| Tbio | Protocadherin-19 |
Potential calcium-dependent cell-adhesion protein.
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 1.6e-06 |
| non-small cell lung cancer | 2890 | 1.7e-06 |
| ductal carcinoma in situ | 1745 | 2.4e-04 |
| invasive ductal carcinoma | 2951 | 2.5e-03 |
| group 4 medulloblastoma | 1855 | 3.7e-03 |
| atypical teratoid / rhabdoid tumor | 5112 | 4.1e-03 |
| astrocytic glioma | 2597 | 2.8e-02 |
| ependymoma | 4679 | 2.9e-02 |
| medulloblastoma, large-cell | 6241 | 3.0e-02 |
| glioblastoma | 5792 | 3.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 1016 | 4.602 | 2.3 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Glycine encephalopathy | 29 | 3.263 | 1.6 |
| Autistic Disorder | 364 | 3.006 | 1.5 |
| Disease | Target Count |
|---|---|
| Early infantile epileptic encephalopathy 9 | 1 |
| Epileptic Encephalopathy, Early Infantile, 6 | 8 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | -1.200 | 2.8e-02 |
| atypical teratoid / rhabdoid tumor | -2.100 | 4.1e-03 |
| ductal carcinoma in situ | -1.200 | 2.4e-04 |
| ependymoma | -1.500 | 2.9e-02 |
| glioblastoma | -1.500 | 3.4e-02 |
| group 4 medulloblastoma | -2.400 | 3.7e-03 |
| invasive ductal carcinoma | -1.148 | 2.5e-03 |
| medulloblastoma, large-cell | -2.300 | 3.0e-02 |
| non-small cell lung cancer | 1.481 | 1.7e-06 |
| ovarian cancer | 1.700 | 1.6e-06 |
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPH 1 - 70 LVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISE 71 - 140 AASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITA 141 - 210 LDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGY 211 - 280 VNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLS 281 - 350 VNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYN 351 - 420 LTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSY 421 - 490 QIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNT 491 - 560 PVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTF 561 - 630 GESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVA 631 - 700 IKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYG 701 - 770 HQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNT 771 - 840 RNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHE 841 - 910 ESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIR 911 - 980 SKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNS 981 - 1050 VIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEK 1051 - 1120 VMHEVSPILKEGRNKESPGVKRLKDIVL 1121 - 1148 //
