Property Summary

NCBI Gene PubMed Count 6
PubMed Score 1.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

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

Expression

  Differential Expression (10)

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

Synonym

Accession Q96DX4 Q6UX21 Q8ND53
Symbols SEMDFA

Gene

PANTHER Protein Class (2)

  Ortholog (11)

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

 GO Function (1)

 GO Component (1)

Pathway (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.