Property Summary

NCBI Gene PubMed Count 33
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 1.3e-02
astrocytic glioma -1.600 4.2e-03
ependymoma -1.300 4.7e-02
oligodendroglioma -1.700 1.1e-02
osteosarcoma -1.026 9.0e-03
glioblastoma -1.300 9.3e-06
intraductal papillary-mucinous adenoma (... -1.300 3.4e-03
lung cancer 1.100 1.2e-03
interstitial cystitis -1.200 1.7e-04
sonic hedgehog group medulloblastoma 1.600 1.5e-03
non primary Sjogren syndrome sicca 1.200 2.4e-02
spina bifida -1.448 4.8e-02
ovarian cancer 1.900 1.4e-05

 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
8955128 Characterization of the homologous mouse protein.

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.
21131976 2011 Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
19724895 2009 Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19359472 2009 Association of survival and disease progression with chromosomal instability: a genomic exploration of colorectal cancer.
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.
17205138 2006 Maf1, a new player in the regulation of human RNA polymerase III transcription.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14743216 2004 A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12646563 2003 Rrn3 becomes inactivated in the process of ribosomal DNA transcription.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446911 2002 A kinetic framework for a mammalian RNA polymerase in vivo.
12393749 2002 Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter.
12391170 2002 Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
9582279 1998 Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes.
9110174 1997 Large-scale concatenation cDNA sequencing.
8955128 1996 Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III.
8619474 1996 A "double adaptor" method for improved shotgun library construction.