Property Summary

NCBI Gene PubMed Count 8
PubMed Score 6.12
PubTator Score 5.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
atypical teratoid/rhabdoid tumor 1095 5.31252694349866E-8
posterior fossa group A ependymoma 1511 7.39615091115155E-7
ulcerative colitis 2087 1.21656531773586E-4
adult high grade glioma 2148 0.0035713393170655
Disease Target Count Z-score Confidence
Nonsyndromic deafness 121 5.07 2.5
Disease Target Count Z-score Confidence
Sensorineural hearing loss 107 3.037 1.5
Disease Target Count
Deafness, Autosomal Recessive 79 1
Disease Target Count
Deafness, autosomal recessive, 79 1

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

Synonym

Accession Q4KMQ1 B7ZKU5 Q5VSG5 Q5VSG6 Q6IPP2 Q8NCH2
Symbols DFNB79
C9orf75

Gene

  Ortholog (6)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid

 GWAS Trait (1)

Pathway (1)

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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