Basic information |
Official Symbol | BCL2L12 |
Description | BCL2-like 12 (proline rich) |
Other Aliases | NA |
Other Description | Bcl-2 related proline-rich protein; bcl-2-like protein 12; bcl-2-related proline-rich protein; bcl2-L-12 |
Mutation type | Insert and frame-shift 45-46:R-P^C |
Location | Scaffold000673_1:605088 596825 - |
Wiki | Wikipedia 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 specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 334 | 9 | 334 | Insert 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 // |