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  5. Protein FRA10AC1

Tdark Protein FRA10AC1

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]

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Property Summary

NCBI Gene PubMed Count 12
PubMed Score 3.47
PubTator Score 1.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Disease Z-score Confidence
adult high grade glioma 2,148
osteosarcoma 7,933

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.049 0.000
adult high grade glioma -1.100 0.001

Synonym

Accession Q70Z53 C9JCR4 C9JCR5 C9JMY4 Q70Z49 Q70Z50 Q70Z51 Q70Z52 Q8N293 Q8WVH5 Q96JQ8
Symbols FRA10A
C10orf4
F26C11.1-like

Gene

FRA10AC1

PANTHER Protein Class (2)

 GO Component (1)

 Compartment GO Term (10)

Pathway (1)

 UniProt Keyword (7)

Gene RIF (2)

PMID Text
26252872 variants in FRA10AC1 associated with CSF Abeta1-42 level passing the genome-wide significance threshold, were identified.
16385451 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MHGHGGYDSDFSDDERCGESSKRKKRTVEDDLLLQKPFQKEKHGKVAHKQVAAELLDREEARNRRFHLIA      1 - 70
MDAYQRHTKFVNDYILYYGGKKEDFKRLGENDKTDLDVIRENHRFLWNEEDEMDMTWEKRLAKKYYDKLF     71 - 140
KEYCIADLSKYKENKFGFRWRVEKEVISGKGQFFCGNKYCDKKEGLKSWEVNFGYIEHGEKRNALVKLRL    141 - 210
CQECSIKLNFHHRRKEIKSKKRKDKTKKDCEESSHKKSRLSSAEEASKKKDKGHSSSKKSEDSLLRNSDE    211 - 280
EESASESELWKGPLPETDEKSQEEEFDEYFQDLFL                                       281 - 315
//

Text Mined References (17)

PMID Year Title
26252872 2015 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid A?1-42 Level.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
21269460 2011 Initial characterization of the human central proteome.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
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