Basic information |
Official Symbol | FASTKD2 |
Description | FAST kinase domains 2 |
Other Aliases | KIAA0971 |
Other Description | FAST kinase domain-containing protein 2 |
Mutation type | Delete and frame-shift 10:S->A |
Location | Scaffold000076_1:1647063 1670648 - |
Wiki | Wikipedia GeneCard |
Sequence |
FASTKD2 |
ATCTTGACAACATTCAAGCCATTTGGAAATTTTAGTGGACAACAAAATGAATAACAAAGC AGGTTCCTTTCTATGGAACCTCAGACAATTCAGTACTTTGGTTCCAACCAGCCGAACTAT GAGGCTATTTTCTTTGGGACTTTGCAAAACAAAAGTGGTTCATTCAGGCTGGAACCTCAA CAGCCTAAGTGACTTCCATAGCAGAATGCAATTATCTATTAGATATCTCTTTCAGGGTAC ATTCTTTTTAAAAACAGGAGCTGGCTGCTTTCAAACAAAGGGCATAAGCACTGTAGCAGC CATTAAAAGTGACAGACTACTTGGTCCTAGAAAGCTGTCCCTTGACTCAAAACATTCTCT TGTCCCTGTTGGTACTGCTGATAATGGAAATGAACAAAGTACGCTTTCATCAGGAGGTCC CCAATGAAGATATTGTCAGCAAGGAAATAAAACCAACCCCTATCACTTATAAAAAGCTGG CCCAGGAGTGTAATTCCCTAAGTGATGTGTTAGATACGTTTTCAAAAGCTCCTACATTTC CTAGTAGTAACTATTTCTCAGCAATGTGGACAATTGCCAAAAGGATGTCTGAGGACCAGA AGCGCTTTGAAAAACAACTGATGTTTAACCATCCTGCATTTAACCAGCTGTGTGAACATA TGTTGAGAGAAGTCAAGTTTTTGCACTATGACCAGTTGCTCTTCAGTCTTCATGCAATGG TGAAGCTTGGAATCCCTCAGAACACTCTTCTGATACAGACTTTGCTGAGGGTGATCCAGG AACGAATCAATGAGTGTGACGAGAAATGCCTTTCAGTTTTGTCAAATATTATAGAGGCGA TGGAGCCATGCAAGAATGTGCAAGTTCTGCGAGCGGGATTGTTACTAGTTGATCAGCAAG TTTGGAAGATAGAACGTGTCTTCACCTTGCAAACTGTGATGAAATGTATTGGAAAAGATG CACCACATGCTCTTAAAAGGAAACTAGAGATGAAAGCTTTGAGGGAATTAGACAAATTTT CTGTTCTGAATAGCCAGCGTATGTTCGAGGTGCTAGCTGCCATGAATCACCATTCTGCTG TTCTCCTGAATGAATGCAGTAAAACATTCATAAATATCCATGGGTGTCCTTTTAAAATAT TGATCAACATACTGCAGTCCTGCAAAGACCTCCGATACTTTAATATAGATCTCTACAAGG GAATAGCAGATTATGTGACTACAACTTTTGACATGTGGAAGTTTAAACAAGTTCTTTTTC TCCTTATTTTGTTTGAAGACCTTTGTTTCCGACCTGTTGATTTGATGGATTTGTTTATGA AAAAAGTAGAAGAAGAACCTGAATCCCTAACGGTGAAAAACATTGTTTCTATTCTTCACG TGTATTCTTCTCTGAATCACTTCTATAAGTGCCAGAACAAAGAATTCCTAGAAGTTATGG CTAGTGCTCTGACTGGTTGTCTTCACAACATCTCTTCTGAAAACCTGTTGCATGCTGTAT ACTCATTTGGTCTGATGAATTACTTCCCCCTGGCTCCTGTTAATCAGCTTCTCCAAAAGG ATATCGTCACTGAGTTGCTGACATCAATAGAGAGGAATGTTTACAAGCTCCATGTATTGG ATACTTGTCTAAAGCTCGATGATACACCTTATCAGAGGGCCGTGGGCCTGTCACTGCCAC AGCCACCCTTGACACCACCGTATCCAAATGCCAAGGTGGCAGAGGTGCTCAGTAGCCTTC TAGGAGGTGAAGGGTACTTCTCAAAAAATGTGCAGTTGCCACATAATTATCATATCTTTG AAATCAGAATGGATACTAATAGGAGTCAAGTGCTTCCGTTTTCTGATGTGGATGTAACTT CTACAGATATGCAAGTAGCTGTGCTGTGTGTGCCTAGATCTGCTTATTGTTTGGATCTAA