Aliases for C1orf127 Gene

Aliases for C1orf127 Gene

  • Chromosome 1 Open Reading Frame 127 2 3 5
  • Uncharacterized Protein C1orf127 3 4
  • C1orf127 5
  • FLJ37118 2

External Ids for C1orf127 Gene

Previous GeneCards Identifiers for C1orf127 Gene

  • GC01M010941
  • GC01M010159
  • GC01M011006

Summaries for C1orf127 Gene

GeneCards Summary for C1orf127 Gene

C1orf127 (Chromosome 1 Open Reading Frame 127) is a Protein Coding gene. Diseases associated with C1orf127 include Schnyder Corneal Dystrophy and Stromal Dystrophy.

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 C1orf127 Gene

Genomics for C1orf127 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1orf127 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
GH01J010978 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 250.7 +1.6 1599 3.4 YY1 MXD4 ZFP64 CTCF FOXA2 SMAD4 RXRA SAP130 RARA THRB C1orf127 FJ601684-005 CASZ1
GH01J010984 Enhancer 0.2 Ensembl 250.7 -1.5 -1464 0.2 C1orf127 KR153194-001 lnc-TARDBP-4 TARDBP
GH01J010662 Enhancer 2.4 VISTA UCNEbase FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +305.7 305681 28.3 SP1 ZNF600 ATF2 KLF9 CEBPA ZNF10 JUND NFIC ZIC2 ZBTB10 TARDBP EXOSC10 ENSG00000226849 MTOR C1orf127 DFFA PGD RBP7 CASZ1 HSALNG0000794
GH01J011735 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.1 -754.4 -754448 4.2 ZNF207 NCOR1 MYC IKZF1 ZNF600 ZNF580 CEBPA ZNF223 ZNF10 POLR2A AGTRAP TARDBP ENSG00000226849 EXOSC10 TNFRSF1B MAD2L2 DRAXIN C1orf127 MTHFR CLCN6
GH01J010964 Promoter/Enhancer 1.2 Ensembl ENCODE 16.5 +16.3 16318 2.4 BCLAF1 ZNF600 IKZF1 CEBPA BCL11A REST CEBPB TRIM22 MCM3 ELF1 C1orf127 UBIAD1 TARDBP FJ601684-005 CASZ1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf127 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf127

Top Transcription factor binding sites by QIAGEN in the C1orf127 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Elk-1
  • MyoD
  • Pax-5
  • POU3F2

Genomic Locations for C1orf127 Gene

Latest Assembly
chr1:10,946,471-10,982,037
(GRCh38/hg38)
Size:
35,567 bases
Orientation:
Minus strand

Previous Assembly
chr1:11,006,530-11,042,094
(GRCh37/hg19 by Entrez Gene)
Size:
35,565 bases
Orientation:
Minus strand

chr1:11,006,528-11,042,094
(GRCh37/hg19 by Ensembl)
Size:
35,567 bases
Orientation:
Minus strand

Genomic View for C1orf127 Gene

Genes around C1orf127 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf127 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf127 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf127 Gene

Proteins for C1orf127 Gene

  • Protein details for C1orf127 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9H9-CA127_HUMAN
    Recommended name:
    Uncharacterized protein C1orf127
    Protein Accession:
    Q8N9H9
    Secondary Accessions:
    • A0AVG8
    • A6NKM7
    • Q5VXJ2

    Protein attributes for C1orf127 Gene

    Size:
    656 amino acids
    Molecular mass:
    69787 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf127 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf127 Gene

Post-translational modifications for C1orf127 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf127 Gene

No data available for DME Specific Peptides for C1orf127 Gene

Domains & Families for C1orf127 Gene

Gene Families for C1orf127 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf127 Gene

InterPro:

Suggested Antigen Peptide Sequences for C1orf127 Gene

GenScript: Design optimal peptide antigens:
  • C1orf127 protein (B7ZLG7_HUMAN)
  • C1orf127 protein (B7ZLG8_HUMAN)
  • C1orf127 protein (B7ZLG9_HUMAN)
genes like me logo Genes that share domains with C1orf127: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf127 Gene

