Property Summary

NCBI Gene PubMed Count 8
PubMed Score 0.10
PubTator Score 0.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
osteosarcoma 7933 6.5e-04
Disease Target Count Z-score Confidence
Williams-Beuren syndrome 45 5.037 2.5

Synonym

Accession Q96LL9 Q9BSG8
Symbols WBSCR18

Gene

PDB

2YUA  

  Ortholog (1)

Species Source Disease
Macaque OMA EggNOG Inparanoid

 GO Component (1)

 Compartment GO Term (1)

Gene RIF (1)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTATQAQIKAAYY      1 - 70
RQCFLYHPDRNSGSAEAAERFTRISQAYVVLGSATLRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRT     71 - 140
PPPTSRTHDGSRASPGANRTMFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKGLRWEDTRDTA    141 - 210
AIFLIFSIFIIIGFYI                                                          211 - 226
//

Text Mined References (8)

PMID Year Title
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231747 2004 A protein interaction framework for human mRNA degradation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12073013 2002 Identification of additional transcripts in the Williams-Beuren syndrome critical region.