Basic information
Official Symbol C1RL
Descriptioncomplement component 1, r subcomponent-like
Other AliasesC1RL1, C1RLP, C1r-LP, CLSPa
Other DescriptionC1r-like protein; C1r-like serine protease analog protein; complement C1r subcomponent-like protein; complement C1r-like proteinase
Mutation typeDelete and frame-shift 8:G->G
LocationScaffold149011_1:182943 194770 +

  ±  bp flank
WikiWikipedia GeneCard
Sequence
C1RL
CCAGGTCCCAGAGTCTGGGAACTATCTCTGGAAAAGCCCTCACTCCGCAAGCTGCCCAGG
CATGTGGTGGCTGCTCCTCTGGGGAGCCCTCCAGGCTTGCCCCACACAAACCTCTGTCCT
CTTGGCCCAGCAGCTACCTCAGCAGCTGACATCCCCCAAGTACCCAGAACCGTATCTCAA
AGGCCAAGAGAGCACCACTGACATCGAGGCTCCAGAAGGCTTTGCCGTGAGGCTCATCTT
CCGGGACTTCGACCTGGAGCCATCCCAGGACTGTGAACAGGACTTTGTCACAATCTCGGC
CCACGGGATAGAGCCAAGCCGGTTCTGTGGCCAGCAGGAGCCCCCTCTGGGCAGCCCTCC
TGGTCACAGGGAGTTCGTGTCCTCAGGGAGGACTCTGCGGCTGACCTTCCATGCACACAG
CTCCTCCAAGGACAAGAGCACCCCCCTCCACAAGGGCTTCTTGGCCCTCTACCAGGCCGT
GGTGAACTGTAGCCAGCCCATCGGCAAGGCCAGCGGCAGCTCGGAGGCTGTCGGCACACC
TGCAGATGACCCCTCTGAGACCCAGAACCACTGCCAAGAACCCTATTACCAGACGGTACC
AGCAACACTCACCTGCACAGACCGGGGAACCCGGAAGGACAGACAGGATGGGGAGCAGGC
ACCTCGGTGTGAGCCTTGTGGACGGCCGGTCATCCCCATTGCCCAGAACCACAAGACCCA
TGGCTCCTCCAGAGCTAAGCCAGGCAACTTCCCCTGGCAAGCCTTCACCAACATCTATGG
CCGTGGAGGCGGAGCCCTGCTGGGCGACAGATGGATCCTCACCGCCGCCCATACCATCTA
CCCCAAGGACAGCATCTCTGCCAGGAGGAACCTGAGCGTGGATGTCTTCCTGGGCCACAC
AGACATCGAAGAGATGCTGAAACGGGGAAACCATCCCGTCCGCCGCGTTGTTGTGCATCC
AGACTACCGTCAGGACGAGTCCCACAACTTTGATGGGGACATCGCACTCCTGGAGCTCCA
GCACCAGGTCCCCCTGGGCCCCCATGTCCTCCCGGTCTGTCTGCCTGACAACGAGACTTT
CTACCGCAGCGGCTTGTTGGGCTACGTCAGTGGGTTTGGGGTGGAGGCAGGCTGGTTAAC
GACCAAGCTGAAGTACTCCAGGCTGCCCGTGGCTCCGAGAGAGGCCTGTGAGGCCTGGCT
CCGACAGAGGCAGAGCACTGAGGTGTTTTCCGGCAACATGTTCTGCGTCGGAAATGAGAC
GCAGATACACAGTGCCTGCCAGGGGGACAGTGGTAGTGTCTATGTGGTATGGGATGACCA
TGCCCATCGCTGGGTGGCCACGGGTATCGTATCTTGGGGCATTGGGTGTGGCAAGGGGTA
TGACTTCTACACCAAAGTTCTCAGCTACGTGGACTGGATCCGGAGAGTGATGGATGGCAG
GGAC


Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human4872487Delete and frame-shift 8:G->G
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
 ProGlyProArgValTrpGlyLysTyrLeuTrpArgSerProHisSerLysGlyCysProGly
 ||||||||||||||||||      |||||||||   ||||||||||||      |||||||||
 ProGlyProArgValTrp---AsnTyrLeuTrpLysSerProHisSerAlaSerCysProGly
 CCAGGTCCCAGAGTCTGGG##AACTATCTCTGGAAAAGCCCTCACTCCGCAAGCTGCCCAGGC

 Ala{Me}  >>>> Target Intron 1 >>>>  {t}TrpTrpLeuLeuLeuTrpGlyVal
    {||}            480 bp           {|}|||||||||||||||||||||   
 Met{Me}++                         ++{t}TrpTrpLeuLeuLeuTrpGlyAla
 ATG{AT}gt                         ag{G}TGGTGGCTGCTCCTCTGGGGAGCC

 LeuGlnAlaCysProThrArgGlySerValLeuLeuAlaGlnGluLeuProGlnGlnLeuThr
 ||||||||||||||||||      ||||||||||||||||||   ||||||||||||||||||
 LeuGlnAlaCysProThrGlnThrSerValLeuLeuAlaGlnGlnLeuProGlnGlnLeuThr
 CTCCAGGCTTGCCCCACACAAACCTCTGTCCTCTTGGCCCAGCAGCTACCTCAGCAGCTGACA

 SerProGlyTyrProGluProTyrGlyLysGlyGlnGluSerSerThrAspIleLysAlaPro
 ||||||   |||||||||||||||   |||||||||||||||   |||||||||   ||||||
 SerProLysTyrProGluProTyrLeuLysGlyGlnGluSerThrThrAspIleGluAlaPro
 TCCCCCAAGTACCCAGAACCGTATCTCAAAGGCCAAGAGAGCACCACTGACATCGAGGCTCCA

 GluGlyPheAlaValArgLeuValPheGlnAspPheAspLeuGluProSerGlnAspCysAla
 |||||||||||||||||||||   |||   ||||||||||||||||||||||||||||||   
 GluGlyPheAlaValArgLeuIlePheArgAspPheAspLeuGluProSerGlnAspCysGlu
 GAAGGCTTTGCCGTGAGGCTCATCTTCCGGGACTTCGACCTGGAGCCATCCCAGGACTGTGAA

 GlyAspSerValThr  >>>> Target Intron 2 >>>>  IleSerPheValGlySerA
    |||   ||||||           4690 bp           ||||||      |||    
 GlnAspPheValThr++                         ++IleSerAlaHisGlyIleG
 CAGGACTTTGTCACAgt                         agATCTCGGCCCACGGGATAG

 spProSerGlnPheCysGlyGlnGlnGlySerProLeuGlyArgProProGlyGlnArgG
   ||||||   |||||||||||||||      |||||||||   |||||||||   ||||
 luProSerArgPheCysGlyGlnGlnGluProProLeuGlySerProProGlyHisArgG
 AGCCAAGCCGGTTCTGTGGCCAGCAGGAGCCCCCTCTGGGCAGCCCTCCTGGTCACAGGG

 luPheValSerSerGlyArgSerLeuArgLeuThrPheArgThrGlnProSerSerGluA
 ||||||||||||||||||||   |||||||||||||||            ||||||    
 luPheValSerSerGlyArgThrLeuArgLeuThrPheHisAlaHisSerSerSerLysA
 AGTTCGTGTCCTCAGGGAGGACTCTGCGGCTGACCTTCCATGCACACAGCTCCTCCAAGG

 snLysThrAlaHisLeuHisLysGlyPheLeuAlaLeuTyrGlnThrVal{A}  >>>> 
   |||         ||||||||||||||||||||||||||||||   |||{|}       
 spLysSerThrProLeuHisLysGlyPheLeuAlaLeuTyrGlnAlaVal{A}++     
 ACAAGAGCACCCCCCTCCACAAGGGCTTCTTGGCCCTCTACCAGGCCGTG{G}gt     

