Basic information
Official Symbol PRR5-ARHGAP8
DescriptionPRR5-ARHGAP8 readthrough
Other AliasesNA
Other DescriptionPRR5-ARHGAP8 fusion; PRR5-ARHGAP8 fusion protein
Mutation typeInsert and frame-shift 601-602:G-L^C
LocationScaffold143651_1:3281207 3150629 -

  ±  bp flank
WikiWikipedia GeneCard
Sequence
PRR5-ARHGAP8
ATGAGGACTCTCCGCAGGTTGAAGTTCATGAGTTCGCCCAGCCTCAGTGA
CTTGGGCAAGAGAGAGCCGGCCGCCGCCGCCGCGGACGAGCGAGGCACGC
AGCAGCGCCGGGCCTGCGCCAACGCCACCTGGAACAGCATCCACAACGGG
GTGATCGCCGTCTTCCAGCGCAAAGGGTTGCCTGACCAGGAGCTCTTCAG
CCTCAATGAGGGTGTCCGGCAGCTGCTGAAGACGGAGCTGGGGTCCTTCT
TCACGGAGTACCTGCAGAACCAGCTGCTGACGAAAGGCATGGTGATTCTC
CGGGACAAGATCCGCTTCTATGAGGGGCAGAAGCTGCTGGACTCACTGGC
AGAAACCTGGGACTTCTTCTTCAGCGACGTGCTGCCCACGCTGCAGGCCG
TCTTCTACCCCGTGCAGGGCAAGGAGCCATCGGTGCGCCAGCTGGCCCTG
CTCCACTTCCGGAACACCATCACCCTCAGCGTGAAGCTGGAGGATGCACT
GGCCCGCGCCCATGCCCGGGTGCCCCCCGCCATCGTGCAGATGCTGCTGG
TGCTGCAGGGGGTACACGAGTCCCGGGGTGTGACTGAGGACTACCTGCGC
CTAGAGACACTGATCCAGAAGGTGGTGTCGCCCTACCTGGGCACCTACGG
CCTCTACTCCAGCGAGGGGCCCTTCACCCACTCCTGCATCCTGGAGCTGC
AGAGAGACGAGGAAGAGGCAGCAGCACTGGGCAGAGTGAAAAGACCCTCG
GTGGTGCACGTGACCGGCCAGGACCCTGCACTGACCACGAGTCACCCGTT
CTATGACGTGGCCAGACACGGCATCCTGCAGGTGGCAGGGGTCGACCTCT
TTGGAAGACGCGTCGTCACGTTCAGCTCCTGCAGGCTGCCCCCCTCCCAC
CAGCTCAACCACCAGCGGCTCTTGGAGTACAGGAAGAACCTGAAGGCCCT
GTACGTGGTGCACCCCACCAGCTTCGTCAAAGTCCTGTGGACCATCTTCA
AGCCCCTCATCAGCCACAAGTTTGGGAAGAAAGTCACCTACTTCAACTCC
CTGAGTGAGCTCCGTGAGCACCTGCCCTACGACCAGCTGGCTGTCCCCCC
GGAGGTCGTGCGGTACCAAGAGCAGCTCCGGAGCCTTCACAGGGGCCAGC
CACTCCCTCCTGCCAAGACGCCGCCGCCGCGGCCTCCTCTGCCCACCCAG
CAGTTTGGCGTCAGCCTGCAATACCTCAAGGACAAGAATGGAGGCGAGCT
CATCCCCCCTGTGCTGAGGTTCACGGTGACATACCTGCGCCAGAAAGGGC
TTCGCACTGAGGGCCTGTTCCGGAGGTCGGCCAGTGTCCAGACCATCCAA
GAGATCCAGAGGCTCTACAATCAGGGGAAGCCCGTGAACTTCGACGACTA
CGGGGACATCCACGTCCCGGCCGTGACCCTGAAGACCTTCCTGCGGGAGC
TGCCCCAGCCGCTGCTGACCTTCACAGCCTACGAGCAAATCCTCGAACTC
ACCAGTGTGGAGAGCAGCCTGCGTGTGACCCACTGTCGCCAGATCCTGCA
GAGCCTTCCAGAGCACAACTACGCCGTCCTGCGCTACCTCATGGACTTCC
TGCACACGGTGTCCCGGGAGAGCCTTTTTAACAAAATGAACAGCTCCAAC
CTGGCCTGTGTCTTCGGGCTGAATTTAATCTGGCCGTCCCAGGGGGTGGC
CTCCCTCAGTGCCCTCGTGCCCCTGAACCTCTTCACTGAACTGCTGATCG
AGTACTACGAGAGGGTCTTCAGCGCCCAGGAGGCCCCTGGACAGCAGGCC
CTGGCACCATGGCTGCGGGTGAGCAGAGCGGCTCCTTCTCCGGAG

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human6431616Insert and frame-shift 601-602:G-L^C
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
  MetArgThrLeuArgArgLeuLysPheMetSerSerProSerLeuSerAspLeuGlyL
  ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
  MetArgThrLeuArgArgLeuLysPheMetSerSerProSerLeuSerAspLeuGlyL
  ATGAGGACTCTCCGCAGGTTGAAGTTCATGAGTTCGCCCAGCCTCAGTGACTTGGGCA

  ysArgGluPro<->AlaAlaAlaAlaAspGluArgGlyThrGlnGlnArgArgAlaCy
  |||||||||||   ||||||||||||||||||||||||||||||||||||||||||||
  ysArgGluProAlaAlaAlaAlaAlaAspGluArgGlyThrGlnGlnArgArgAlaCy
  AGAGAGAGCCGGCCGCCGCCGCCGCGGACGAGCGAGGCACGCAGCAGCGCCGGGCCTG

  sAlaAsnAlaThrTrpAsn{Se}  >>>> Target Intron 1 >>>>  {r}Ile
  |||||||||||||||||||{||}           11014 bp          {|}|||
  sAlaAsnAlaThrTrpAsn{Se}++                         ++{r}Ile
  CGCCAACGCCACCTGGAAC{AG}gt                         ag{C}ATC

  HisAsnGlyValIleAlaValPheGlnArgLysGlyLeuProAspGlnGluLeuPheS
  ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
  HisAsnGlyValIleAlaValPheGlnArgLysGlyLeuProAspGlnGluLeuPheS
  CACAACGGGGTGATCGCCGTCTTCCAGCGCAAAGGGTTGCCTGACCAGGAGCTCTTCA

  erLeuAsnGluGlyVal{Ar}  >>>> Target Intron 2 >>>>  {g}GlnLe
  |||||||||||||||||{||}           7086 bp           {|}|||||
  erLeuAsnGluGlyVal{Ar}++                         ++{g}GlnLe
  GCCTCAATGAGGGTGTC{CG}gt                         ag{G}CAGCT

  uLeuLysThrGluLeuGlySerPhePheThrGluTyrLeuGln  >>>> Target I
  |||||||||||||||||||||||||||||||||||||||||||           1740
  uLeuLysThrGluLeuGlySerPhePheThrGluTyrLeuGln++             
  GCTGAAGACGGAGCTGGGGTCCTTCTTCACGGAGTACCTGCAGgt             

  ntron 3 >>>>  AsnGlnLeuLeuThrLysGlyMetValIleLeuArgAspLysIl
   bp           ||||||||||||||||||||||||||||||||||||||||||||
              ++AsnGlnLeuLeuThrLysGlyMetValIleLeuArgAspLysIl
              agAACCAGCTGCTGACGAAAGGCATGGTGATTCTCCGGGACAAGAT

  eArgPheTyrGlu{G}  >>>> Target Intron 4 >>>>  {ly}GlnLysLeu
  |||||||||||||{|}           3316 bp           {||}|||||||||
  eArgPheTyrGlu{G}++                         ++{ly}GlnLysLeu
  CCGCTTCTATGAG{G}gt                         ag{GG}CAGAAGCTG

  LeuAspSerLeuAlaGluThrTrpAspPhePhePheSerAspValLeuProMetLeuG
  |||||||||||||||||||||||||||||||||||||||||||||||||||   ||||
  LeuAspSerLeuAlaGluThrTrpAspPhePhePheSerAspValLeuProThrLeuG
  CTGGACTCACTGGCAGAAACCTGGGACTTCTTCTTCAGCGACGTGCTGCCCACGCTGC

  lnAlaIlePheTyrProValGln  >>>> Target Intron 5 >>>>  GlyLys
  |||||   |||||||||||||||            310 bp           ||||||
  lnAlaValPheTyrProValGln++                         ++GlyLys
  AGGCCGTCTTCTACCCCGTGCAGgt                         agGGCAAG

