Aliases for C9orf129 Gene

Aliases for C9orf129 Gene

  • Chromosome 9 Open Reading Frame 129 2 3 5
  • BA165J3.3 2 3
  • Putative Uncharacterized Protein C9orf129 4
  • C9orf129 5

External Ids for C9orf129 Gene

Previous GeneCards Identifiers for C9orf129 Gene

  • GC00U921013
  • GC09U900668
  • GC09M095121
  • GC09M096080
  • GC09M065757

Summaries for C9orf129 Gene

GeneCards Summary for C9orf129 Gene

C9orf129 (Chromosome 9 Open Reading Frame 129) is a Pseudogene. An important paralog of this gene is FAM120A.

Additional gene information for C9orf129 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 C9orf129 Gene

Genomics for C9orf129 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C9orf129 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
GH09J093345 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 616.8 +0.4 365 2.9 EZH2 CTCF POLR2A SIN3A SMARCA4 C9orf129 FJ601678-161 KY945958 piR-32559-460 piR-41245-290 WNK2 ENSG00000203364 FAM120A
GH09J093347 Enhancer 0.3 ENCODE 600.7 -1.4 -1360 0.2 EZH2 C9orf129 KY945958 piR-32559-460 piR-41245-290 FAM120A WNK2
GH09J093294 Enhancer 1.3 FANTOM5 Ensembl ENCODE 7 +46.5 46513 12.6 HNRNPL GATAD2A CTCF TFE3 NFKBIZ RCOR2 PRDM1 ZIC2 RBFOX2 RXRB WNK2 RNU6-829P SUSD3 C9orf129 FGD3 ZNF484 piR-61776 lnc-C9orf129-1 FAM120A
GH09J093200 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 5.3 +139.9 139935 12.9 HNRNPL GATAD2A ZBTB33 TFE3 RFX1 SOX13 NFKBIZ KDM1A RCOR2 FOXA1 NOL8 IARS1 CENPP RNU6-829P ENSG00000203364 WNK2 C9orf129 lnc-C9orf129-1 FAM120A
GH09J093354 Enhancer 0.3 ENCODE 8.9 -8.2 -8230 0.6 FOS MG828770 piR-32559-461 RNU6-829P C9orf129 WNK2 FAM120A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9orf129 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C9orf129

Top Transcription factor binding sites by QIAGEN in the C9orf129 gene promoter:
  • aMEF-2
  • AML1a
  • Arnt
  • COUP
  • COUP-TF
  • COUP-TF1
  • Hlf
  • HNF-4alpha1
  • HNF-4alpha2
  • MEF-2A

Genomic Locations for C9orf129 Gene

Genomic Locations for C9orf129 Gene
chr9:93,318,199-93,346,414
(GRCh38/hg38)
Size:
28,216 bases
Orientation:
Minus strand
chr9:96,080,481-96,108,696
(GRCh37/hg19)
Size:
28,216 bases
Orientation:
Minus strand

Genomic View for C9orf129 Gene

Genes around C9orf129 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf129 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf129 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf129 Gene

Proteins for C9orf129 Gene

  • Protein details for C9orf129 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T035-CI129_HUMAN
    Recommended name:
    Putative uncharacterized protein C9orf129
    Protein Accession:
    Q5T035

    Protein attributes for C9orf129 Gene

    Size:
    196 amino acids
    Molecular mass:
    20715 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C9orf129 Gene

Post-translational modifications for C9orf129 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf129 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for C9orf129 Gene

Domains & Families for C9orf129 Gene

Gene Families for C9orf129 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C9orf129 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C9orf129: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C9orf129 Gene

Function for C9orf129 Gene

Phenotypes From GWAS Catalog for C9orf129 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C9orf129

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf129 Gene

Localization for C9orf129 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 C9orf129 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C9orf129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with C9orf129: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C9orf129 Gene

Pathways & Interactions for C9orf129 Gene

PathCards logo

SuperPathways for C9orf129 Gene

No Data Available

Interacting Proteins for C9orf129 Gene

Gene Ontology (GO) - Biological Process for C9orf129 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf129 Gene

Drugs & Compounds for C9orf129 Gene

No Compound Related Data Available

Transcripts for C9orf129 Gene

mRNA/cDNA for C9orf129 Gene

2 REFSEQ mRNAs :
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 C9orf129

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf129 Gene

No ASD Table

Relevant External Links for C9orf129 Gene

GeneLoc Exon Structure for
C9orf129

Expression for C9orf129 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C9orf129 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf129 Gene

This gene is overexpressed in Brain - Cortex (x6.2), Brain - Frontal Cortex (BA9) (x6.1), Brain - Anterior cingulate cortex (BA24) (x6.1), and Brain - Hypothalamus (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf129 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C9orf129

SOURCE GeneReport for Unigene cluster for C9orf129 Gene:

Hs.575636
genes like me logo Genes that share expression patterns with C9orf129: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf129 Gene

Orthologs for C9orf129 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C9orf129 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C9H9orf129 30
  • 98.13 (n)
C9orf129 31
  • 97 (a)
OneToOne
Species where no ortholog for C9orf129 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)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for C9orf129 Gene

ENSEMBL:
Gene Tree for C9orf129 (if available)
TreeFam:
Gene Tree for C9orf129 (if available)

Paralogs for C9orf129 Gene

Paralogs for C9orf129 Gene

(1) SIMAP similar genes for C9orf129 Gene using alignment to 1 proteins:

  • CI129_HUMAN
genes like me logo Genes that share paralogs with C9orf129: view

Variants for C9orf129 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C9orf129 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs36081907 - p.Arg191His

Additional dbSNP identifiers (rs#s) for C9orf129 Gene

Structural Variations from Database of Genomic Variants (DGV) for C9orf129 Gene

Variant ID Type Subtype PubMed ID
esv7472 OTHER inversion 19470904
nsv972782 CNV duplication 23825009
nsv972783 CNV duplication 23825009

Variation tolerance for C9orf129 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.80; 89.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9orf129 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf129

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf129 Gene

Disorders for C9orf129 Gene

Additional Disease Information for C9orf129

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

No disorders were found for C9orf129 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf129 Gene

Publications for C9orf129 Gene

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  2. 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
  3. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PMID: 17903302) Levy D … Mitchell GF (BMC medical genetics 2007) 41
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4

Products for C9orf129 Gene

Sources for C9orf129 Gene