| 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 | Z-score | Confidence |
|---|---|---|---|
| Deafness, Autosomal Recessive 79 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group A ependymoma | 468 | 7.4e-07 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.7e-06 |
| ulcerative colitis | 1819 | 1.2e-04 |
| adult high grade glioma | 3801 | 3.6e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nonsyndromic deafness | 142 | 5.004 | 2.5 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.100 | 3.6e-03 |
| atypical teratoid / rhabdoid tumor | -1.200 | 2.7e-06 |
| posterior fossa group A ependymoma | -1.100 | 7.4e-07 |
| ulcerative colitis | -1.100 | 1.2e-04 |
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 //
