Basic information
Official Symbol BCL2L12
DescriptionBCL2-like 12 (proline rich)
Other AliasesNA
Other DescriptionBcl-2 related proline-rich protein; bcl-2-like protein 12; bcl-2-related proline-rich protein; bcl2-L-12
Mutation typeInsert and frame-shift 45-46:R-P^C
LocationScaffold000673_1:605088 596825 -

  ±  bp flank
WikiWikipedia GeneCard
Sequence
BCL2L12
CCCCCCTCATGCCCATTTTCGGCTTTCCGGCCACGGGCATGCTGGGAACG
TCATATGCAAATTAGGATGTGGCTTAGCGCTCCGCCCCCTCCACGTTGGG
GCGGTTACCAGCCTGCCTTAGTGCGCAGGCGCGGGAAAGTTGAACTAATA
AAGTTGGTACAAGTTGAGTGGCGGCGGGGGCGGAGGCGGAGACGGAGGCG
GAGTCGGTGGGGCCCTGGGCCAGGTGCCTCCATGGCAGGCTCTGGAGAGC
TGAGAGTCCAGGAGGACACACTGCGGGTCCTAGATGCCTTCCATAGGCGC
CGTGAGGCTGCCAGGACCCCTGTCCCAACCCCACCCAGGAGTCCTGCCCA
AGAGGAACCAACAGACTTCCTGAGCCGCCTTCGAAGATGTCTCCCCTGCC
CCCTGGGGCAGGGAGCAGCTCTCCCTGAGTCCCCGCGGCCTTGCTCTCTG
CCCCTCCAGCCCTGCTATGATTCAGAGCCTGGCCCAGCTACTCCACACTT
CTACGCCCTGGTCGCCCAGCGGCTGGAACAGCTAGTCCAAGAGCAACTGA
GATCTCCACCCAGCCCAGAGTTACAGGGTCCCCCACCCACAGAGAAGGAA
GCCCTGCTGCGAAGACTGGTGGCCTTGCTGGAGGAGGAGGCAGAAGTCAT
CAACCAGAAGCTGGCCTCAGACCCTGCTCTTCGCCGGAAGCTCGTCCGTC
TGTCTGCTGGTTCTTTCGCTCGCCTCTTGGAGCTGTTCTTCAGCCGGTCC
GGCAGCCCTTGCTCCCGACGCTCAAGCCAAACGCTGCTGTGCCCTGGACC
CCCGCCGCCATCCCCAGAGCCCCTGGCCCGCCTGGCCCTTGCCATGGAGC
TGAGCCGGCGCGTGGCCCGACTGGGGGGCACCCTGGCTGGACTCAGCGTG
GAGCATGTGCACAGCTTTGCTCCCTGGATCCAGGCCCAAGGGGGCTGGGA
GGGTGTCCTGGCCGTTTCTCCTGTGGACTTGAACTTGCCCCTGGAC

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human3349334Insert and frame-shift 45-46:R-P^C
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
ProProLeuCysProPheLeuGlyPheArgProGluAlaCysTrpGluArgHisMetGlnIl
||||||   |||||||||      |||||||||   ||||||||||||||||||||||||||
ProProSerCysProPheSerAlaPheArgProArgAlaCysTrpGluArgHisMetGlnIl
CCCCCCTCATGCCCATTTTCGGCTTTCCGGCCACGGGCATGCTGGGAACGTCATATGCAAAT

eGluArgAlaProSerValProProPheLeuArgTrpAlaGlyTyrArg-ProGlyProVal
|            |||   ||||||      ||||||   ||||||   #|||      |||
eArgMetTrpLeuSerAlaProProProProArgTrpGlyGlyTyrGln#ProAlaLeuVal
TAGGATGTGGCTTAGCGCTCCGCCCCCTCCACGTTGGGGCGGTTACCAGCCCTGCCTTAGTG

ArgArgArgGlyLysValGluLeuIleLysPheValArgValGln  >>>> Target Int
||||||||||||||||||||||||||||||   |||   |||               33 bp
ArgArgArgGlyLysValGluLeuIleLysLeuValGlnValGlu--               
CGCAGGCGCGGGAAAGTTGAACTAATAAAGTTGGTACAAGTTGAGcc               

ron 1 >>>>  TrpArgArgProGlnValGluTrpArgArgArg<->ArgTrpGlyProGl
            |||||||||               |||||||||   ||||||||||||||
          -+TrpArgArgGlyArgArgArgArgArgArgArgSerArgTrpGlyProGl
          ggTGGCGGCGGGGGCGGAGGCGGAGACGGAGGCGGAGTCGGTGGGGCCCTGG

yPro{G}  >>>> Target Intron 2 >>>>  {ly}AlaSerMetAlaGlySerGluG
||||{|}            557 bp           {||}||||||||||||||||||   |
yPro{G}++                         ++{ly}AlaSerMetAlaGlySerGlyG
GCCA{G}gt                         ag{GT}GCCTCCATGGCAGGCTCTGGAG

luLeuGlyLeuArgGluAspThrLeuArgValLeuAlaAlaPheLeuArgArgGlyGluAla
|||||         |||||||||||||||||||||   ||||||   ||||||   ||||||
luLeuArgValGlnGluAspThrLeuArgValLeuAspAlaPheHisArgArgArgGluAla
AGCTGAGAGTCCAGGAGGACACACTGCGGGTCCTAGATGCCTTCCATAGGCGCCGTGAGGCT

AlaGlySerProValProThrProPro{Ar}  >>>> Target Intron 3 >>>>  {g
|||      ||||||||||||||||||{||}           1318 bp           {|
AlaArgThrProValProThrProPro{Ar}++                         ++{g
GCCAGGACCCCTGTCCCAACCCCACCC{AG}gt                         ag{G

}SerProAlaGlnGluGluProThrAspPheLeuSerArgLeuArgArgCysLeuProCysS
}|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| 
}SerProAlaGlnGluGluProThrAspPheLeuSerArgLeuArgArgCysLeuProCysP
}AGTCCTGCCCAAGAGGAACCAACAGACTTCCTGAGCCGCCTTCGAAGATGTCTCCCCTGCC

erLeuGlyArgGlyAlaAlaProSerGluSerProArgProCysSerLeuProIleArgPro
  ||||||   |||||||||      |||||||||||||||||||||||||||      |||
roLeuGlyGlnGlyAlaAlaLeuProGluSerProArgProCysSerLeuProLeuGlnPro
CCCTGGGGCAGGGAGCAGCTCTCCCTGAGTCCCCGCGGCCTTGCTCTCTGCCCCTCCAGCCC

CysTyrGlyLeuGluPro{G}  >>>> Target Intron 4 >>>>  {ly}ProAlaTh
||||||      ||||||{|}            485 bp           {||}||||||||
CysTyrAspSerGluPro{G}++                         ++{ly}ProAlaTh
TGCTATGATTCAGAGCCT{G}gt                         ag{GC}CCAGCTAC

rProAspPheTyrAlaLeuValAlaGlnArgLeuGluGlnLeuValGlnGluGlnLeuLysS
||||   |||||||||||||||||||||||||||||||||||||||||||||||||||   |
rProHisPheTyrAlaLeuValAlaGlnArgLeuGluGlnLeuValGlnGluGlnLeuArgS
TCCACACTTCTACGCCCTGGTCGCCCAGCGGCTGGAACAGCTAGTCCAAGAGCAACTGAGAT

erProProSerPro{G}  >>>> Target Intron 5 >>>>  {lu}LeuGlnGlyPro
||||||||||||||{|}            84 bp            {||}||||||||||||
erProProSerPro{G}++                         ++{lu}LeuGlnGlyPro
CTCCACCCAGCCCA{G}gt                         ag{AG}TTACAGGGTCCC

ProSerThrGluLysGluAlaIleLeuArgArgLeuValAlaLeuLeuGluGluGluAlaGl
|||   |||||||||||||||   ||||||||||||||||||||||||||||||||||||||
ProProThrGluLysGluAlaLeuLeuArgArgLeuValAlaLeuLeuGluGluGluAlaGl
CCACCCACAGAGAAGGAAGCCCTGCTGCGAAGACTGGTGGCCTTGCTGGAGGAGGAGGCAGA

uValIleAsnGlnLys  >>>> Target Intron 6 >>>>  LeuAlaSerAspProAl
||||||||||||||||            514 bp           |||||||||||||||||
uValIleAsnGlnLys++                         ++LeuAlaSerAspProAl
AGTCATCAACCAGAAGgt                         agCTGGCCTCAGACCCTGC

aLeuArgSerLysLeuValArgLeuSerSerAspSerPheAlaArgLeuValGluLeuPheC
|||||||   ||||||||||||||||||      |||||||||||||||   ||||||||| 
aLeuArgArgLysLeuValArgLeuSerAlaGlySerPheAlaArgLeuLeuGluLeuPheP
TCTTCGCCGGAAGCTCGTCCGTCTGTCTGCTGGTTCTTTCGCTCGCCTCTTGGAGCTGTTCT

ysSerArgAspAspSer<-><-><-><-><->SerArgProSerArgAlaCysProGlyPro
  ||||||      |||               |||               ||||||||||||
heSerArgSerGlySerProCysSerArgArgSerSerGlnThrLeuLeuCysProGlyPro
TCAGCCGGTCCGGCAGCCCTTGCTCCCGACGCTCAAGCCAAACGCTGCTGTGCCCTGGACCC

ProProProSerProGluProLeuAlaArgLeuAlaLeuAlaMetGluLeuSerArgArgVa
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ProProProSerProGluProLeuAlaArgLeuAlaLeuAlaMetGluLeuSerArgArgVa
CCGCCGCCATCCCCAGAGCCCCTGGCCCGCCTGGCCCTTGCCATGGAGCTGAGCCGGCGCGT

lAlaGlyLeuGlyGlyThrLeuAlaGlyLeuSerValGluHisValHisSerPheThrProT
||||   ||||||||||||||||||||||||||||||||||||||||||||||||   ||||
lAlaArgLeuGlyGlyThrLeuAlaGlyLeuSerValGluHisValHisSerPheAlaProT
GGCCCGACTGGGGGGCACCCTGGCTGGACTCAGCGTGGAGCATGTGCACAGCTTTGCTCCCT

rpIleGlnAlaHisGlyGlyTrp  >>>> Target Intron 7 >>>>  GluGlyIleL
|||||||||||   |||||||||           4276 bp           ||||||   |
rpIleGlnAlaGlnGlyGlyTrp++                         ++GluGlyValL
GGATCCAGGCCCAAGGGGGCTGGgt                         agGAGGGTGTCC

euAlaValSerProValAspLeuAsnLeuProLeuAsp
||||||||||||||||||||||||||||||||||||||
euAlaValSerProValAspLeuAsnLeuProLeuAsp
TGGCCGTTTCTCCTGTGGACTTGAACTTGCCCCTGGAC


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