromosome 6 Open Reading Frame 118) is a Protein Coding gene. Diseases associated with C6orf118 include Developmental Coordination Disorder. Gene Ontology (GO) annotations related to this gene include RNA binding and ribonuclease activity.

Additional gene information for C6orf118 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C6orf118 Gene

Genomics for C6orf118 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C6orf118 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
GH06J165309 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 618.7 +0.2 190 1.5 ZNF692 RFX1 ZIC2 PATZ1 ZNF600 ZNF341 ZNF561 KLF9 SP2 RAD21 C6orf118 LOC105378113 lnc-C6orf118-3
GH06J165308 Promoter 0.3 Ensembl 607.2 +1.4 1446 0.4 C6orf118 LOC105378113 lnc-C6orf118-3
GH06J165244 Enhancer 0.4 Ensembl 4.6 +64.6 64646 2 CTCF RAD21 ZNF654 C6orf118 piR-32325-180 piR-48759-278
GH06J165230 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 0.2 +77.7 77672 2.3 CTCF POLR2A RAD21 SMC3 ZNF654 piR-32325-180 HSALNG0055023 C6orf118
GH06J165227 Enhancer 0.6 Ensembl ENCODE 0.2 +81.7 81746 0.6 CEBPB MAFF CREB1 MAFK HSALNG0055023 piR-32325-180 C6orf118
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C6orf118 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C6orf118

Top Transcription factor binding sites by QIAGEN in the C6orf118 gene promoter:
  • CREB
  • FOXL1
  • HNF-1
  • HNF-1A
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for C6orf118 Gene

Genomic Locations for C6orf118 Gene
chr6:165,279,403-165,309,647
(GRCh38/hg38)
Size:
30,245 bases
Orientation:
Minus strand
chr6:165,693,153-165,723,111
(GRCh37/hg19)
Size:
29,959 bases
Orientation:
Minus strand

Genomic View for C6orf118 Gene

Genes around C6orf118 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6orf118 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C6orf118 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C6orf118 Gene

Proteins for C6orf118 Gene

  • Protein details for C6orf118 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5N4-CF118_HUMAN
    Recommended name:
    Uncharacterized protein C6orf118
    Protein Accession:
    Q5T5N4
    Secondary Accessions:
    • Q8TC11

    Protein attributes for C6orf118 Gene

    Size:
    469 amino acids
    Molecular mass:
    53772 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C6orf118 Gene

Post-translational modifications for C6orf118 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C6orf118 Gene

Domains & Families for C6orf118 Gene

Gene Families for C6orf118 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C6orf118 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C6orf118: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C6orf118 Gene

Function for C6orf118 Gene

Phenotypes From GWAS Catalog for C6orf118 Gene

genes like me logo Genes that share phenotypes with C6orf118: view

Animal Model Products

CRISPR Products

miRNA for C6orf118 Gene

miRTarBase miRNAs that target C6orf118

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C6orf118

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 C6orf118 Gene

Localization for C6orf118 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 C6orf118 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C6orf118 Gene

Pathways & Interactions for C6orf118 Gene

PathCards logo

SuperPathways for C6orf118 Gene

No Data Available

Interacting Proteins for C6orf118 Gene

Gene Ontology (GO) - Biological Process for C6orf118 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C6orf118 Gene

Drugs & Compounds for C6orf118 Gene

No Compound Related Data Available

Transcripts for C6orf118 Gene

mRNA/cDNA for C6orf118 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C6orf118

Alternative Splicing Database (ASD) splice patterns (SP) for C6orf118 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - - -
SP2:
SP3:

Relevant External Links for C6orf118 Gene

GeneLoc Exon Structure for
C6orf118

Expression for C6orf118 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C6orf118 Gene

mRNA differential expression in normal tissues according to GTEx for C6orf118 Gene

This gene is overexpressed in Testis (x13.5), Pituitary (x6.4), Brain - Caudate (basal ganglia) (x4.7), Fallopian Tube (x4.6), and Brain - Hypothalamus (x4.6).

Protein differential expression in normal tissues from HIPED for C6orf118 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C6orf118 Gene



Protein tissue co-expression partners for C6orf118 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C6orf118

SOURCE GeneReport for Unigene cluster for C6orf118 Gene:

Hs.144734
genes like me logo Genes that share expression patterns with C6orf118: 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 C6orf118 Gene

Orthologs for C6orf118 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C6orf118 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C6H6orf118 30
  • 98.1 (n)
C6orf118 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C1H6orf118 30
  • 75.1 (n)
C6orf118 31
  • 62 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C9H6orf118 30
  • 73.29 (n)
MGC134132 31
  • 57 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia MGC94891 30
  • 69.52 (n)
Mouse
(Mus musculus)
Mammalia 1700010I14Rik 30 17 31
  • 68.39 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C6orf118 31
  • 44 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 39 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia C6orf118 31
  • 35 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c6orf118 30
  • 48.34 (n)
Species where no ortholog for C6orf118 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for C6orf118 Gene

ENSEMBL:
Gene Tree for C6orf118 (if available)
TreeFam:
Gene Tree for C6orf118 (if available)

Paralogs for C6orf118 Gene

No data available for Paralogs for C6orf118 Gene

Variants for C6orf118 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C6orf118 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs17852379 - p.Gly271Glu
rs17856754 - p.Arg385Gln
rs36007498 - p.Arg166Leu
rs510579 - p.Ile256Met
rs540751 - p.Thr301Met

Additional dbSNP identifiers (rs#s) for C6orf118 Gene

Structural Variations from Database of Genomic Variants (DGV) for C6orf118 Gene

Variant ID Type Subtype PubMed ID
esv3571525 CNV loss 25503493
esv3576252 CNV gain 25503493
nsv508438 CNV deletion 20534489
nsv5586 CNV deletion 18451855
nsv605245 CNV gain 21841781
nsv949888 CNV deletion 24416366

Variation tolerance for C6orf118 Gene

Residual Variation Intolerance Score: 95.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.50; 77.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C6orf118 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C6orf118

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C6orf118 Gene

Disorders for C6orf118 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C6orf118 Gene - From: DISEASES

Disorder Aliases PubMed IDs
developmental coordination disorder
  • motor skills disorders
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with C6orf118: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C6orf118 Gene

Publications for C6orf118 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
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population. (PMID: 28355295) Hong EP … Park JW (PloS one 2017) 3
  5. Genome-wide interaction studies reveal sex-specific asthma risk alleles. (PMID: 24824216) Myers RA … GRAAD (Human molecular genetics 2014) 3

Products for C6orf118 Gene

Sources for C6orf118 Gene