Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FRA10AC1 Gene

Aliases for FRA10AC1 Gene

  • FRA10A Associated CGG Repeat 1 2 3 5
  • Fragile Site, Folic Acid Type, Rare, Fra(10)(Q23.3) Or Fra(10)(Q24.2) Candidate 1 2 3
  • C10orf4 3 4
  • Rare Folic Acid-Type Fragile Site, FRA(10)(Q23.3), Candidate Gene 1 3
  • Chromosome 10 Open Reading Frame 4 2
  • Fragile Site 10q23.3 3
  • Protein FRA10AC1 3
  • F26C11.1-Like 3
  • FRA10A 3

External Ids for FRA10AC1 Gene

Previous HGNC Symbols for FRA10AC1 Gene

  • C10orf4

Previous GeneCards Identifiers for FRA10AC1 Gene

  • GC10M095427
  • GC10M089055

Summaries for FRA10AC1 Gene

Entrez Gene Summary for FRA10AC1 Gene

  • The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

GeneCards Summary for FRA10AC1 Gene

FRA10AC1 (FRA10A Associated CGG Repeat 1) is a Protein Coding gene.

Gene Wiki entry for FRA10AC1 Gene

Additional gene information for FRA10AC1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRA10AC1 Gene

Genomics for FRA10AC1 Gene

GeneHancer (GH) Regulatory Elements for FRA10AC1 Gene

Promoters and enhancers for FRA10AC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J093701 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 697.5 +0.1 90 2.3 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 FRA10AC1 RPL17P34 NOC3L PDE6C ENSG00000273450 MYOF HELLS
GH10J093748 Enhancer 0.9 Ensembl ENCODE 25.2 -46.7 -46719 1.9 USF1 MZF1 ZNF2 ZNF121 ZNF335 GATA3 ZNF213 ZNF366 ZSCAN5C ZNF600 FRA10AC1 LOC101927013 GC10P093720
GH10J093752 Enhancer 0.6 ENCODE 27.3 -50.4 -50397 0.2 ZNF768 PKNOX1 RFX1 JUN ZNF133 BMI1 RFX5 JUND ZNF585B CREB1 FRA10AC1 PDE6C LOC101927013 GC10P093720
GH10J093750 Enhancer 0.6 ENCODE 25.1 -48.7 -48698 1.3 STAT1 SUZ12 HCFC1 SIX5 ETS1 ZNF217 SP1 ZNF335 POLR2A ZNF143 FRA10AC1 LOC101927013 GC10P093720
GH10J093541 Enhancer 1 Ensembl ENCODE 12.2 +160.0 159996 1.2 PKNOX1 NFIB KLF17 MZF1 ZNF195 ZNF2 RAD21 ZNF335 ZNF121 GLIS2 FRA10AC1 RPL17P34 HELLS RBP4 GC10M093549 GC10M093511 RNA5SP323
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRA10AC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for FRA10AC1 Gene

Genomic Locations for FRA10AC1 Gene
34,690 bases
Minus strand
34,690 bases
Minus strand

Genomic View for FRA10AC1 Gene

Genes around FRA10AC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRA10AC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRA10AC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRA10AC1 Gene

Proteins for FRA10AC1 Gene

  • Protein details for FRA10AC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FRA10AC1
    Protein Accession:
    Secondary Accessions:
    • C9JCR4
    • C9JCR5
    • C9JMY4
    • Q70Z49
    • Q70Z50
    • Q70Z51
    • Q70Z52
    • Q8N293
    • Q8WVH5
    • Q96JQ8

    Protein attributes for FRA10AC1 Gene

    315 amino acids
    Molecular mass:
    37548 Da
    Quaternary structure:
    No Data Available
    • Expansion of a polymorphic CGG repeat within the 5-UTR of this gene FRA10AC1 may be the cause of folate-sensitive fragile site FRA10A expression which is characterized by chromosomal breakage under specific cell culture conditions. No distinct phenotype has been associated with expression of FRA10A. Nevertheless, some studies have proposed that this fragile site expression might be associated with mental retardation, tumorigenesis, or neurological disorders. However, these associations can be attributed to ascertainment bias.
    • Sequence=AAK55529.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for FRA10AC1 Gene


neXtProt entry for FRA10AC1 Gene

Post-translational modifications for FRA10AC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRA10AC1 Gene

No data available for DME Specific Peptides for FRA10AC1 Gene

Domains & Families for FRA10AC1 Gene

Gene Families for FRA10AC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FRA10AC1 Gene


Suggested Antigen Peptide Sequences for FRA10AC1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRA10AC1: view

