Property Summary

NCBI Gene PubMed Count 8
Grant Count 2
Funding $904,626.08
PubMed Score 6.12
PubTator Score 5.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
atypical teratoid/rhabdoid tumor -1.500 0.000
adult high grade glioma -1.100 0.004
posterior fossa group A ependymoma -1.100 0.000
ulcerative colitis -1.100 0.000

Gene RIF (3)

PMID Text
23340767 A Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN.
20170899 Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
20170898 genome-wide homozygosity mapping in a Moroccan family; mapped autosomal-recessive nonsyndromic hearing loss to DFNB79 locus on chromosome 9q34; identified a causative homozygous 11 bp deletion, c.42_52del, in TPRN gene in affected individuals

AA Sequence

MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENPFMLLEAERRR      1 - 70
GGGAAGARLLERYRRVPGVRALRADSVLIIETVPGFPPAPPAPGAAQIRAAEVLVYGAPPGRVSRLLERF     71 - 140
DPPAAPRRRGSPERARPPPPPPPPAPPRPPPAAPSPPAAPGPRGGGASPGARRSDFLQKTGSNSFTVHPR    141 - 210
GLHRGAGARLLSNGHSAPEPRAGPANRLAGSPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASAT    211 - 280
PSQRQCVSAATSTNDSFEIRPAPKPVMETIPLGDLQARALASLRANSRNSFMVIPKSKASGAPPPEGRQS    281 - 350
VELPKGDLGPASPSQELGSQPVPGGDGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPP    351 - 420
PFLPAASEEAEPAEGLRVPGLAKNSREYVRPGLPVTFIDEVDSEEAPQAAKLPYLPHPARPLHPARPGCV    421 - 490
AELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPRPREAEEEEASCLLGPTLKKRYPTVHEIEVIGGYLA    491 - 560
LQKSCLTKAGSSRKKMKISFNDKSLQTTFEYPSESSLEQEEEVDQQEEEEEEEEEEEEEEEGSGSEEKPF    561 - 630
ALFLPRATFVSSVRPESSRLPEGSSGLSSYTPKHSVAFSKWQEQALEQAPREAEPPPVEAMLTPASQNDL    631 - 700
SDFRSEPALYF                                                               701 - 711
//

Text Mined References (15)

PMID Year Title
23340767 2013 The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20170899 2010 Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
20170898 2010 Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19603065 2010 DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
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