Basic information
Official Symbol RYBP
DescriptionRING1 and YY1 binding protein
Other AliasesAAP1, DEDAF, YEAF1
Other DescriptionAPAP-1; DED-associated factor; RING1 and YY1-binding protein; YY1 and E4TF1 associated factor 1; YY1 and E4TF1-associated factor 1; apoptin-associating protein 1; death effector domain-associated factor; ring1 interactor RYBP
Mutation typeInsert and frame-shift 61-62:L-D^C, Insert and frame-shift 78-79:S-P^C
LocationScaffold000570_1:590915 671304 +

  ±  bp flank
WikiWikipedia GeneCard
Sequence
RYBP
CTTCCTGCGCCCGCCGCGGCCCTTCCCGGGGGCGCCGCCGCCGCCGCCGT
CGCCGTCGCCTGGTGTGCGAGGCAGTCCGGCCCGGCCCCGGGTGCCGGTG
GGGGAGCCCAGTTTCCTGCCCCGTTCCCTCTTCCAGCCCCCGAAGAGGGT
AGGTGGGTGGTCGCCCGAGCGAAGTTTCCAGCAGATTTCGGCGAAATTAC
GACGGCTCACCAGCGCCTGTGTTTTGCTGTCTCTCCCCCTTTTTCCTGTT
CCCTGTCTGTTCCCTCCCCTTTCTCCCACTCCCCACTCCTCCGAAGGCCA
AAAAGACAAGCGAAACCTGCGGCAGACGAAGGCTTTTGGGATTGTAGCGT
CTGCACCTTCAGGAACAGCGCCGAAGCCTTTAAATGCAGCATCTGCGATG
TGAGGAAAGGCACCTCCACCAGAAAACCTCGGATCAATTCTCAGCTGGTG
GCACAACAGGTAGCACAGCAGTATGCCACTCCACCTCCCCCTAAGAAGGA
GAAGAAGGAGAAGGTGGAAAAGCAAGACAAAGAGAAACCTGAGAAAGATA
AGGAAATCAGTCCTAGTGTTACCAAGAAAAATACCAACAAAAAAACAAAA
CCAAAGTCCGATATTCTGAAAGACCCTCCTAGCGAAGCAAACAGTATACA
GTCTGCAAATGCTACAACAAAGACCAGCGACACGAATCACACCTCAAGGC
CCCGGCTGAAAAACGTGGACAGGAGCACTGCACAGCAGTTGGCAGTAACT
GTGGGCAACGTCACCGTCATTATCACAGACTTTAAAGAAAAGACTCGCTC
CTCCTCGACGTCATCATCCACAGTGACCTCCAGTGCAGGGTCAGAACAGC
AGAACCAGAGCAGCTCGGGGTCAGAGAGCACAGACAAGGGCTCCTCCCGT
TCGTCCACGCCAAAAGGCGACATGTCAGCAGTAAATGATGAATCTTTC

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human3161316Insert and frame-shift 61-62:L-D^C, Insert and frame-shift 78-79:S-P^C
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
 LeuProAlaProAlaAlaAlaLeuProGlyAlaProProProProProGlyValArgGly
 ||||||||||||||||||||||||||||||                              
 LeuProAlaProAlaAlaAlaLeuProGlyGlyAlaAlaAlaAlaAlaValAlaValAla
 CTTCCTGCGCCCGCCGCGGCCCTTCCCGGGGGCGCCGCCGCCGCCGCCGTCGCCGTCGCC

 TyrProAlaArgAlaArgGly<->LeuGlnGlyAlaSerGlyGlyAlaArgPheProSer
       ||||||      |||         ||||||   |||||||||   ||||||   
 TrpCysAlaArgGlnSerGlyProAlaProGlyAlaGlyGlyGlyAlaGlnPheProAla
 TGGTGTGCGAGGCAGTCCGGCCCGGCCCCGGGTGCCGGTGGGGGAGCCCAGTTTCCTGCC

 SerLeuSerLeuProValProGlyLysGlyGlyTrpValValSerArgAlaLysPhePro
          ||||||   |||      |||   |||||||||   |||||||||||||||
 ProPheProLeuProAlaProGluGluGlyArgTrpValValAlaArgAlaLysPhePro
 CCGTTCCCTCTTCCAGCCCCCGAAGAGGGTAGGTGGGTGGTCGCCCGAGCGAAGTTTCCA