 Target Intron 3 >>>>  {la}ValAsnTyrSerGlnProIleSerGluAlaSerA
      823 bp           {||}||||||   ||||||||||||      |||||| 
                     ++{la}ValAsnCysSerGlnProIleGlyLysAlaSerG
                     ag{CT}GTGAACTGTAGCCAGCCCATCGGCAAGGCCAGCG

 rgGlySerGluAlaIleAsnAlaProGlyAspAsnProAlaLysValGlnAsnHisCysG
      |||||||||         |||   |||   |||         |||||||||||||
 lySerSerGluAlaValGlyThrProAlaAspAspProSerGluThrGlnAsnHisCysG
 GCAGCTCGGAGGCTGTCGGCACACCTGCAGATGACCCCTCTGAGACCCAGAACCACTGCC

 lnGluProTyrTyrGlnAlaAlaAlaAla{G}  >>>> Target Intron 4 >>>> 
 |||||||||||||||||         |||{|}            138 bp          
 lnGluProTyrTyrGlnThrValProAla{G}++                         +
 AAGAACCCTATTACCAGACGGTACCAGCA{G}gt                         a

  {ly}AlaLeuThrCysAlaThrProGlyThrTrpLysAspArgGlnAspGlyGluGluV
  {||}   |||||||||         ||||||   |||||||||||||||||||||    
 +{ly}ThrLeuThrCysThrAspArgGlyThrArgLysAspArgGlnAspGlyGluGlnA
 g{GG}ACACTCACCTGCACAGACCGGGGAACCCGGAAGGACAGACAGGATGGGGAGCAGG

 alLeuGlnCysMetPro{V}  >>>> Target Intron 5 >>>>  {al}CysGlyA
         |||   |||{|}           4241 bp           {||}|||||||
 laProArgCysGluPro{V}++                         ++{al}CysGlyA
 CACCTCGGTGTGAGCCT{G}gt                         ag{TC}TGTGGAC

 rgProValThrProIleAlaGlnAsnGlnThrThrLeuGlySerSerArgAlaLysLeuG
 ||||||||   |||||||||||||||      |||   ||||||||||||||||||   |
 rgProValIleProIleAlaGlnAsnHisLysThrHisGlySerSerArgAlaLysProG
 GGCCGGTCATCCCCATTGCCCAGAACCACAAGACCCATGGCTCCTCCAGAGCTAAGCCAG

 lyAsnPheProTrpGlnAlaPheThrSerIleHisGlyArgGlyGlyGlyAlaLeuLeuG
 ||||||||||||||||||||||||||   |||   |||||||||||||||||||||||||
 lyAsnPheProTrpGlnAlaPheThrAsnIleTyrGlyArgGlyGlyGlyAlaLeuLeuG
 GCAACTTCCCCTGGCAAGCCTTCACCAACATCTATGGCCGTGGAGGCGGAGCCCTGCTGG

 lyAspArgTrpIleLeuThrAlaAlaHisThrIleTyrProLysAspSerValSerLeuA
 ||||||||||||||||||||||||||||||||||||||||||||||||||   |||   |
 lyAspArgTrpIleLeuThrAlaAlaHisThrIleTyrProLysAspSerIleSerAlaA
 GCGACAGATGGATCCTCACCGCCGCCCATACCATCTACCCCAAGGACAGCATCTCTGCCA

 rgLysAsnGlnSerValAsnValPheLeuGlyHisThrAlaIleAspGluMetLeuLysL
 ||   |||   ||||||   ||||||||||||||||||   |||   |||||||||||| 
 rgArgAsnLeuSerValAspValPheLeuGlyHisThrAspIleGluGluMetLeuLysA
 GGAGGAACCTGAGCGTGGATGTCTTCCTGGGCCACACAGACATCGAAGAGATGCTGAAAC

 euGlyAsnHisProValHisArgValValValHisProAspTyrArgGlnAsnGluSerH
   |||||||||||||||   ||||||||||||||||||||||||||||||   |||||||
 rgGlyAsnHisProValArgArgValValValHisProAspTyrArgGlnAspGluSerH
 GGGGAAACCATCCCGTCCGCCGCGTTGTTGTGCATCCAGACTACCGTCAGGACGAGTCCC

 isAsnPheSerGlyAspIleAlaLeuLeuGluLeuGlnHisSerIleProLeuGlyProA
 ||||||||   ||||||||||||||||||||||||||||||      |||||||||||| 
 isAsnPheAspGlyAspIleAlaLeuLeuGluLeuGlnHisGlnValProLeuGlyProH
 ACAACTTTGATGGGGACATCGCACTCCTGGAGCTCCAGCACCAGGTCCCCCTGGGCCCCC

 snValLeuProValCysLeuProAspAsnGluThrLeuTyrArgSerGlyLeuLeuGlyT
   |||||||||||||||||||||||||||||||||   ||||||||||||||||||||||
 isValLeuProValCysLeuProAspAsnGluThrPheTyrArgSerGlyLeuLeuGlyT
 ATGTCCTCCCGGTCTGTCTGCCTGACAACGAGACTTTCTACCGCAGCGGCTTGTTGGGCT

 yrValSerGlyPheGlyMetGluMetGlyTrpLeuThrThrGluLeuLysTyrSerArgL
 |||||||||||||||||   |||   |||||||||||||||   ||||||||||||||||
 yrValSerGlyPheGlyValGluAlaGlyTrpLeuThrThrLysLeuLysTyrSerArgL
 ACGTCAGTGGGTTTGGGGTGGAGGCAGGCTGGTTAACGACCAAGCTGAAGTACTCCAGGC

 euProValAlaProArgGluAlaCysAsnAlaTrpLeuGlnLysArgGlnArgProGluV
 ||||||||||||||||||||||||||   |||||||||      ||||||      ||||
 euProValAlaProArgGluAlaCysGluAlaTrpLeuArgGlnArgGlnSerThrGluV
 TGCCCGTGGCTCCGAGAGAGGCCTGTGAGGCCTGGCTCCGACAGAGGCAGAGCACTGAGG

 alPheSerAspAsnMetPheCysValGlyAspGluThrGlnArgHisSerValCysGlnG
 ||||||||   ||||||||||||||||||   |||||||||   ||||||   |||||||
 alPheSerGlyAsnMetPheCysValGlyAsnGluThrGlnIleHisSerAlaCysGlnG
 TGTTTTCCGGCAACATGTTCTGCGTCGGAAATGAGACGCAGATACACAGTGCCTGCCAGG

 lyAspSerGlySerValTyrValValTrpAspAsnHisAlaHisHisTrpValAlaThrG
 ||||||||||||||||||||||||||||||||   |||||||||   |||||||||||||
 lyAspSerGlySerValTyrValValTrpAspAspHisAlaHisArgTrpValAlaThrG
 GGGACAGTGGTAGTGTCTATGTGGTATGGGATGACCATGCCCATCGCTGGGTGGCCACGG

 lyIleValSerTrpGlyIleGlyCysGlyGluGlyTyrAspPheTyrThrLysValLeuS
 |||||||||||||||||||||||||||||   ||||||||||||||||||||||||||||
 lyIleValSerTrpGlyIleGlyCysGlyLysGlyTyrAspPheTyrThrLysValLeuS
 GTATCGTATCTTGGGGCATTGGGTGTGGCAAGGGGTATGACTTCTACACCAAAGTTCTCA

 erTyrValAspTrpIleLysGlyValMetAsnGlyLysAsn
 |||||||||||||||||      ||||||   |||      
 erTyrValAspTrpIleArgArgValMetAspGlyArgAsp
 GCTACGTGGACTGGATCCGGAGAGTGATGGATGGCAGGGAC


//