| Tdark | RING finger and SPRY domain-containing protein 1 |
This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1189 | 5.446801460216E-12 |
| atypical teratoid / rhabdoid tumor | 4369 | 2.15148770606721E-4 |
| glioblastoma | 5572 | 2.920761393271E-4 |
| primitive neuroectodermal tumor | 3031 | 3.5551339578129E-4 |
| pilocytic astrocytoma | 3086 | 4.47567923954347E-4 |
| ovarian cancer | 8492 | 9.19423445277633E-4 |
| astrocytic glioma | 2241 | 0.00101578120611274 |
| oligodendroglioma | 2849 | 0.00117237901132977 |
| group 4 medulloblastoma | 1875 | 0.00120275879142449 |
| adrenocortical carcinoma | 1427 | 0.00243967578718277 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 573 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Spondyloepimetaphyseal dysplasia | 9 | 3.789 | 1.9 |
| Disease | Target Count |
|---|---|
| Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | 1 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | 1.200 | 0.001 |
| oligodendroglioma | 1.300 | 0.001 |
| glioblastoma | 1.100 | 0.000 |
| group 4 medulloblastoma | 1.400 | 0.001 |
| atypical teratoid / rhabdoid tumor | 1.400 | 0.000 |
| primitive neuroectodermal tumor | 1.100 | 0.000 |
| juvenile dermatomyositis | 1.065 | 0.000 |
| adrenocortical carcinoma | 1.075 | 0.002 |
| pilocytic astrocytoma | 1.100 | 0.000 |
| ovarian cancer | 1.400 | 0.001 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| C. elegans | OMA EggNOG |
| PMID | Text |
|---|---|
| 26365341 | RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia. |
MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSCICRDDSGTDDSVDTQQQQAENSAVPT 1 - 70 ADTRSQPRDPVRPPRRGRGPHEPRRKKQNVDGLVLDTLAVIRTLVDNDQEPPYSMITLHEMAETDEGWLD 71 - 140 VVQSLIRVIPLEDPLGPAVITLLLDECPLPTKDALQKLTEILNLNGEVACQDSSHPAKHRNTSAVLGCLA 141 - 210 EKLAGPASIGLLSPGILEYLLQCLKLQSHPTVMLFALIALEKFAQTSENKLTISESSISDRLVTLESWAN 211 - 280 DPDYLKRQVGFCAQWSLDNLFLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKISPHGLEARCDASSFESV 281 - 350 RCTFCVDAGVWYYEVTVVTSGVMQIGWATRDSKFLNHEGYGIGDDEYSCAYDGCRQLIWYNARSKPHIHP 351 - 420 CWKEGDTVGFLLDLNEKQMIFFLNGNQLPPEKQVFSSTVSGFFAAASFMSYQQCEFNFGAKPFKYPPSMK 421 - 490 FSTFNDYAFLTAEEKIILPRHRRLALLKQVSIRENCCSLCCDEVADTQLKPCGHSDLCMDCALQLETCPL 491 - 560 CRKEIVSRIRQISHIS 561 - 576 //
| PMID | Year | Title |
|---|---|---|
| 26365341 | 2015 | Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. |
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. |
| 12975309 | 2003 | The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
| 11853319 | 2001 | Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. |
