Property Summary

NCBI Gene PubMed Count 6
PubMed Score 1.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma 1.200 1.0e-03
oligodendroglioma 1.300 1.2e-03
glioblastoma 1.100 2.9e-04
group 4 medulloblastoma 1.400 1.2e-03
atypical teratoid / rhabdoid tumor 1.400 2.2e-04
primitive neuroectodermal tumor 1.100 3.6e-04
juvenile dermatomyositis 1.065 5.4e-12
adrenocortical carcinoma 1.075 2.4e-03
pilocytic astrocytoma 1.100 4.5e-04
ovarian cancer 1.400 9.2e-04

 GO Function (1)

 GO Component (1)

Gene RIF (1)

PMID Text
26365341 RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia.

AA Sequence

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
//

Text Mined References (8)

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.