| Tbio | Transcription factor SOX-8 |
May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity).
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Peripheral Nervous System Diseases | 52 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Peripheral Neuropathy | 134 |
| Disease | Target Count | P-value |
|---|---|---|
| Astrocytoma, Pilocytic | 3081 | 6.5e-08 |
| Breast cancer | 3578 | 3.0e-07 |
| medulloblastoma, large-cell | 6241 | 8.9e-05 |
| group 3 medulloblastoma | 4104 | 2.0e-04 |
| psoriasis | 6694 | 2.4e-03 |
| breast carcinoma | 1638 | 4.4e-03 |
| ependymoma | 4679 | 4.5e-03 |
| oligodendroglioma | 2850 | 5.6e-03 |
| invasive ductal carcinoma | 2951 | 8.9e-03 |
| subependymal giant cell astrocytoma | 2287 | 9.2e-03 |
| astrocytic glioma | 2597 | 1.8e-02 |
| Pick disease | 1894 | 2.8e-02 |
| atypical teratoid / rhabdoid tumor | 5112 | 3.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Campomelic dysplasia | 7 | 3.99 | 2.0 |
| Myoblastoma | 4 | 3.95 | 2.0 |
| Alpha thalassemia | 10 | 3.462 | 1.7 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | 2.600 | 1.8e-02 |
| Astrocytoma, Pilocytic | 2.200 | 6.5e-08 |
| atypical teratoid / rhabdoid tumor | -1.300 | 3.9e-02 |
| Breast cancer | -1.700 | 3.0e-07 |
| breast carcinoma | -1.400 | 4.4e-03 |
| ependymoma | -1.600 | 4.5e-03 |
| group 3 medulloblastoma | -3.200 | 2.0e-04 |
| invasive ductal carcinoma | -1.294 | 8.9e-03 |
| medulloblastoma, large-cell | -3.400 | 8.9e-05 |
| oligodendroglioma | 3.100 | 5.6e-03 |
| Pick disease | -1.100 | 2.8e-02 |
| psoriasis | -1.100 | 2.4e-03 |
| subependymal giant cell astrocytoma | -3.138 | 9.2e-03 |
MLDMSEARSQPPCSPSGTASSMSHVEDSDSDAPPSPAGSEGLGRAGVAVGGARGDPAEAADERFPACIRD 1 - 70 AVSQVLKGYDWSLVPMPVRGGGGGALKAKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLW 71 - 140 RLLSESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSAKAGHSDSDSGAELGPHPGGGAVYKAEAGLGD 141 - 210 GHHHGDHTGQTHGPPTPPTTPKTELQQAGAKPELKLEGRRPVDSGRQNIDFSNVDISELSSEVMGTMDAF 211 - 280 DVHEFDQYLPLGGPAPPEPGQAYGGAYFHAGASPVWAHKSAPSASASPTETGPPRPHIKTEQPSPGHYGD 281 - 350 QPRGSPDYGSCSGQSSATPAAPAGPFAGSQGDYGDLQASSYYGAYPGYAPGLYQYPCFHSPRRPYASPLL 351 - 420 NGLALPPAHSPTSHWDQPVYTTLTRP 421 - 446 //
