| Tbio | Taperin |
This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]
Comments
| 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 |
| 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 |
| 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 |
| 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 |
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 //
| 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. |
| More... |
