Basic information |
Official Symbol | BBC3 |
Description | BCL2 binding component 3 |
Other Aliases | JFY-1, JFY1, PUMA |
Other Description | bcl-2-binding component 3; p53 up-regulated modulator of apoptosis |
Mutation type | premature termination 144:Q->TAG |
Location | Scaffold000067_1:5075462 5067323 - |
Wiki | Wikipedia GeneCard |
Sequence |
BBC3 |
TCTGCCCGGGCATGTCCCTGCCAGGTGCCCGGGGGCTTCCCCCTCCTGAG TCCGCCAGCTCCGGCCACAGGCCCCAGGGAGCGCCATGGCCCGCGCACGC CAGGAGGGCAGCTCCCCGGAGCCCGTAGAGGGCTTGGCCCGCGACGGCCC GCGCCCCTTCCCGCTCGGCCGTCTGATGCCCTCAGCTGTGTCCTGCGGCC TCTGCGAGCCTGGCCTGCCCGCTGCCCCCGCCCCCCTGCTGCCTGCTGCC CACCTCNNNNNNNNNNCCCACCTCTGCGCCCCCACCGCAGCCCTGGGGGG CTCTCGCTGGCCTGGGGGGCCCCGCAGCCGGCCCCGAGGCCCGCGACCGG ACGGTCCTCAGCCATCTATCTCGCCAGCGGAGCAGCACCTGGAGTCTCCT GTACCTAGTGCCCCGGGGGCCCTGGCGGGCGGTCCCACCCAGGCGGCCCC GGGAGTCCGGGGGGAGGAGGAGCAGTGGGCCCGAGAGATCGGGGCCCAGC TGCGGCGGATGGCGGACGACCTCAACGCGCAGTACGAGCGGCGGAGACAA GAAGAGCAGCAACGGCACCGCCCCTCGCCCTGGAGGGTCCTGTACAATCT TATCCTGGGACTCCTGCCCTTACCCAGGGGCCACAGAGCCCCCGAGATGG AGCCCAATTAGGTGCCTGCACCCGCCCGGCCGACGTCAGGGCCTCGGGGG GCAGGACCCTCCGTCCTGACGCCCTGGCCAGCGCGGGGAACTTCTTCTGC ACCATG |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 261 | 7 | 261 | Premature termination 144:Q->TAG |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> SerAlaGlnAlaCysProCysGlnValProArgAlaAlaSerThrThrTrpValProCys |||||| ||||||||||||||||||||| ||| SerAlaArgAlaCysProCysGlnValProGlyGlyPheProLeuLeuSerProProAla TCTGCCCGGGCATGTCCCTGCCAGGTGCCCGGGGGCTTCCCCCTCCTGAGTCCGCCAGCT Gln{I} >>>> Target Intron 1 >>>> {le}CysGlyProArgGluArgHis { } 3371 bp { } |||||||||||||||||| Pro{A}++ --{la}ThrGlyProArgGluArgHis CCG{G}gt tc{CC}ACAGGCCCCAGGGAGCGCCAT GlyProArgThrProGlyGlyGlnLeuProGlyAlaArgArgGlyProGlyProArgArg ||||||||||||||||||||||||||||||||||||||||||||| |||||||||||| GlyProArgThrProGlyGlyGlnLeuProGlyAlaArgArgGlyLeuGlyProArgArg GGCCCGCGCACGCCAGGAGGGCAGCTCCCCGGAGCCCGTAGAGGGCTTGGCCCGCGACGG ProAlaProLeuProAlaArgProProGlyAlaLeuGlySerValLeuArgProLeuArg |||||||||||||||||||||||| |||||| |||||||||||||||||| ProAlaProLeuProAlaArgProSerAspAlaLeuSerCysValLeuArgProLeuArg CCCGCGCCCCTTCCCGCTCGGCCGTCTGATGCCCTCAGCTGTGTCCTGCGGCCTCTGCGA AlaArgProGlyCysArgProArgArgProHisProAlaAlaArgCysLeuProLeuArg ||| ||| |||||| ||||||||| ||| ||| AlaTrpProAlaArgCysProArg------ProProAlaAlaCysCysProProUnkUnk GCCTGGCCTGCCCGCTGCCCCCGC------CCCCCTGCTGCCTGCTGCCCACCTCNNNNN Pro{Hi} >>>> Target Intron 2 >>>> {s}ArgProThrArgArgHisArg { } 578 bp { } ||| ||| |||||| Unk{Un}-- -+{k}ProProLeuArgProHisArg NNN{NN}nn tg{C}CCACCTCTGCGCCCCCACCGC ArgProGlyGlyPheProLeuAlaTrpGlySerProGlnProAlaProArgProAlaPro ||||||||| |||||||||||| |||||||||||||||||||||||| SerProGlyGlyLeuSerLeuAlaTrpGlyAlaProGlnProAlaProArgProAlaThr AGCCCTGGGGGGCTCTCGCTGGCCTGGGGGGCCCCGCAGCCGGCCCCGAGGCCCGCGACC Gly{Ar} >>>> Target Intron 3 >>>> {g}SerSerAlaLeuAlaLeuAla |||{||} 1401 bp {|}||||||||| |||||| Gly{Ar}++ ++{g}SerSerAlaIleTyrLeuAla GGA{CG}gt ag{G}TCCTCAGCCATCTATCTCGCC GlyGlyAlaAlaProGlyValAlaArgAlaGlnArgProGlyGlySerGlyGlyArgSer |||||||||||||||||| ||||||||| |||||||||||| SerGlyAlaAlaProGlyValSerCysThr***CysProGlyGlyProGlyGlyArgSer AGCGGAGCAGCACCTGGAGTCTCCTGTACCTAGTGCCCCGGGGGCCCTGGCGGGCGGTCC HisProGlyGlyProGlySerProArgGlyGlyGlyThrValGlyProGlyAspArgGly |||||||||||||||||||||||| ||||||||| ||||||||| ||||||||| HisProGlyGlyProGlySerProGlyGlyGlyGlyAlaValGlyProArgAspArgGly CACCCAGGCGGCCCCGGGAGTCCGGGGGGAGGAGGAGCAGTGGGCCCGAGAGATCGGGGC ProAlaAlaAlaAspGlyGlyArgProGlnArgThrValArgAlaAla{G} >>>> Ta ||||||||||||||||||||||||||||||||| ||||||||||||{|} ProAlaAlaAlaAspGlyGlyArgProGlnArgAlaValArgAlaAla{G}++ CCAGCTGCGGCGGATGGCGGACGACCTCAACGCGCAGTACGAGCGGCG{G}gt rget Intron 4 >>>> {lu}ThrArgGlyAlaAlaAlaAlaProProLeuThrLeu 2034 bp {||}|||||| |||||| |||||||||||| ||| ++{lu}ThrArgArgAlaAlaThrAlaProProLeuAlaLeu ag{AG}ACAAGAAGAGCAGCAACGGCACCGCCCCTCGCCCTG GluGlyProValGlnSerHisHisGlyThrProAlaLeuThrGlnGlyProGlnSerPro |||||||||||||||||| |||||||||||||||||||||||||||||||||||| GluGlyProValGlnSerTyrProGlyThrProAlaLeuThrGlnGlyProGlnSerPro GAGGGTCCTGTACAATCTTATCCTGGGACTCCTGCCCTTACCCAGGGGCCACAGAGCCCC ArgAspGlyAlaGlnLeuGlyAlaCysThrArgProValAspValArgAspSerGlyGly |||||||||||||||||||||||||||||||||||| ||||||||| ||||||||| ArgAspGlyAlaGlnLeuGlyAlaCysThrArgProAlaAspValArgAlaSerGlyGly CGAGATGGAGCCCAATTAGGTGCCTGCACCCGCCCGGCCGACGTCAGGGCCTCGGGGGGC ArgProLeuProProProAspThrLeuAlaSerAlaGlyAspPheLeuCysThrMet ||| ||| |||||| ||||||||||||||| ||| ||||||||| ArgThrLeu---ArgProAspAlaLeuAlaSerAlaGlyAsnPhePheCysThrMet AGGACCCTC---CGTCCTGACGCCCTGGCCAGCGCGGGGAACTTCTTCTGCACCATG // |