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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

Regulatory Elements for FRA10AC1 Gene

Enhancers for FRA10AC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H093701 1.2 ENCODE 60.4 +0.1 90 2.3 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 ZC3H11A RPL17P34 NOC3L FRA10AC1 PDE6C ENSG00000273450 MYOF HELLS
GH10H093748 1 Ensembl ENCODE 25.2 -46.7 -46720 1.9 ZNF2 ZNF121 GATA3 ZNF366 ZSCAN5C ZNF600 KLF8 ZFP37 OSR2 ZSCAN21 FRA10AC1 LOC101927013 GC10P093720
GH10H093752 0.7 ENCODE 27.3 -50.4 -50397 0.2 PKNOX1 RFX1 JUN ZNF133 BMI1 RFX5 JUND ZNF585B CREB1 FOSL2 FRA10AC1 PDE6C LOC101927013 GC10P093720
GH10H093750 0.6 ENCODE 25.1 -48.7 -48699 1.3 STAT1 HCFC1 SUZ12 ZNF76 ETS1 ZNF217 POLR2A ZNF143 THAP11 FRA10AC1 LOC101927013 GC10P093720
GH10H093754 0.7 Ensembl 19.8 -49.6 -49629 0.4 HCFC1 SUZ12 ZNF76 SIX5 ETS1 ZNF217 ZNF664 ZSCAN21 ZNF143 REPIN1 FRA10AC1 LOC101927013 GC10P093720
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FRA10AC1 on UCSC Golden Path with GeneCards custom track

Promoters for FRA10AC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031792 -28 2001 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 ZC3H11A

Genomic Locations for FRA10AC1 Gene

Genomic Locations for FRA10AC1 Gene
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

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

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, PaxDb, 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 33 34
  • 99.68 (n)
(Canis familiaris)
Mammalia FRA10AC1 33 34
  • 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 33 16 34
  • 86.35 (n)
(Monodelphis domestica)
Mammalia FRA10AC1 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia FRA10AC1 34
  • 71 (a)
(Gallus gallus)
Aves FRA10AC1 33 34
  • 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 33 34
  • 67.43 (n)
wufc62g03 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010729 33
  • 50.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16890 33 34
  • 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)
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)

Paralogs for FRA10AC1 Gene

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

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 Sequence Context AA Info Type
rs1000016865 -- 93,673,085(+) AACAC(C/T)TCCAA intron-variant
rs1000218076 -- 93,700,162(+) CAGGA(A/C)ACAAT intron-variant
rs1000249948 -- 93,679,367(+) AATAA(C/T)GGAAA intron-variant
rs1000272130 -- 93,700,644(+) CTCCA(A/G)ATTTC intron-variant
rs1000355483 -- 93,686,416(+) CCATC(A/C)ATTTT 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)

Relevant External Links 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

Relevant External Links for FRA10AC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 60
  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 60
  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 60

Products for FRA10AC1 Gene

Sources for FRA10AC1 Gene

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