Property Summary

NCBI Gene PubMed Count 33
Grant Count 5
Funding $239,811.66
PubMed Score 46.61
PubTator Score 23.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
Multiple myeloma 1.310 0.013
astrocytic glioma -1.600 0.004
ependymoma -1.300 0.047
oligodendroglioma -1.700 0.011
osteosarcoma -1.026 0.009
glioblastoma -1.300 0.000
intraductal papillary-mucinous adenoma (... -1.300 0.003
lung cancer 1.100 0.001
interstitial cystitis -1.200 0.000
sonic hedgehog group medulloblastoma 1.600 0.001
non primary Sjogren syndrome sicca 1.200 0.024
spina bifida -1.448 0.048
ovarian cancer 1.900 0.000

 GWAS Trait (1)

Gene RIF (11)

PMID Text
25790162 We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS.
25348728 Whole exome sequencing identified a nonsynonymous mutation in POLR1D (subunit of RNA polymerase I and II): exon2:c.T332C:p.L111P.
24690222 Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS
24603435 Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
21131976 heterozygous mutations of POLR1D in 252 individuals with Treacher Collins syndrome
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
19834535 Observational study of gene-disease association. (HuGE Navigator)
19724895 Observational study of gene-disease association. (HuGE Navigator)
12446911 analyzed the kinetics of assembly and elongation of the RNA polymerase I complex on endogenous ribosomal genes in the nuclei of living cells with the use of in vivo microscopy
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AA Sequence

MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIMKNPEVEFCGY      1 - 70
TTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKDYKDQKASRNESTF            71 - 133
//

Text Mined References (37)

PMID Year Title
25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
25416956 2014 A proteome-scale map of the human interactome network.
25348728 2015 Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
24690222 2014 Treacher Collins Syndrome: the genetics of a craniofacial disease.
24603435 2014 Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21471979 2011 Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.
21269460 2011 Initial characterization of the human central proteome.
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