Function for C1orf127 Gene

Phenotypes From GWAS Catalog for C1orf127 Gene

genes like me logo Genes that share phenotypes with C1orf127: view

Animal Models for C1orf127 Gene

MGI Knock Outs for C1orf127:
  • Gm572 Gm572<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf127

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for C1orf127 Gene

Localization for C1orf127 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 C1orf127 gene
Compartment Confidence
mitochondrion 2
peroxisome 1
nucleus 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C1orf127 Gene

Pathways & Interactions for C1orf127 Gene

PathCards logo

SuperPathways for C1orf127 Gene

No Data Available

Interacting Proteins for C1orf127 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000366203 Q8N9H9-CA127_HUMAN for C1orf127 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C1orf127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007507 heart development IBA 21873635
genes like me logo Genes that share ontologies with C1orf127: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf127 Gene

Drugs & Compounds for C1orf127 Gene

No Compound Related Data Available

Transcripts for C1orf127 Gene

mRNA/cDNA for C1orf127 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf127

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf127 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c
SP1: - - - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for C1orf127 Gene

GeneLoc Exon Structure for
C1orf127

Expression for C1orf127 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1orf127 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1orf127 Gene

This gene is overexpressed in Muscle - Skeletal (x16.3), Pancreas (x8.6), and Brain - Cerebellum (x5.1).

Protein differential expression in normal tissues from HIPED for C1orf127 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1orf127 Gene



Protein tissue co-expression partners for C1orf127 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1orf127

SOURCE GeneReport for Unigene cluster for C1orf127 Gene:

Hs.127026

Evidence on tissue expression from TISSUES for C1orf127 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with C1orf127: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf127 Gene

Orthologs for C1orf127 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf127 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1H1orf127 29
  • 98.3 (n)
C1orf127 30
  • 97 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm572 29 16 30
  • 77.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC691354 29
  • 73.66 (n)
Oppossum
(Monodelphis domestica)
Mammalia C1orf127 30
  • 60 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC101883649 29
  • 48.8 (n)
C23H1orf127 30
  • 34 (a)
OneToOne
Species where no ortholog for C1orf127 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)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C1orf127 Gene

ENSEMBL:
Gene Tree for C1orf127 (if available)
TreeFam:
Gene Tree for C1orf127 (if available)
Alliance of Genome Resources:
Additional Orthologs for C1orf127

Paralogs for C1orf127 Gene

No data available for Paralogs for C1orf127 Gene

Variants for C1orf127 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1orf127 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs116547730 Benign: not provided 10,948,070(-) C/T
NM_001170754.1(C1orf127):c.2065G>A (p.Gly689Arg)
MISSENSE
rs1281012 -- p.Arg256Gln
rs1281016 -- p.Val366Asp
rs1281018 -- p.Ala530Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C1orf127 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C1orf127 Gene

Variant ID Type Subtype PubMed ID
esv2672799 CNV deletion 23128226
esv2758921 CNV loss 17122850
esv3350549 CNV duplication 20981092
esv3585209 CNV loss 21293372
nsv1120069 OTHER inversion 24896259
nsv508869 CNV insertion 20534489
nsv832425 CNV loss 17160897

Variation tolerance for C1orf127 Gene

Residual Variation Intolerance Score: 94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.24; 76.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf127 Gene

Human Gene Mutation Database (HGMD)
C1orf127
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf127
Leiden Open Variation Database (LOVD)
C1orf127

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf127 Gene

Disorders for C1orf127 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C1orf127 Gene - From: COP

Disorder Aliases PubMed IDs
schnyder corneal dystrophy
  • sccd
stromal dystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C1orf127

genes like me logo Genes that share disorders with C1orf127: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C1orf127 Gene

Publications for C1orf127 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. (PMID: 22327514) Postel-Vinay S … Delattre O (Nature genetics 2012) 40
  4. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. (PMID: 22693459) Li R … Richards JB (PLoS genetics 2012) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for C1orf127 Gene

  • Biorbyt antibodies for C1orf127

Sources for C1orf127 Gene