Property Summary

NCBI Gene PubMed Count 13
PubMed Score 22.17
PubTator Score 28.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.382 2.9e-05
medulloblastoma, large-cell 1.100 3.1e-04

Gene RIF (6)

PMID Text
26701950 TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins.
24938831 A novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia
21468723 TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family.
21383226 The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54.
20956791 We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype.
18711368 In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex.

AA Sequence

MEPEPEPAAVEVPAGRVLSARELFAARSRSQKLPQRSHGPKDFLPDGSAAQAERLRRCREELWQLLAEQR      1 - 70
VERLGSLVAAEWRPEEGFVELKSPAGKFWQTMGFSEQGRQRLHPEEALYLLECGSIHLFHQDLPLSIQEA     71 - 140
YQLLLTDHTVTFLQYQVFSHLKRLGYVVRRFQPSSVLSPYERQLNLDASVQHLEDGDGKRKRSSSSPRSI    141 - 210
NKKAKALDNSLQPKSLAASSPPPCSQPSQCPEEKPQESSPMKGPGGPFQLLGSLGPSPGPAREGVGCSWE    211 - 280
SGRAENGVTGAGKRRWNFEQISFPNMASDSRHTLLRAPAPELLPANVAGRETDAESWCQKLNQRKEKLSR    281 - 350
REREHHAEAAQFQEDVNADPEVQRCSSWREYKELLQRRQVQRSQRRAPHLWGQPVTPLLSPGQASSPAVV    351 - 420
LQHISVLQTTHLPDGGARLLEKSGGLEIIFDVYQADAVATFRKNNPGKPYARMCISGFDEPVPDLCSLKR    421 - 490
LSYQSGDVPLIFALVDHGDISFYSFRDFTLPQDVGH                                      491 - 526
//

Text Mined References (22)

PMID Year Title
26701950 TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
25416956 2014 A proteome-scale map of the human interactome network.
24938831 2014 A familial late?onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23307886 2014 Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21824568 2011 Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.
21468723 2011 TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
21383226 2011 Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
21368912 2011 TSEN54 mutations cause pontocerebellar hypoplasia type 5.
20956791 2010 Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18711368 2008 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17495927 2007 The human RNA kinase hClp1 is active on 3' transfer RNA exons and short interfering RNAs.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15109492 2004 Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation.
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.