Property Summary

NCBI Gene PubMed Count 6
PubMed Score 0.33
PubTator Score 0.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (1)

Disease Target Count Z-score Confidence
Williams-Beuren syndrome 45 4.983 2.5

Expression

Gene RIF (1)

PMID Text
18398435 Maps within the critical region of Williams-Beuren syndrome.

AA Sequence

MAWQVSLLELEDRLQCPICLEVFKESLMLQCGHSYCKGCLVSLSYHLDTKVRCPMCWQVVDGSSSLPNVS      1 - 70
LAWVIEALRLPGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVCSRMKEELAALF     71 - 140
SELKQEQKKVDELIAKLVKNRTRIVNESDVFSWVIRREFQELRHPVDEEKARCLEGIGGHTRGLVASLDM    141 - 210
QLEQAQGTRERLAQAECVLEQFGNEDHHEFIWKFHSMASR                                  211 - 250
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Text Mined References (6)

PMID Year Title
18398435 2008 Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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.
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.