No data available for UniProtKB/Swiss-Prot for FRA10AC1 Gene

Function for FRA10AC1 Gene

Phenotypes From GWAS Catalog for FRA10AC1 Gene

Gene Ontology (GO) - Molecular Function for FRA10AC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16169070
genes like me logo Genes that share ontologies with FRA10AC1: view
genes like me logo Genes that share phenotypes with FRA10AC1: view

Animal Model Products

miRNA for FRA10AC1 Gene

miRTarBase miRNAs that target FRA10AC1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRA10AC1 Gene

Localization for FRA10AC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRA10AC1 Gene

Subcellular locations from

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 FRA10AC1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FRA10AC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with FRA10AC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRA10AC1 Gene

Pathways & Interactions for FRA10AC1 Gene

SuperPathways for FRA10AC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRA10AC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for FRA10AC1 Gene

Drugs & Compounds for FRA10AC1 Gene

No Compound Related Data Available

Transcripts for FRA10AC1 Gene

Unigene Clusters for FRA10AC1 Gene

Fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRA10AC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: -
SP2: - -
SP3: - - - - -
SP4: -
SP5: -
SP6: - -

Relevant External Links for FRA10AC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FRA10AC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRA10AC1 Gene

Protein differential expression in normal tissues from HIPED for FRA10AC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (34.5), Fetal ovary (10.7), and Testis (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRA10AC1 Gene

Protein tissue co-expression partners for FRA10AC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FRA10AC1 Gene:


SOURCE GeneReport for Unigene cluster for FRA10AC1 Gene:


mRNA Expression by UniProt/SwissProt for FRA10AC1 Gene:

Tissue specificity: Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver.

Evidence on tissue expression from TISSUES for FRA10AC1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with FRA10AC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRA10AC1 Gene

Orthologs for FRA10AC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FRA10AC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FRA10AC1 34 33
  • 99.68 (n)
(Canis familiaris)
Mammalia FRA10AC1 34 33
  • 93.08 (n)
(Bos Taurus)
Mammalia FRA10AC1 33
  • 92.91 (n)
C26H10ORF4 34
  • 92 (a)
(Rattus norvegicus)
Mammalia Fra10ac1 33
  • 88.04 (n)
(Mus musculus)
Mammalia Fra10ac1 16 34 33
  • 86.35 (n)
(Monodelphis domestica)
Mammalia FRA10AC1 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia FRA10AC1 34
  • 71 (a)
(Gallus gallus)
Aves FRA10AC1 34 33
  • 72.44 (n)
(Anolis carolinensis)
Reptilia FRA10AC1 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC147576 33
  • 68.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19509 33
(Danio rerio)
Actinopterygii fra10ac1 34 33
  • 67.43 (n)
wufc62g03 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010729 33
  • 50.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16890 34 33
  • 48.78 (n)
(Caenorhabditis elegans)
Secernentea CELE_C08H9.16 33
  • 53.43 (n)
C08H9.16 34
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G15030 33
  • 58.19 (n)
(Oryza sativa)
Liliopsida Os11g0639000 33
  • 54.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3424 34
  • 47 (a)
Cin.14549 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14549 33
Species where no ortholog for FRA10AC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FRA10AC1 Gene

Gene Tree for FRA10AC1 (if available)
Gene Tree for FRA10AC1 (if available)
Evolutionary constrained regions (ECRs) for FRA10AC1: view image

Paralogs for FRA10AC1 Gene

(1) SIMAP similar genes for FRA10AC1 Gene using alignment to 2 proteins:

  • F10C1_HUMAN
  • L8E962_HUMAN
genes like me logo Genes that share paralogs with FRA10AC1: view

No data available for Paralogs for FRA10AC1 Gene

Variants for FRA10AC1 Gene

Sequence variations from dbSNP and Humsavar for FRA10AC1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000016865 -- 93,673,085(-) C/T intron_variant
rs1000218076 -- 93,700,162(-) A/C intron_variant
rs1000249948 -- 93,679,367(-) T/C intron_variant
rs1000272130 -- 93,700,644(-) A/G intron_variant
rs1000355483 -- 93,686,416(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRA10AC1 Gene

Variant ID Type Subtype PubMed ID
esv29301 CNV loss 19812545
nsv522686 CNV loss 19592680

Variation tolerance for FRA10AC1 Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.92; 93.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRA10AC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRA10AC1 Gene

Disorders for FRA10AC1 Gene

Additional Disease Information for FRA10AC1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FRA10AC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRA10AC1 Gene

Publications for FRA10AC1 Gene

  1. Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. (PMID: 15203205) Sarafidou T … European Collaborative Consortium for the Study of ADLTE (Genomics 2004) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  4. 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 58
  5. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. (PMID: 11483580) Yu Y … He F (Genome research 2001) 3 4 58

Products for FRA10AC1 Gene

Sources for FRA10AC1 Gene

Loading form....