Basic information |
Official Symbol | C12orf28 |
Description | NA |
Other Aliases | NA |
Other Description | NA |
Mutation type | Insert and frame-shift 645-646:I-S^TT |
Location | Scaffold000168_1:548929 640387 + |
Wiki | Wikipedia GeneCard |
Sequence |
C12orf28 |
TTTGCAGCACAGGGGGCCAACGGCACTCTGGAGAACCCAGCCCTAGATAC AAGCCTACTGGAAGAGTTCCTGGGCAATGACTTCGATTTGGGGGCCTTGC AACGCCAGCTCCCAGATACCCCACCCTATTCTGCATCAGACCCATGCTCT CCTCCACAGATCAAAGGTGCATGCTGCCGGACCCCGAGGCCCACAGCTGG GAGGACTCTGGCCACTCTTCTCCACCCCGCAGCTGTTCCCGGGATGTTGC CTGCACACCCACCCCTGAGCACTCTGGGAAAGAGCAACTCCGGCCAAACC CAGAGCAGCTTTCACAACTGCTATCCGAACACCAGTCATCCCGCCGCCCC GCTGCACCAATCTGTGTTCTCCCATCTGGGGAGCTGTTCTAACCCCCAGC AGCCTCTGTGCCACAGCCACAGAGCCTCATTGCCTCCAACCAAGAAGAGA AAGCACGCACAGGCACTGGACGACTCCGGGGACTGCCGAGAGTGGGCCTA CCACTCCAGACCAATGACAAGTACGAGTCACAGCAGTGAAATACAGGACC ATGACAATGAGGGTCAGAACGAGATGCTTGCAGACCAATGTGCTCCTGTT CTGAAGTGGCAGCCATACCAAAGTGATCCTTGGCACAGCTTATTAAACAG TCACTATGAAAAACTTCCTGATGTGGGCTATCGCGTTGTCACAGACAAAG GATTTAATTTTTCACCAGCAGATGAAGCTTTTGTTTGCCAAAAGAAGAAT CATTTTCAGATAACCATCCACATCCAAGTTTGGGGAAGTCCAAAATTTGT TAAAACACAAATGGGCCTAAAGCCAATAGAAATGTTTTACTTGAAAGCTT TTGGAATTAAGGTAGAAGCCACCAATCAAATAATTGCTATTGAACAGTCC CAAGCAGATAGGAGCAAAAAGATATTCAATCCTGTTAAAATCAACCTGCT GACTGACCAGGTCACGAAAGTAACGCTGGGACGATTACACTTTAGTGAGA CCACAGCAAATAATATGAGAAAGAAAGGAAAACCGAATCCTGACCAGAGA TACTTCATGTTGGTGGTTGGACTATACGCTGCTAACCAGGACCAGTTCTA CTTGTTGTCTGCCCACATCTCTGAAAGGATCATTGTAAGGGCCTCTAACC CTGGGCAATTTGAAAATGACAGTGATGCATTATGGCAGCGAGGACAAGTT CCAGAATCTGTTGTCTGTCATGGTCGAGTAGGTATAAACACAAATGCACC GGACGAAGCCCTGGTTGTCTGTGGCAACGTGAAAGTGATGGGAACAGTCA TGCACCCCTCTGACAGCCGGGCAAAGCAGAATATCCAGGAGGTAGACACA AATGAACAGCTGAGAAGAATAGCCCAAATGAGGATTGTTGAATATGACTA CAAACCTGAATTTGCATCTGCAATGGGAATAAACACTGCCCATCAAACAG GAATGATTGCCCAGGAGGTGCAAGAGATCCTGCCTAGAGCTGTAAGAGAG GTTGGTGATGTCACCTGCGAAAATGGAGAAAAGTTGGAGAACTTCCTCAT GGTCGATAAGGATCAAATCTTTATGGAAAATGTAGGTGCTGTGAAGCAAC TCTGCAAACTAACCAACAATCTTGAAGAAAGAATAGAAGAGTTAGAGATA TGGAACAGAAAGCTTGCCCGGCTAAAGCGGCTTAGTAGCTGGAAGTCCTC AGTCAGTGAAGCAAGTTCAATCAGCAAATTTAGCAGAGCTGTTAGTTCAT CTTCTCCAAGAAGGGCCATTCACAAAAAATCCAACAAGGTTTATTTTTCA GGAAAAAAGCAATCGTGTCCTAACTGGGTTTTCCAGACCTTGGTTATAGC TCTAATTGCTGTGATGGCATTTTGTCCTCTCTCACTAATCATTGTCCTCC