Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
facioscapulohumeral dystrophy 286

AA Sequence

MAGGEAGVTLGQPHLSRQDLTTLDVTKLTPLSHEVISRQATINIGTIGHVAHGKSTVVKAISGVHTVRFK      1 - 70
NELERNITIKLGYANAKIYQLDDPSCPRPECYRSCGSSMPDEFPTDIPGTKGNFRLVRHVSFVDCPGHDI     71 - 140
LMATMLNGAAVMDAALLLIAGNESCPQPQTSEHLAAIEIMKLKHILILQNKIDLVKERQAKEQYEQILAF    141 - 210
VQGTVAEGAPIIPISAQLKYNIEVVCEYIVKKIPVPPRDFTSEPRLIVIRSFDVNKPGCEVDDLKGGVAG    211 - 280
GSILKGVLKVGQETEVRPGIVSKDSEGKLMCKSIFSKIVSLFAEHNDLQYAAPGGLIGVGTKIDPTLCRA    281 - 350
DRMVGQILGAVGALPEIFTELEISYFLLRRLLGVRTEGDKKAAKVQKLSKNEVLMVNIGSLSTGGRVSAV    351 - 420
KADLGKIVLTNPVCTEVGEKIALSRRVEKHWRLIGWGQIRRGVTIKPTVDDD                      421 - 472
//

Text Mined References (4)

PMID Year Title
16541075 2006 The finished DNA sequence of human chromosome 12.
16201836 2005 Emergence of young human genes after a burst of retroposition in primates.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
9736774 1998 Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution.