Basic information |
Official Symbol | PRR5-ARHGAP8 |
Description | PRR5-ARHGAP8 readthrough |
Other Aliases | NA |
Other Description | PRR5-ARHGAP8 fusion; PRR5-ARHGAP8 fusion protein |
Mutation type | Insert and frame-shift 601-602:G-L^C |
Location | Scaffold143651_1:3281207 3150629 - |
Wiki | Wikipedia 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 specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 643 | 1 | 616 | Insert 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 // |