Property Summary

NCBI Gene PubMed Count 7
Grant Count 5
Funding $79,232.67
PubMed Score 2.44
PubTator Score 4.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.756 0.000
posterior fossa group B ependymoma 2.100 0.000
nasopharyngeal carcinoma -1.400 0.000
invasive ductal carcinoma 1.300 0.012

Gene RIF (2)

PMID Text
22818856 Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
20237496 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQI      1 - 70
TTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSD     71 - 140
DHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLAT    141 - 210
QAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLED    211 - 280
IRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHRED    281 - 350
QHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNF    351 - 420
LSYRSTWTSTWAGTSTKS                                                        421 - 438
//

Text Mined References (9)

PMID Year Title
24075808 2013 Deuterosome-mediated centriole biogenesis.
22818856 2012 Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11157797 2001 Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.