  GluProSerValArgGlnLeuAlaLeuLeuHisPheArgAsnAlaIleThrLeuSerV
  ||||||||||||||||||||||||||||||||||||||||||   |||||||||||||
  GluProSerValArgGlnLeuAlaLeuLeuHisPheArgAsnThrIleThrLeuSerV
  GAGCCATCGGTGCGCCAGCTGGCCCTGCTCCACTTCCGGAACACCATCACCCTCAGCG

  alLysLeuGluAspAlaLeuAlaArgAlaHisAlaArgValProProAlaIleValGl
  ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
  alLysLeuGluAspAlaLeuAlaArgAlaHisAlaArgValProProAlaIleValGl
  TGAAGCTGGAGGATGCACTGGCCCGCGCCCATGCCCGGGTGCCCCCCGCCATCGTGCA

  nMetLeuLeuValLeuGln  >>>> Target Intron 6 >>>>  GlyValHisG
  |||||||||||||||||||           1672 bp           ||||||||||
  nMetLeuLeuValLeuGln++                         ++GlyValHisG
  GATGCTGCTGGTGCTGCAGgt                         agGGGGTACACG

  luSerArgGlyValThrGluAspTyrLeuArgLeuGluThrLeuValGlnLysValVa
  ||||||||||||||||||||||||||||||||||||||||||||   |||||||||||
  luSerArgGlyValThrGluAspTyrLeuArgLeuGluThrLeuIleGlnLysValVa
  AGTCCCGGGGTGTGACTGAGGACTACCTGCGCCTAGAGACACTGATCCAGAAGGTGGT

  lSerProTyrLeuGlyThrTyrGlyLeuHisSerSerGluGlyProPheThrHisSer
  ||||||||||||||||||||||||||||   |||||||||||||||||||||||||||
  lSerProTyrLeuGlyThrTyrGlyLeuTyrSerSerGluGlyProPheThrHisSer
  GTCGCCCTACCTGGGCACCTACGGCCTCTACTCCAGCGAGGGGCCCTTCACCCACTCC

  CysIleLeu{G}  >>>> Target Intron 7 >>>>  {lu}LeuGlnArgAspL
  |||||||||{|}           63860 bp          {||}|||||||||||| 
  CysIleLeu{G}++                         ++{lu}LeuGlnArgAspG
  TGCATCCTG{G}gt                         ag{AG}CTGCAGAGAGACG

  ysAlaAlaAlaAlaAlaValLeuGlyAlaValArgLysArgProSerValValProMe
          |||||||||   ||||||   |||   ||||||||||||||||||     
  luGluGluAlaAlaAla---LeuGlyArgVal---LysArgProSerValValHisVa
  AGGAAGAGGCAGCAGCA---CTGGGCAGAGTG---AAAAGACCCTCGGTGGTGCACGT

  tAlaGlyGlnAspProAlaLeuSerThrSerHisProPheTyrAspValAlaArgHis
      ||||||||||||||||||   |||||||||||||||||||||||||||||||||
  lThrGlyGlnAspProAlaLeuThrThrSerHisProPheTyrAspValAlaArgHis
  GACCGGCCAGGACCCTGCACTGACCACGAGTCACCCGTTCTATGACGTGGCCAGACAC

  GlyIleLeuGlnValAla{G}  >>>> Target Intron 8 >>>>  {ly}AspA
  ||||||||||||||||||{|}           3533 bp           {||}   |
  GlyIleLeuGlnValAla{G}++                         ++{ly}ValA
  GGCATCCTGCAGGTGGCA{G}gt                         ag{GG}GTCG

  spArgPheGlyArgArgValValThrPheSerCysCysArgMetProProSerHisGl
  ||   |||||||||||||||||||||||||||   ||||||   ||||||||||||  
  spLeuPheGlyArgArgValValThrPheSerSerCysArgLeuProProSerHisGl
  ACCTCTTTGGAAGACGCGTCGTCACGTTCAGCTCCTGCAGGCTGCCCCCCTCCCACCA

  uLeuAspHisGlnArgLeuLeu{Gl}  >>>> Target Intron 9 >>>>  {u}
   |||   |||||||||||||||{||}           5289 bp           {|}
  nLeuAsnHisGlnArgLeuLeu{Gl}++                         ++{u}
  GCTCAACCACCAGCGGCTCTTG{GA}gt                         ag{G}

