Property Summary

NCBI Gene PubMed Count 11
Grant Count 3
R01 Count 3
Funding $142,226.11
PubMed Score 3.41
PubTator Score 4.13

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma -1.984 0.000
posterior fossa group B ependymoma 4.800 0.000
glioblastoma -1.100 0.001
medulloblastoma, large-cell -1.200 0.000
adult high grade glioma -1.400 0.001
group 4 medulloblastoma -1.100 0.005
nasopharyngeal carcinoma -2.800 0.000
chronic rhinosinusitis -1.854 0.017
psoriasis -2.000 0.000

Synonym

Accession Q96M63 Q6ZRL4 Q96M06 Q9UFG8
Symbols CILD20

Gene

Gene RIF (4)

PMID Text
23261303 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
23261302 These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MEGERRAYSKEVHQRINKQLEEIRRLEEVRGDLQVQISAAQNQVKRLRDSQRLENMDRLLKGRAQVQAEI      1 - 70
EELQEQTRALDKQIQEWETRIFTHSKNVRSPGFILDQKVKIRRRIRILENQLDRVTCHFDNQLVRNAALR     71 - 140
EELDLLRIDRNRYLNVDRKLKKEIHHLHHLVSTLILSSTSAYAVREEAKAKMGLLRERAEKEEAQSEMEA    141 - 210
QVLQRQILHLEQLHHFLKLKNNDRQPDPDVLEKREKQAGEVAEGVWKTSQERLVLCYEDALNKLSQLMGE    211 - 280
SDPDLLVQKYLEIEERNFAEFNFINEQNLELEHVQEEIKEMQEALVSARASKDDQHLLQEQQQKVLQQRM    281 - 350
DKVHSEAERLEARFQDVRGQLEKLKADIQLLFTKAHCDSSMIDDLLGVKTSMGDRDMGLFLSLIEKRLVE    351 - 420
LLTVQAFLHAQSFTSLADAALLVLGQSLEDLPKKMAPLQPPDTLEDPPGFEASDDYPMSREELLSQVEKL    421 - 490
VELQEQAEAQRQKDLAAAAAKLDGTLSVDLASTQRAGSSTVLVPTRHPHAIPGSILSHKTSRDRGSLGHV    491 - 560
TFGGLSSSTGHLPSHITHGDPNTGHVTFGSTSASSGGHVTFRPVSASSYLGSTGYVGSSRGGENTEGGVE    561 - 630
SGGTASDSSGGLGSSRDHVSSTGPASSTGPGSSTSKDSRG                                  631 - 670
//

Text Mined References (13)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
23506398 2013 Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia.
23261303 2013 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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).
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