GCTCCTCCAGCAATATCACCAGCTCTCAGGAGCCAGCTCTTCCACCCACA GCCTCCCCCTCA |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 695 | 14 | 668 | Insert and frame-shift 645-646:I-S^TT |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> PheGluAlaGlnGlyAlaAsnGlyThrLeuGluAsnProAlaLeuAspThrSerLeuLeu ||| |||||||||||||||||||||||||||||||||||||||||||||||||||||| PheAlaAlaGlnGlyAlaAsnGlyThrLeuGluAsnProAlaLeuAspThrSerLeuLeu TTTGCAGCACAGGGGGCCAACGGCACTCTGGAGAACCCAGCCCTAGATACAAGCCTACTG GluGluPheLeuGlyAsnAspPheAspLeuGlyAla{Le} >>>> Target Intron ||||||||||||||||||||||||||||||||||||{||} 13677 bp GluGluPheLeuGlyAsnAspPheAspLeuGlyAla{Le}++ GAAGAGTTCCTGGGCAATGACTTCGATTTGGGGGCC{TT}gt 1 >>>> {u}GlnArgGlnLeuProAspThrProProTyrSerAlaSerAspSerCys {|}|||||||||||||||||||||||||||||||||||||||||| ||| ++{u}GlnArgGlnLeuProAspThrProProTyrSerAlaSerAspProCys ag{G}CAACGCCAGCTCCCAGATACCCCACCCTATTCTGCATCAGACCCATGC SerProProGlnValLys{G} >>>> Target Intron 2 >>>> {ly}AlaCys |||||||||||| |||{|} 96 bp {||}|||||| SerProProGlnIleLys{G}++ ++{ly}AlaCys TCTCCTCCACAGATCAAA{G}gt ag{GT}GCATGC TyrProThrLeuArgProThrAlaGlyArgThrProAlaProPheLeuHisProThrAla ||| ||||||||||||||||||||| ||| ||||||||| ||| CysArgThrProArgProThrAlaGlyArgThrLeuAlaThrLeuLeuHisProAlaAla TGCCGGACCCCGAGGCCCACAGCTGGGAGGACTCTGGCCACTCTTCTCCACCCCGCAGCT AlaProAlaMetProProMetHisProLeuGlnSerThrSerGlyMetGlyAspSerCys ||| ||| ||| |||||| |||||| ||| ||| ValProGlyMetLeuProAlaHisProProLeuSerThrLeuGlyLysSerAsnSerGly GTTCCCGGGATGTTGCCTGCACACCCACCCCTGAGCACTCTGGGAAAGAGCAACTCCGGC GlnIleHisGlyGlyPheHisSerCysHisSerAsnAlaSerHisLeuAlaThrProLeu ||| |||||| ||| ||| |||||| ||| |||||| GlnThrGlnSerSerPheHisAsnCysTyrProAsnThrSerHisProAlaAlaProLeu CAAACCCAGAGCAGCTTTCACAACTGCTATCCGAACACCAGTCATCCCGCCGCCCCGCTG AspGlnSerValSerSerHisLeuGlyIleGlyCysSerTyrProGlnGlnProLeuCys ||||||||| |||||||||||| |||||| |||||||||||||||||| HisGlnSerValPheSerHisLeuGly---SerCysSerAsnProGlnGlnProLeuCys CACCAATCTGTGTTCTCCCATCTGGGG---AGCTGTTCTAACCCCCAGCAGCCTCTGTGC HisSerPro{Gl} >>>> Target Intron 3 >>>> {y}AlaSerLeuProPro |||||| { } 744 bp { }||||||||||||||| HisSerHis{Ar}++ ++{g}AlaSerLeuProPro CACAGCCAC{AG}gt ag{A}GCCTCATTGCCTCCA ThrLysLysArgLysCysThrGlnAlaLeuGluAspSerGlyGluCysArgValTrpAla ||||||||||||||| ||||||||| ||||||||| |||||| |||||| ThrLysLysArgLysHisAlaGlnAlaLeuAspAspSerGlyAspCysArgGluTrpAla ACCAAGAAGAGAAAGCACGCACAGGCACTGGACGACTCCGGGGACTGCCGAGAGTGGGCC CysHisCysArgPro{M} >>>> Target Intron 4 >>>> {et}ThrSerArg ||| ||||||{|} 15415 bp {||}|||||| TyrHisSerArgPro{M}++ ++{et}ThrSerThr TACCACTCCAGACCA{A}gt ag{TG}ACAAGTACG SerArgSerSerGluValGlnAspProAspSerGluGlyGlnAsnArgMetProThrAsp ||| ||||||||| |||||| ||| |||||||||||| ||| ||| SerHisSerSerGluIleGlnAspHisAspAsnGluGlyGlnAsnGluMetLeuAlaAsp AGTCACAGCAGTGAAATACAGGACCATGACAATGAGGGTCAGAACGAGATGCTTGCAGAC GlnCysSerProAlaLeuLysTrpGlnProCysHisSerValProTrpHisSerLeuLeu |||||| ||| ||||||||||||||| ||| |||||||||||||||||| GlnCysAlaProValLeuLysTrpGlnProTyrGlnSerAspProTrpHisSerLeuLeu CAATGTGCTCCTGTTCTGAAGTGGCAGCCATACCAAAGTGATCCTTGGCACAGCTTATTA AsnSerHisTyrGluLys{Le} >>>> Target Intron 5 >>>> {u}ProAsp ||||||||||||||||||{||} 7093 bp {|}|||||| AsnSerHisTyrGluLys{Le}++ ++{u}ProAsp AACAGTCACTATGAAAAA{CT}gt ag{T}CCTGAT ValGlyTyrArgValValThrAspLysGlyPheAsnPheSerProAlaAspGluAlaPhe |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| ValGlyTyrArgValValThrAspLysGlyPheAsnPheSerProAlaAspGluAlaPhe GTGGGCTATCGCGTTGTCACAGACAAAGGATTTAATTTTTCACCAGCAGATGAAGCTTTT ValCysGlnLysLysAsnHisPheGlnIleThrIleHisIleGlnValTrpGlySerPro |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| ValCysGlnLysLysAsnHisPheGlnIleThrIleHisIleGlnValTrpGlySerPro GTTTGCCAAAAGAAGAATCATTTTCAGATAACCATCCACATCCAAGTTTGGGGAAGTCCA LysPheValGluThrGluMetGlyLeuLysProIleGluMetPheTyrLeuLysValPhe ||||||||| ||| |||||||||||||||||||||||||||||||||||| ||| LysPheValLysThrGlnMetGlyLeuLysProIleGluMetPheTyrLeuLysAlaPhe AAATTTGTTAAAACACAAATGGGCCTAAAGCCAATAGAAATGTTTTACTTGAAAGCTTTT GlyThrLys >>>> Target Intron 6 >>>> ValGluAlaThrAsnGlnIleI ||| ||| 1854 bp |||||||||||||||||||||| GlyIleLys++ ++ValGluAlaThrAsnGlnIleI GGAATTAAGgt agGTAGAAGCCACCAATCAAATAA leAlaIleGluGlnSerGlnAlaAspArgSerLysLysIlePheAsnProVal{Ly} > |||||||||||||||||||||||||||||||||||||||||||||||||||||{||} leAlaIleGluGlnSerGlnAlaAspArgSerLysLysIlePheAsnProVal{Ly}++ TTGCTATTGAACAGTCCCAAGCAGATAGGAGCAAAAAGATATTCAATCCTGTT{AA}gt >>> Target Intron 7 >>>> {s}IleAspLeuLeuAlaAspGlnValThrLysV 1175 bp {|}||| |||||| |||||||||||||||| ++{s}IleAsnLeuLeuThrAspGlnValThrLysV ag{A}ATCAACCTGCTGACTGACCAGGTCACGAAAG