Basic information
Official Symbol C12orf28
DescriptionNA
Other AliasesNA
Other DescriptionNA
Mutation typeInsert and frame-shift 645-646:I-S^TT
LocationScaffold000168_1:548929 640387 +

  ±  bp flank
WikiWikipedia 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 speciePep lengthPep align beginPep align endMutaion type and postion
Human69514668Insert 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


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