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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

No data available for 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
GH10F093701 0.4 ENCODE 28.6 +0.1 90 2.3 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 RPL17P34 NOC3L ENSG00000273450 PDE6C FRA10AC1
GH10F093748 1 Ensembl ENCODE 25.2 -46.7 -46720 1.9 RAD21 ZNF2 YY1 ZNF664 ZNF121 ZNF366 ZNF600 KLF8 ZFP37 REST FRA10AC1 LOC101927013 GC10P093720
GH10F093750 1.2 Ensembl ENCODE 25.1 -49.0 -48950 1.8 ZNF76 ETS1 FOSL1 ZNF664 POLR2A SCRT2 ZNF143 ZNF652 THAP11 SCRT1 FRA10AC1 RPL17P34 ENSG00000273450 NOC3L LOC101927013 GC10P093720
GH10F093742 1.1 Ensembl ENCODE 21 -40.2 -40230 1.2 SOX13 TFAP4 SAP130 CEBPG RAD21 YY1 TEAD3 ZNF121 HNF4G GATAD2A FRA10AC1 LOC101927013 GC10P093720
GH10F093719 1 Ensembl 20.3 -17.0 -17030 0.4 ATF1 EBF1 RAD21 ZNF766 HNF4G CREM HOMEZ MIXL1 NR2F1 REST FRA10AC1 GC10P093720
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FRA10AC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FRA10AC1 Gene

Chromosome:
10
Start:
93,667,883 bp from pter
End:
93,702,572 bp from pter
Size:
34,690 bases
Orientation:
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:
    Q70Z53-F10C1_HUMAN
    Recommended name:
    Protein FRA10AC1
    Protein Accession:
    Q70Z53
    Secondary Accessions:
    • C9JCR4
    • C9JCR5
    • C9JMY4
    • Q70Z49
    • Q70Z50
    • Q70Z51
    • Q70Z52
    • Q8N293
    • Q8WVH5
    • Q96JQ8

    Protein attributes for FRA10AC1 Gene

    Size:
    315 amino acids
    Molecular mass:
    37548 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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.
    SequenceCaution:
    • Sequence=AAK55529.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for FRA10AC1 Gene

    UniProtKB/Swiss-Prot:

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

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 Gene Families and UniProtKB/Swiss-Prot for FRA10AC1 Gene

Function 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for FRA10AC1 Gene COMPARTMENTS Subcellular localization image for FRA10AC1 gene
Compartment Confidence
nucleus 5
cytosol 1
extracellular 1
plasma membrane 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

Pathways & Interactions for FRA10AC1 Gene

SuperPathways for FRA10AC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRA10AC1 Gene

None

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - -
SP7:
SP8:

Relevant External Links for FRA10AC1 Gene

GeneLoc Exon Structure for
FRA10AC1
ECgene alternative splicing isoforms for
FRA10AC1

Expression for FRA10AC1 Gene

mRNA expression in normal human tissues 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:

FRA10AC1

SOURCE GeneReport for Unigene cluster for FRA10AC1 Gene:

Hs.586650

mRNA Expression by UniProt/SwissProt for FRA10AC1 Gene:

Q70Z53-F10C1_HUMAN
Tissue specificity: Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver.
genes like me logo Genes that share expression patterns with FRA10AC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia FRA10AC1 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia FRA10AC1 34 35
  • 93.08 (n)
cow
(Bos Taurus)
Mammalia FRA10AC1 34
  • 92.91 (n)
C26H10ORF4 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fra10ac1 34
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Fra10ac1 34 16 35
  • 86.35 (n)
oppossum
(Monodelphis domestica)
Mammalia FRA10AC1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRA10AC1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRA10AC1 34 35
  • 72.44 (n)
lizard
(Anolis carolinensis)
Reptilia FRA10AC1 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC147576 34
  • 68.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19509 34
zebrafish
(Danio rerio)
Actinopterygii fra10ac1 34 35
  • 67.43 (n)
wufc62g03 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010729 34
  • 50.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16890 34 35
  • 48.78 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C08H9.16 34
  • 53.43 (n)
C08H9.16 35
  • 36 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G15030 34
  • 58.19 (n)
rice
(Oryza sativa)
Liliopsida Os11g0639000 34
  • 54.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3424 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14549 34
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

ENSEMBL:
Gene Tree for FRA10AC1 (if available)
TreeFam:
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
rs10159893 -- 93,669,491(+) ataat(A/G)aaGGC downstream-variant-500B, utr-variant-3-prime
rs10509661 -- 93,679,616(+) ggtac(A/G)gagtg intron-variant
rs10509662 -- 93,680,159(+) AATAC(A/G)CAGTG intron-variant
rs10509663 -- 93,680,529(+) TGAAT(A/G)TATTA intron-variant
rs10554752 -- 93,694,744(+) AAAAA(-/A)GGCAC 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
FRA10AC1

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)
FRA10AC1
Human Genome Epidemiology (HuGE) Navigator
FRA10AC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FRA10AC1

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. … Gecz J. (Genomics 2004) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 Res. 2001) 3 4 64

Products for FRA10AC1 Gene

Sources for FRA10AC1 Gene

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