alThrLeuGlyArgLeuHisPheSerGluThrThrAlaAsnAsnMetArgLysLysGlyL |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| alThrLeuGlyArgLeuHisPheSerGluThrThrAlaAsnAsnMetArgLysLysGlyL TAACGCTGGGACGATTACACTTTAGTGAGACCACAGCAAATAATATGAGAAAGAAAGGAA ysProAsnProAspGln{Ar} >>>> Target Intron 8 >>>> {g}TyrPheM |||||||||||||||||{||} 3299 bp {|}||||||| ysProAsnProAspGln{Ar}++ ++{g}TyrPheM AACCGAATCCTGACCAG{AG}gt ag{A}TACTTCA etLeuValValGlyLeuTyrAlaAlaAsnGlnAspGlnPheTyrLeuLeuSerAlaHisI |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| etLeuValValGlyLeuTyrAlaAlaAsnGlnAspGlnPheTyrLeuLeuSerAlaHisI TGTTGGTGGTTGGACTATACGCTGCTAACCAGGACCAGTTCTACTTGTTGTCTGCCCACA leSerGluArgIleIleValArg >>>> Target Intron 9 >>>> AlaSerAs ||||||||||||||||||||||| 10987 bp |||||||| leSerGluArgIleIleValArg++ ++AlaSerAs TCTCTGAAAGGATCATTGTAAGGgt agGCCTCTAA nProGlyGlnPheGluAsnAspSerAspAlaLeuTrpGlnArgGlyGlnValProGluSe |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| nProGlyGlnPheGluAsnAspSerAspAlaLeuTrpGlnArgGlyGlnValProGluSe CCCTGGGCAATTTGAAAATGACAGTGATGCATTATGGCAGCGAGGACAAGTTCCAGAATC rIleValCysHisGlyArgValGlyIleAsnThrAspAlaProAspGluAlaLeuValVa | |||||||||||||||||||||||||||||| ||||||||||||||||||||||| rValValCysHisGlyArgValGlyIleAsnThrAsnAlaProAspGluAlaLeuValVa TGTTGTCTGTCATGGTCGAGTAGGTATAAACACAAATGCACCGGACGAAGCCCTGGTTGT lCysGlyAsnMetLysValMetGlyThrIleMetHisProSerAspSerArgAlaLysGl |||||||||| ||||||||||||||| ||||||||||||||||||||||||||||| lCysGlyAsnValLysValMetGlyThrValMetHisProSerAspSerArgAlaLysGl CTGTGGCAACGTGAAAGTGATGGGAACAGTCATGCACCCCTCTGACAGCCGGGCAAAGCA nAsnIleGlnGlu >>>> Target Intron 10 >>>> ValAspThrAsnGluGl ||||||||||||| 8141 bp ||||||||||||||||| nAsnIleGlnGlu++ ++ValAspThrAsnGluGl GAATATCCAGGAGgt agGTAGACACAAATGAACA nLeuLysArgIleAlaGlnMetArgIleValGluTyrAspTyrLysProGluPheAlaSe |||| ||||||||||||||||||||||||||||||||||||||||||||||||||||| nLeuArgArgIleAlaGlnMetArgIleValGluTyrAspTyrLysProGluPheAlaSe GCTGAGAAGAATAGCCCAAATGAGGATTGTTGAATATGACTACAAACCTGAATTTGCATC rAlaMetGlyIleAsnThrAlaHisGlnThr{G} >>>> Target Intron 11 >> |||||||||||||||||||||||||||||||{|} 809 bp rAlaMetGlyIleAsnThrAlaHisGlnThr{G}++ TGCAATGGGAATAAACACTGCCCATCAAACA{G}gt >> {ly}MetIleAlaGlnGluValGlnGluIleLeuProArgAlaValArgGluValG {||}|||||||||||||||||||||||||||||||||||||||||||||||||||| ++{ly}MetIleAlaGlnGluValGlnGluIleLeuProArgAlaValArgGluValG ag{GA}ATGATTGCCCAGGAGGTGCAAGAGATCCTGCCTAGAGCTGTAAGAGAGGTTG lyAspValThrCysGlyAsnGlyGluThrLeuGluAsnPheLeuMetValAspLys >> |||||||||||||| ||||||||| ||||||||||||||||||||||||||| lyAspValThrCysGluAsnGlyGluLysLeuGluAsnPheLeuMetValAspLys++ GTGATGTCACCTGCGAAAATGGAGAAAAGTTGGAGAACTTCCTCATGGTCGATAAGgt >> Target Intron 12 >>>> AspGlnIlePheMetGluAsnValGlyAlaValL 17125 bp |||||||||||||||||||||||||||||||||| ++AspGlnIlePheMetGluAsnValGlyAlaValL agGATCAAATCTTTATGGAAAATGTAGGTGCTGTGA ysGlnLeuCysLysLeuThrAsnAsnLeuGluGluArgIleGluGluLeuGluIleTrpA |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| ysGlnLeuCysLysLeuThrAsnAsnLeuGluGluArgIleGluGluLeuGluIleTrpA AGCAACTCTGCAAACTAACCAACAATCTTGAAGAAAGAATAGAAGAGTTAGAGATATGGA snArgLysLeuAlaArgLeuLysArgLeuSerSerTrpLysSerSerAlaSerGluAlaS ||||||||||||||||||||||||||||||||||||||||||||||| |||||||||| snArgLysLeuAlaArgLeuLysArgLeuSerSerTrpLysSerSerValSerGluAlaS ACAGAAAGCTTGCCCGGCTAAAGCGGCTTAGTAGCTGGAAGTCCTCAGTCAGTGAAGCAA erThrIle{Se} >>>> Target Intron 13 >>>> {r}LysSerSerArgAla || |||{||} 856 bp {|}||| ||||||||| erSerIle{Se}++ ++{r}LysPheSerArgAla GTTCAATC{AG}gt ag{C}AAATTTAGCAGAGCT ValSerAlaSerSerProArgArgAlaValHisLysLysAsnAsnLys >>>> Targe |||||| |||||||||||||||||| ||||||||| |||||| ValSerSerSerSerProArgArgAlaIleHisLysLysSerAsnLys++ GTTAGTTCATCTTCTCCAAGAAGGGCCATTCACAAAAAATCCAACAAGgt t Intron 14 >>>> ValTyrPheSerGlyLysArgGlnAlaCysProAsnTrpVal 5278 bp |||||||||||||||||| ||| ||||||||||||||| ++ValTyrPheSerGlyLysLysGlnSerCysProAsnTrpVal agGTTTATTTTTCAGGAAAAAAGCAATCGTGTCCTAACTGGGTT PheGlnThrLeuValIleThrLeuIleAlaValMetAlaPhe{Cy} >>>> Target |||||||||||||||||| |||||||||||||||||||||{||} 29 PheGlnThrLeuValIleAlaLeuIleAlaValMetAlaPhe{Cy}++ TTCCAGACCTTGGTTATAGCTCTAATTGCTGTGATGGCATTT{TG}gt Intron 15 >>>> {s}ProLeuSerLeuIleIle--SerPhePhePheSerSerAsn 46 bp {|}||||||||||||||||||## ||||||||| ++{s}ProLeuSerLeuIleIle##ValLeuArgSerSerSerAsn ag{T}CCTCTCTCACTAATCATTTTGTCCTCCGCTCCTCCAGCAAT IleThrSerSerGlnGluProAlaLeuLeuProThrAlaSerSerSer ||||||||||||||||||||||||||| |||||||||||| ||| IleThrSerSerGlnGluProAlaLeuProProThrAlaSerProSer ATCACCAGCTCTCAGGAGCCAGCTCTTCCACCCACAGCCTCCCCCTCA // |