GCCACCCCAGAGGATCCCTTGCTATGAAAATGCGGCATTTGAATGTGATGGGTTTTCATG TGATCTTGGTCAATAACTGGGAGATGAAAAAACAAGAGAGGGAAGATGCCATCACATTTT TGAAGAATAAAATTTATTCAGTCGAAGCCCTTCCTACTGCTGATGTAAATTTGCAAAGCA CG |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 710 | 1 | 709 | Delete and frame-shift 10:S->A |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> MetLeuThrThrLeuLysProPheGlySerValSerValGluSerLysMetAsn ||||||||| |||||||||||||## ||| ||||||||| IleLeuThrThrPheLysProPheGly---IleLeuValAspAsnLysMetAsn ATCTTGACAACATTCAAGCCATTTGGAA##ATTTTAGTGGACAACAAAATGAAT AsnLysAlaGlySerPhePheTrpAsnLeuArgGlnPheSerThrLeuValSer |||||||||||||||||| |||||||||||||||||||||||||||||| AsnLysAlaGlySerPheLeuTrpAsnLeuArgGlnPheSerThrLeuValPro AACAAAGCAGGTTCCTTTCTATGGAACCTCAGACAATTCAGTACTTTGGTTCCA ThrSerArgThrMetArgLeuCysCysLeuGlyLeuCysLysProLysIleVal ||||||||||||||||||||| ||||||||||||||| ||| ||| ThrSerArgThrMetArgLeuPheSerLeuGlyLeuCysLysThrLysValVal ACCAGCCGAACTATGAGGCTATTTTCTTTGGGACTTTGCAAAACAAAAGTGGTT HisSerAsnTrpAsnIleLeuAsnAsnPheHisAsnArgMetGlnSerThrAsp |||||| |||||| HisSerGlyTrpAsnLeuAsnSerLeuSerAspPheHisSerArgMetGlnLeu CATTCAGGCTGGAACCTCAACAGCCTAAGTGACTTCCATAGCAGAATGCAATTA IleIleArgTyrLeuPheGlnAspAlaPheIlePheLysSerAspValGly<-> |||||||||||||||||| ||| ||| ||| SerIleArgTyrLeuPheGlnGlyThrPhePheLeuLysThrGlyAlaGlyCys TCTATTAGATATCTCTTTCAGGGTACATTCTTTTTAAAAACAGGAGCTGGCTGC PheGlnThrLysGlyIleSerThrLeuThrAlaLeuArgIleGluArgLeuLeuTyr |||||||||||||||||||||||| ||| ||||||||| PheGlnThrLysGlyIleSerThrValAlaAlaIleLysSerAspArgLeuLeuGly TTTCAAACAAAGGGCATAAGCACTGTAGCAGCCATTAAAAGTGACAGACTACTTGGT AlaLysArgLeuPhePheAspSerLysGlnSerLeuValProValAspLysSerAspAsp ||| ||||||||| ||||||||||||||| ||| ProArgLysLeuSerLeuAspSerLysHisSerLeuValProValGlyThrAlaAspAsn CCTAGAAAGCTGTCCCTTGACTCAAAACATTCTCTTGTCCCTGTTGGTACTGCTGATAAT GluLeuLysLysValAsnLeuAsnHisGluValSerAsnGluAspValLeuThrLysGlu ||| |||||| |||||| ||||||||| |||||| GluMetAsnLysValArgPheHisGlnGluValProAsnGluAspIleValSerLysGlu GAAATGAACAAAGTACGCTTTCATCAGGAGGTCCCCAATGAAGATATTGTCAGCAAGGAA ThrLysProAsnArgIleSerSerArgLysLeuSerGluGluCysAsnSerLeuSerAsp |||||| ||| |||||| ||||||||||||||||||||| IleLysProThrProIleThrTyrLysLysLeuAlaGlnGluCysAsnSerLeuSerAsp ATAAAACCAACCCCTATCACTTATAAAAAGCTGGCCCAGGAGTGTAATTCCCTAAGTGAT ValLeuAspAlaPheSerLysAlaProThrPheProSerSerAsnTyrPheThrAlaMet ||||||||| ||||||||||||||||||||||||||||||||||||||| |||||| ValLeuAspThrPheSerLysAlaProThrPheProSerSerAsnTyrPheSerAlaMet GTGTTAGATACGTTTTCAAAAGCTCCTACATTTCCTAGTAGTAACTATTTCTCAGCAATG TrpThrIleAlaLysArgLeuSerAspAspGlnLysArgPheGluLysArgLeuMetPhe |||||||||||||||||| ||| ||||||||||||||||||||| ||||||||| TrpThrIleAlaLysArgMetSerGluAspGlnLysArgPheGluLysGlnLeuMetPhe TGGACAATTGCCAAAAGGATGTCTGAGGACCAGAAGCGCTTTGAAAAACAACTGATGTTT SerHisProAlaPheAsnGlnLeuCysGluHisMetMetArgGluAlaLysIleMetGln ||||||||||||||||||||||||||||||||| |||||| ||| AsnHisProAlaPheAsnGlnLeuCysGluHisMetLeuArgGluValLysPheLeuHis AACCATCCTGCATTTAACCAGCTGTGTGAACATATGTTGAGAGAAGTCAAGTTTTTGCAC TyrLysTyrLeuLeuPheSerLeuHisAlaIleValLysLeuGlyIleProGlnAsnThr ||| ||||||||||||||||||||| ||||||||||||||||||||||||||| TyrAspGlnLeuLeuPheSerLeuHisAlaMetValLysLeuGlyIleProGlnAsnThr TATGACCAGTTGCTCTTCAGTCTTCATGCAATGGTGAAGCTTGGAATCCCTCAGAACACT IleLeuValGlnThrLeuLeuArgValThrGln >>>> Target Intron 1 >>>> ||| |||||||||||||||||| ||| 3362 bp LeuLeuIleGlnThrLeuLeuArgValIleGln++ CTTCTGATACAGACTTTGCTGAGGGTGATCCAGgt GluArgIleAsnGluCysAspGluIleCysLeuSerValLeuSerThrValLeuGluA |||||||||||||||||||||||| |||||||||||||||||| |||| ++GluArgIleAsnGluCysAspGluLysCysLeuSerValLeuSerAsnIleIleGluA agGAACGAATCAATGAGTGTGACGAGAAATGCCTTTCAGTTTTGTCAAATATTATAGAGG laMetGluProCysLysAsnValHisValLeuArgThrGlyPhe{Ar} >>>> Targe ||||||||||||||||||||||| ||||||||| ||| {||} 1 laMetGluProCysLysAsnValGlnValLeuArgAlaGlyLeu{Ar}++ CGATGGAGCCATGCAAGAATGTGCAAGTTCTGCGAGCGGGATTG{AG}gt t Intron 2 >>>> {g}IleLeuValAspGlnGlnValTrpLysIleGluAspValP 157 bp {|} |||||||||||||||||||||||||||||| |||| ++{g}LeuLeuValAspGlnGlnValTrpLysIleGluArgValP ag{A}TTACTAGTTGATCAGCAAGTTTGGAAGATAGAACGTGTCT heThrLeuGlnValValMetLysCysIleGlyLysAspAlaProIleAlaLeuLysArgL ||||||||||| |||||||||||||||||||||||||||||| ||||||||||||| heThrLeuGlnThrValMetLysCysIleGlyLysAspAlaProHisAlaLeuLysArgL TCACCTTGCAAACTGTGATGAAATGTATTGGAAAAGATGCACCACATGCTCTTAAAAGGA ysLeuGlu >>>> Target Intron 3 >>>> MetLysAlaLeuArgGluLeuAs |||||||| 2657 bp ||||||||||||||||||||||| ysLeuGlu++ ++MetLysAlaLeuArgGluLeuAs AACTAGAGgt agATGAAAGCTTTGAGGGAATTAGA pArgPheSerValLeuAsnSerGlnHisMetPheGluValLeuAlaAlaMetAsnHisAr | ||||||||||||||||||||| |||||||||||||||||||||||||||||| pLysPheSerValLeuAsnSerGlnArgMetPheGluValLeuAlaAlaMetAsnHisHi