Property Summary

NCBI Gene PubMed Count 10
PubMed Score 2.19
PubTator Score 2.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
posterior fossa group B ependymoma 2.000 0.000
psoriasis -1.100 0.000

Synonym

Accession A5D8V7 B4DXT0 Q96CG5
Symbols CILD30

Gene

Gene RIF (2)

PMID Text
25224326 observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry
25192045 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

AA Sequence

MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQ      1 - 70
VAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKP     71 - 140
YLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLE    141 - 210
NRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAK    211 - 280
NQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRW    281 - 350
SMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSG    351 - 420
EATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDP    421 - 490
QADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDE    491 - 560
ESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS                                       561 - 595
//

Text Mined References (11)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25224326 2014 Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
24088566 2013 Chlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assembly.
24067530 2014 The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.
23455924 2013 A Y2H-seq approach defines the human protein methyltransferase interactome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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