  TyrLysLysAsnLeuLysAlaLeuTyrValValHisProThrSerPheIleLysValL
  |||   ||||||||||||||||||||||||||||||||||||||||||   |||||||
  TyrArgLysAsnLeuLysAlaLeuTyrValValHisProThrSerPheValLysValL
  TACAGGAAGAACCTGAAGGCCCTGTACGTGGTGCACCCCACCAGCTTCGTCAAAGTCC

  euTrpAsnIleLeuLysProLeuIle{Se}  >>>> Target Intron 10 >>>>
  |||||   |||   ||||||||||||{||}            8223 bp         
  euTrpThrIlePheLysProLeuIle{Se}++                          
  TGTGGACCATCTTCAAGCCCCTCATC{AG}gt                          

    {r}HisLysPheGlyLysLysValIleTyrPheAsnTyrLeuSerGluLeuHisGl
    {|}|||||||||||||||||||||   |||||||||   ||||||||||||   ||
  ++{r}HisLysPheGlyLysLysValThrTyrPheAsnSerLeuSerGluLeuArgGl
  ag{C}CACAAGTTTGGGAAGAAAGTCACCTACTTCAACTCCCTGAGTGAGCTCCGTGA

  uHisLeuLysTyrAspGlnLeuValIleProProGluValLeu{Ar}  >>>> Targ
  |||||||   ||||||||||||      ||||||||||||   {||}           
  uHisLeuProTyrAspGlnLeuAlaValProProGluValVal{Ar}++         
  GCACCTGCCCTACGACCAGCTGGCTGTCCCCCCGGAGGTCGTG{CG}gt         

  et Intron 11 >>>>  {g}TyrAspGluLysLeuGlnSerLeuHisGluGlyArg
   3732 bp           {|}|||   |||   |||   |||||||||   |||   
                   ++{g}TyrGlnGluGlnLeuArgSerLeuHisArgGlyGln
                   ag{G}TACCAAGAGCAGCTCCGGAGCCTTCACAGGGGCCAG

  ThrProProProThrLysThrProProProArgProProLeuProThrGlnGlnPheG
        ||||||   |||||||||||||||||||||||||||||||||||||||||||
  ProLeuProProAlaLysThrProProProArgProProLeuProThrGlnGlnPheG
  CCACTCCCTCCTGCCAAGACGCCGCCGCCGCGGCCTCCTCTGCCCACCCAGCAGTTTG

  lyValSerLeuGln{Ty}  >>>> Target Intron 12 >>>>  {r}LeuLysA
  ||||||||||||||{||}           11214 bp           {|}|||||||
  lyValSerLeuGln{Ty}++                          ++{r}LeuLysA
  GCGTCAGCCTGCAA{TA}gt                          ag{C}CTCAAGG

  spLysAsnGlnGlyGluLeuIleProProValLeuArgPheThrValThrTyrLeuAr
  ||||||||   |||||||||||||||||||||||||||||||||||||||||||||||
  spLysAsnGlyGlyGluLeuIleProProValLeuArgPheThrValThrTyrLeuAr
  ACAAGAATGGAGGCGAGCTCATCCCCCCTGTGCTGAGGTTCACGGTGACATACCTGCG

  gGluLys{G}  >>>> Target Intron 13 >>>>  {ly}LeuArgThrGluGl
  |   |||{|}            1759 bp           {||}||||||||||||||
  gGlnLys{G}++                          ++{ly}LeuArgThrGluGl
  CCAGAAA{G}gt                          ag{GG}CTTCGCACTGAGGG

  yLeuPheArgArgSerAlaSerValGlnThrValArgGluIleGlnArgLeuTyrAsn
  |||||||||||||||||||||||||||||||      |||||||||||||||||||||
  yLeuPheArgArgSerAlaSerValGlnThrIleGlnGluIleGlnArgLeuTyrAsn
  CCTGTTCCGGAGGTCGGCCAGTGTCCAGACCATCCAAGAGATCCAGAGGCTCTACAAT