CAAATTTTCTGTTCTGAATAGCCAGCGTATGTTCGAGGTGCTAGCTGCCATGAATCACCA gSerLeuIleLeuLeuAspGluCysSerLysValValLeu{A} >>>> Target Int ||| |||||| |||||||||||| {|} 244 b sSerAlaValLeuLeuAsnGluCysSerLysThrPheIle{A}++ TTCTGCTGTTCTCCTGAATGAATGCAGTAAAACATTCATA{G}gt ron 4 >>>> {sp}AsnIleHisGlyCysProLeuArgIleMetIleAsnIleLeuGl p {||}|||||||||||||||||| ||| |||||||||||||| ++{sp}AsnIleHisGlyCysProPheLysIleLeuIleAsnIleLeuGl ag{AT}AATATCCATGGGTGTCCTTTTAAAATATTGATCAACATACTGCA nSerCysLysAspLeuGlnTyrHisAsnLeuAspLeuPheLysGlyLeuAlaAspTyrVa |||||||||||||||| ||| ||| |||||| |||||| ||||||||||| nSerCysLysAspLeuArgTyrPheAsnIleAspLeuTyrLysGlyIleAlaAspTyrVa GTCCTGCAAAGACCTCCGATACTTTAATATAGATCTCTACAAGGGAATAGCAGATTATGT lAlaAlaThrPheAspIleTrpLysPheArgLys >>>> Target Intron 5 >>> | ||||||||| ||||||||| 1405 bp lThrThrThrPheAspMetTrpLysPheLysGln++ GACTACAACTTTTGACATGTGGAAGTTTAAACAAgt > ValLeuPheIleLeuIleLeuPheGluAsnLeuGlyPheArgProValGlyLeuMet ||||||||| ||||||||||||||| ||| |||||||||||| |||||| ++ValLeuPheLeuLeuIleLeuPheGluAspLeuCysPheArgProValAspLeuMet agGTTCTTTTTCTCCTTATTTTGTTTGAAGACCTTTGTTTCCGACCTGTTGATTTGATG AspLeuPheMetLysArgIleValGluAspProGluSerLeuAsnMetLysAsnIleLeu ||||||||||||||| ||| |||||||||||| ||||||||| AspLeuPheMetLysLysValGluGluGluProGluSerLeuThrValLysAsnIleVal GATTTGTTTATGAAAAAAGTAGAAGAAGAACCTGAATCCCTAACGGTGAAAAACATTGTT SerIleLeuHisThrTyrSerSerLeuAsnHisValTyrLysCysGlnAsnLys{Gl} |||||||||||| |||||||||||||||||| ||||||||||||||||||{||} SerIleLeuHisValTyrSerSerLeuAsnHisPheTyrLysCysGlnAsnLys{Gl}++ TCTATTCTTCACGTGTATTCTTCTCTGAATCACTTCTATAAGTGCCAGAACAAA{GA}gt >>>> Target Intron 6 >>>> {u}GlnPheValGluValMetAlaSerAlaLeu 4450 bp {|} ||| ||||||||||||||||||||| ++{u}GluPheLeuGluValMetAlaSerAlaLeu ag{A}GAATTCCTAGAAGTTATGGCTAGTGCTCTG ThrGlyTyrLeuHisThrIleSerSerGluAsnLeuLeuAspAlaValTyrSerPheCys |||||| |||||| ||||||||||||||||||||| ||||||||||||||| ThrGlyCysLeuHisAsnIleSerSerGluAsnLeuLeuHisAlaValTyrSerPheGly ACTGGTTGTCTTCACAACATCTCTTCTGAAAACCTGTTGCATGCTGTATACTCATTTGGT LeuMetAsnTyrPheProLeuAlaProPheAsnGlnLeuLeuGlnLysAspIleIleSer ||||||||||||||||||||||||||| |||||||||||||||||||||||| LeuMetAsnTyrPheProLeuAlaProValAsnGlnLeuLeuGlnLysAspIleValThr CTGATGAATTACTTCCCCCTGGCTCCTGTTAATCAGCTTCTCCAAAAGGATATCGTCACT GluLeuLeuThrSer{A} >>>> Target Intron 7 >>>> {sp}AspMetLys |||||||||||||||{|} 3082 bp {||} GluLeuLeuThrSer{A}++ -+{sp}IleGluArg GAGTTGCTGACATCA{G}gt tg{AC}ATAGAGAGG AsnAlaTyrLysLeuHisThrLeuAspThrCysLeuLysLeuAspAspThrValTyrLeu ||| |||||||||||| |||||||||||||||||||||||||||||| ||| AsnValTyrLysLeuHisValLeuAspThrCysLeuLysLeuAspAspThrProTyrGln AATGTTTACAAGCTCCATGTATTGGATACTTGTCTAAAGCTCGATGATACACCTTATCAG ArgAspIleAlaLeuSerLeuProGlnLeuProArgGluLeuProSerSerHisThrAsn ||| ||||||||||||||| ||| ||| ||| ArgAlaValGlyLeuSerLeuProGlnProPro------LeuThrProProTyrProAsn AGGGCCGTGGGCCTGTCACTGCCACAGCCACCC------TTGACACCACCGTATCCAAAT AlaLysValAlaGluValLeuSerSerLeuLeuGlyGlyGluGlyHisPheSerLysAsp ||||||||||||||||||||||||||||||||||||||||||||| ||||||||| AlaLysValAlaGluValLeuSerSerLeuLeuGlyGlyGluGlyTyrPheSerLysAsn GCCAAGGTGGCAGAGGTGCTCAGTAGCCTTCTAGGAGGTGAAGGGTACTTCTCAAAAAAT ValHisLeuProHisAsnTyrHisIle{A} >>>> Target Intron 8 >>>> { ||| |||||||||||||||||||||{|} 393 bp { ValGlnLeuProHisAsnTyrHisIle{A}++ ++{ GTGCAGTTGCCACATAATTATCATATC{G}gt ag{ sp}PheGluIleArgMetAspThrAsnArgAsnGlnValLeuProLeuSerAspValAsp ||}||||||||||||||||||||||||||| |||||||||||| |||||||||||| sp}PheGluIleArgMetAspThrAsnArgSerGlnValLeuProPheSerAspValAsp AT}TTTGAAATCAGAATGGATACTAATAGGAGTCAAGTGCTTCCGTTTTCTGATGTGGAT ThrThrSerAlaThrAspIleGln{Ar} >>>> Target Intron 9 >>>> {g} |||||| |||||| |||{||} 3019 bp {|} ValThrSer---ThrAspMetGln{Ar}++ ++{g} GTAACTTCT---ACAGATATGCAA{AG}gt ag{A} ValAlaValLeuCysValSerArgSerAlaTyrCysLeuGlySerSerHisProArgGly |||||||||||||||||| |||||||||||||||||| ||||||||||||||| ValAlaValLeuCysValProArgSerAlaTyrCysLeuAspLeuSerHisProArgGly GTAGCTGTGCTGTGTGTGCCTAGATCTGCTTATTGTTTGGATCTAAGCCACCCCAGAGGA PheLeuAlaMetLysMetArgHisLeuAsnAlaMetGlyPheHisValIleLeu >>>> ||||||||||||||||||||||||||| ||||||||||||||||||||| SerLeuAlaMetLysMetArgHisLeuAsnValMetGlyPheHisValIleLeu++ TCCCTTGCTATGAAAATGCGGCATTTGAATGTGATGGGTTTTCATGTGATCTTGgt Target Intron 10 >>>> ValAsnAsnTrpGluMetAspLysLeuGluMetGlu 1698 bp |||||||||||||||||| ||| ||| ||| ++ValAsnAsnTrpGluMetLysLysGlnGluArgGlu agGTCAATAACTGGGAGATGAAAAAACAAGAGAGGGAA AspAlaValThrPheLeuLysThrLysIleTyrSerValGluAlaLeuProValAlaAla |||||| |||||||||||| ||||||||||||||||||||||||||| ||| AspAlaIleThrPheLeuLysAsnLysIleTyrSerValGluAlaLeuProThrAlaAsp GATGCCATCACATTTTTGAAGAATAAAATTTATTCAGTCGAAGCCCTTCCTACTGCTGAT ValAsnValGlnSerThr |||||| ||||||||| ValAsnLeuGlnSerThr GTAAATTTGCAAAGCACG // |