| Tbio | Regulating synaptic membrane exocytosis protein 1 |
Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Autistic Disorder | 364 | 0.0 | 0.0 |
| Cone-Rod Dystrophy 7 | 1 | 0.0 | 0.0 |
| Neurodevelopmental Disorders | 70 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 3.7e-17 |
| glioblastoma | 5792 | 2.6e-08 |
| atypical teratoid / rhabdoid tumor | 5112 | 3.9e-08 |
| Astrocytoma, Pilocytic | 3081 | 2.7e-05 |
| medulloblastoma, large-cell | 6241 | 1.9e-04 |
| adult high grade glioma | 3801 | 9.5e-04 |
| astrocytic glioma | 2597 | 1.2e-03 |
| Pick disease | 1894 | 1.7e-03 |
| primitive neuroectodermal tumor | 3035 | 3.1e-03 |
| oligodendroglioma | 2850 | 3.3e-03 |
| subependymal giant cell astrocytoma | 2287 | 4.6e-03 |
| ependymoma | 4679 | 1.3e-02 |
| head and neck cancer and chronic obstructive pulmonary disease | 239 | 2.5e-02 |
| group 3 medulloblastoma | 4104 | 3.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Partial central choroid dystrophy | 11 | 3.942 | 2.0 |
| Fundus dystrophy | 83 | 3.85 | 1.9 |
| Congenital myasthenic syndrome 4C | 9 | 3.767 | 1.9 |
| Stargardt disease | 6 | 3.338 | 1.7 |
| Pneumonic plague | 1 | 3.176 | 1.6 |
| Disease | Target Count |
|---|---|
| cone-rod dystrophy | 59 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -2.200 | 9.5e-04 |
| astrocytic glioma | -3.300 | 1.2e-03 |
| Astrocytoma, Pilocytic | -1.800 | 2.7e-05 |
| atypical teratoid / rhabdoid tumor | -1.800 | 3.9e-08 |
| ependymoma | -1.400 | 1.3e-02 |
| glioblastoma | -2.000 | 2.6e-08 |
| group 3 medulloblastoma | -1.700 | 3.0e-02 |
| head and neck cancer and chronic obstruc... | -1.100 | 2.5e-02 |
| medulloblastoma, large-cell | -1.600 | 1.9e-04 |
| oligodendroglioma | -2.900 | 3.3e-03 |
| Pick disease | -1.400 | 1.7e-03 |
| primitive neuroectodermal tumor | -1.500 | 3.1e-03 |
| psoriasis | -1.400 | 3.7e-17 |
| subependymal giant cell astrocytoma | -1.972 | 4.6e-03 |
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTP 1 - 70 RNAENQPHQPSPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFC 71 - 140 ARCGGRVSLRSNNEDKVVMWVCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKA 141 - 210 RLQERSRSQTPLSTAAASSQDAAPPSAPPDRSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQ 211 - 280 NGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLEKGRSQDYPDTPEKRDEGKAADEEKQRKEED 281 - 350 YQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEAGAALPEGKAGKRAPAAARAS 351 - 420 PPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSSAVLMRKAKRE 421 - 490 KVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKG 491 - 560 DLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGR 561 - 630 LGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIP 631 - 700 ESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLP 701 - 770 ARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQE 771 - 840 EESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDIS 841 - 910 DYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDE 911 - 980 IHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRHLVRHYKTLPP 981 - 1050 KMPLLQSSSHWNIYSSILPAHTKTKSVTRQDISLHHECFNSTVLRFTDEILVSELQPFLDRARSASTNCL 1051 - 1120 RPDTSLHSPERERGRWSPSLDRRRPPSPRIQIQHASPENDRHSRKSERSSIQKQTRKGTASDAERVLPTC 1121 - 1190 LSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVPGGSAPPSPLLTRMHRQRSPTQSPPAD 1191 - 1260 TSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYR 1261 - 1330 SCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTS 1331 - 1400 VSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRST 1401 - 1470 ETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMG 1471 - 1540 DIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVF 1541 - 1610 DESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSS 1611 - 1680 LESSTGPPCIRS 1681 - 1692 //