 AlaLeu-AspSerCysGluIleThrThrAlaHisProArgLeuCysPheAlaValSer-P
 |||   #|||      ||||||||||||||||||   |||||||||||||||||||||#|
 Ala---#AspPheGlyGluIleThrThrAlaHisGlnArgLeuCysPheAlaValSer#P
 GCA---CGATTTCGGCGAAATTACGACGGCTCACCAGCGCCTGTGTTTTGCTGTCTCTCC

 roProPheSerCysSerLeuProLeuProSerLeuPheProHisSerProLeuLeuGlyA
 ||||||||||||||||||||      ||||||   |||   |||||||||||||||   |
 roProPheSerCysSerLeuSerValProSerProPheSerHisSerProLeuLeuArgA
 CCCCTTTTTCCTGTTCCCTGTCTGTTCCCTCCCCTTTCTCCCACTCCCCACTCCTCCGAA

 rgProLysArgGlnAlaLysProAlaAlaAspGluGlyPheTrpAspCysSerValCysT
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 rgProLysArgGlnAlaLysProAlaAlaAspGluGlyPheTrpAspCysSerValCysT
 GGCCAAAAAGACAAGCGAAACCTGCGGCAGACGAAGGCTTTTGGGATTGTAGCGTCTGCA

 hrPheArgAsnSerAlaGluAlaPheLysCysSerIleCysAspValArgLysGlyThrS
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 hrPheArgAsnSerAlaGluAlaPheLysCysSerIleCysAspValArgLysGlyThrS
 CCTTCAGGAACAGCGCCGAAGCCTTTAAATGCAGCATCTGCGATGTGAGGAAAGGCACCT

 erThr{Ar}  >>>> Target Intron 1 >>>>  {g}LysProArgIleAsnSerG
 |||||{||}           78938 bp          {|}|||||||||||||||||||
 erThr{Ar}++                         ++{g}LysProArgIleAsnSerG
 CCACC{AG}gt                         ag{A}AAACCTCGGATCAATTCTC

 lnLeuValAlaGlnGlnValAlaGlnGlnTyrAlaThrProProProProLysLysGluL
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 lnLeuValAlaGlnGlnValAlaGlnGlnTyrAlaThrProProProProLysLysGluL
 AGCTGGTGGCACAACAGGTAGCACAGCAGTATGCCACTCCACCTCCCCCTAAGAAGGAGA

 ysLysGluLysValGluLysGlnAspLysGluLysProGluLysAspLysGluIleSerP
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 ysLysGluLysValGluLysGlnAspLysGluLysProGluLysAspLysGluIleSerP
 AGAAGGAGAAGGTGGAAAAGCAAGACAAAGAGAAACCTGAGAAAGATAAGGAAATCAGTC

 roSerValThrLysLysAsnThrAsnLysLysThr{Ly}  >>>> Target Intron 
 |||||||||||||||||||||||||||||||||||{||}            93 bp    
 roSerValThrLysLysAsnThrAsnLysLysThr{Ly}++                   
 CTAGTGTTACCAAGAAAAATACCAACAAAAAAACA{AA}gt                   

 2 >>>>  {s}ProLysSerAspIleLeuLysAspProProSerGluAlaAsnSerIleG
         {|}|||||||||||||||||||||||||||||||||||||||||||||||||
       ++{s}ProLysSerAspIleLeuLysAspProProSerGluAlaAsnSerIleG
       ag{A}CCAAAGTCCGATATTCTGAAAGACCCTCCTAGCGAAGCAAACAGTATAC

 lnSerAlaAsnAlaThrThrLysThrSerGluThrAsnHisThrSer{Ar}  >>>> Ta
 |||||||||||||||||||||||||||||   |||||||||||||||{||}         
 lnSerAlaAsnAlaThrThrLysThrSerAspThrAsnHisThrSer{Ar}++       
 AGTCTGCAAATGCTACAACAAAGACCAGCGACACGAATCACACCTCA{AG}gt       

 rget Intron 3 >>>>  {g}ProArgLeuLysAsnValAspArgSerThrAlaGlnG
    409 bp           {|}|||||||||||||||||||||||||||||||||||||
                   ++{g}ProArgLeuLysAsnValAspArgSerThrAlaGlnG
                   ag{G}CCCCGGCTGAAAAACGTGGACAGGAGCACTGCACAGC

 lnLeuAlaValThrValGlyAsnValThrValIleIleThrAspPheLysGluLysThrA
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 lnLeuAlaValThrValGlyAsnValThrValIleIleThrAspPheLysGluLysThrA
 AGTTGGCAGTAACTGTGGGCAACGTCACCGTCATTATCACAGACTTTAAAGAAAAGACTC

 rgSerSerSerThrSerSerSerThrValThrSerSerAlaGlySerGluGlnGlnAsnG
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 rgSerSerSerThrSerSerSerThrValThrSerSerAlaGlySerGluGlnGlnAsnG
 GCTCCTCCTCGACGTCATCATCCACAGTGACCTCCAGTGCAGGGTCAGAACAGCAGAACC

 lnSerSerSerGlySerGluSerThrAspLysGlySerSerArgSerSerThrProLysG
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 lnSerSerSerGlySerGluSerThrAspLysGlySerSerArgSerSerThrProLysG
 AGAGCAGCTCGGGGTCAGAGAGCACAGACAAGGGCTCCTCCCGTTCGTCCACGCCAAAAG

 lyAspMetSerAlaValAsnAspGluSerPhe
 ||||||||||||||||||||||||||||||||
 lyAspMetSerAlaValAsnAspGluSerPhe
 GCGACATGTCAGCAGTAAATGATGAATCTTTC


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