  Gln{G}  >>>> Target Intron 14 >>>>  {ly}LysProValAsnPheAsp
  |||{|}            1333 bp           {||}||||||||||||||||||
  Gln{G}++                          ++{ly}LysProValAsnPheAsp
  CAG{G}gt                          ag{GG}AAGCCCGTGAACTTCGAC

  AspTyrGlyAspIleHisIleProAlaValIleLeuLysThrPheLeuArgGluLeuP
  ||||||||||||||||||   |||||||||   |||||||||||||||||||||||||
  AspTyrGlyAspIleHisValProAlaValThrLeuLysThrPheLeuArgGluLeuP
  GACTACGGGGACATCCACGTCCCGGCCGTGACCCTGAAGACCTTCCTGCGGGAGCTGC

  roGlnProLeuLeuThrPheGlnAlaTyrGluGlnIleLeuGlyIleThr{C}  >>>
  ||||||||||||||||||||   ||||||||||||||||||      |||{ }     
  roGlnProLeuLeuThrPheThrAlaTyrGluGlnIleLeuGluLeuThr{S}++   
  CCCAGCCGCTGCTGACCTTCACAGCCTACGAGCAAATCCTCGAACTCACC{A}gt   

  > Target Intron 15 >>>>  {ys}ValGluSerSerLeuArgValThrGlyCy
         2935 bp           {  }||||||||||||||||||||||||   ||
                         ++{er}ValGluSerSerLeuArgValThrHisCy
                         ag{GT}GTGGAGAGCAGCCTGCGTGTGACCCACTG

  sArgGlnIleLeuArgSerLeuProGluHisAsnTyrValValLeuArgTyrLeuMet
  |||||||||||||   |||||||||||||||||||||   ||||||||||||||||||
  sArgGlnIleLeuGlnSerLeuProGluHisAsnTyrAlaValLeuArgTyrLeuMet
  TCGCCAGATCCTGCAGAGCCTTCCAGAGCACAACTACGCCGTCCTGCGCTACCTCATG

  GlyPheLeuHisAla  >>>> Target Intron 16 >>>>  ValSerArgGluS
     |||||||||               1717 bp           |||||||||||||
  AspPheLeuHisThr++                          ++ValSerArgGluS
  GACTTCCTGCACACGgt                          agGTGTCCCGGGAGA

  erIlePheAsnLysMetAsnSerSerAsnLeuAlaCysValPheGlyLeuAsnLeuIl
  ||   |||||||||||||||||||||||||||||||||||||||||||||||||||||
  erLeuPheAsnLysMetAsnSerSerAsnLeuAlaCysValPheGlyLeuAsnLeuIl
  GCCTTTTTAACAAAATGAACAGCTCCAACCTGGCCTGTGTCTTCGGGCTGAATTTAAT

  eTrpProSerGlnGlyValSerSerLeuSerAlaLeuValProLeuAsnMetPheThr
  |||||||||||||||||||   |||||||||||||||||||||||||||   ||||||
  eTrpProSerGlnGlyValAlaSerLeuSerAlaLeuValProLeuAsnLeuPheThr
  CTGGCCGTCCCAGGGGGTGGCCTCCCTCAGTGCCCTCGTGCCCCTGAACCTCTTCACT

  GluLeuLeuIleGluTyrTyrGluLysIlePheSerThrProGluAlaProGlyGluH
  ||||||||||||||||||||||||      ||||||      ||||||||||||    
  GluLeuLeuIleGluTyrTyrGluArgValPheSerAlaGlnGluAlaProGlyGlnG
  GAACTGCTGATCGAGTACTACGAGAGGGTCTTCAGCGCCCAGGAGGCCCCTGGACAGC

  isGly-LeuAlaProTrpGluGlnGlySerArgAlaAlaProLeuGlnGlu
       #||||||||||||         |||||||||||||||      |||
  lnAla#LeuAlaProTrpLeuArgValSerArgAlaAlaProSerProGlu
  AGGCCCCTGGCACCATGGCTGCGGGTGAGCAGAGCGGCTCCTTCTCCGGAG


//