Basic information |
Official Symbol | PHF16 |
Description | PHD finger protein 16 |
Other Aliases | JADE3 |
Other Description | protein Jade-3 |
Mutation type | Insert and frame-shift 807-808:C-H^T |
Location | Scaffold138400_2:329048 279345 - |
Wiki | Wikipedia GeneCard |
Sequence |
PHF16 |
TCCCAGGTGTTCCGGAAGGACCTCATCAGTGCCATGAAACTTCCAGATTC TCACCACATTAATCCTGACAGTTATTACCTCTTTGCGGATACATGGAAGG AAGAATGGGAAAAGGGAGTCCAGGTACCAGTCAGTCCAGACACTGTTCCA GAGCCTTCTCTCAGGATTATAGCTGAAAAGGAAAAAGATGTTTTGTTTAT TCAACCTCGGAAATATATCCGCTGTTCTACACCAGAGGCCACAGAACCTG GCTCTATCAACATCTCGCATCTGGCAGCATCTGTATGCCGCTATGACCTG GATGACATGGACATCTTCTGGCTCCAGGAACTCAATGAAGACCTTACACA AATGGGTTGTGAGCCAGTTGATGAGACTCTTATGGAAAAGACAGTAGAAG TCCTGGAACGTCATTGCCATGAAAATATGAACCATGCTATTAAGACAGAG GAAGGGCTAGGCATAGAGTATGATGAAGATGTGATCTGTGATGTGTGCCG GTCTCCAGACAGTGAAGAAGGGAATGATATGGTATTCTGTGATAAGTGTA ACATCTGTGTGCATCAGGCCTGCTATGGCATCCTTAAGGTTCCAGAAGGC AGCTGGCTATGTCGTGCCTGTGTCATGGGCATTCATCCTCAGTGTCTGTT ATGTCCAAAGACTGGTGGAGCCATGAAGACCACCAGGACAGGGGATAAAT GGGCTCATGTCAGCTGTGCCCTGTGGATTCCAGAGGTCAACATTGCTTGT CCTGAGAGGATGGAACCAATTACAAAGATCTCTCACATCCCACCCAGTCG GTGGGCCTTAGTCTGCAACCTGTGCAAGATGAAAACAGGAGCTTGCATTC AGTGCTCAGTGAAAAGCTGTATAACTGCCTTCCATGTCACCTGTGCCTTT GAGCACAATCTCGAGATGAAGACCATTCTAGATGATGAGGATGAAGTGAA GTTCAAATCATACTGTCTTAAACATAGCCAAAACAGACAGAAGATTGGGG AAGCTGAGTACCCCCACCACTGGGCTGCAGAGCAAAGCCAAGCTAAAAGT GAGAAAACTAGCCTGCGGGCCCAGAAGCTTCGGGAGCTAGAAGAGGACTT CTACACCCTGGTCCGAGTAGAAGATGTGGCCAAAGAACTGGAGCTGCCCA TGCTAGTTGTGGATTTTATCTATAACTACTGGAAACTAAAGCGTAAAAGT AACTTCAATAAGCCATTATTCCCTCCAAAGGAGGACGAAGGAAATGGCCT GGTACAGCCAAAAGAGGAAAGTGTTCACACTCGTATGAGAATGTTTATGC ACCTTCGGCAAGACTTGGAAAGGGTCCGAAATCTGTGCTACATGATAAGC AGACGAGAGAAGATGAAATTGTCACAGAGCAGGCTACAGGAACAGATCTT CGGTTTGCAGGTTCAGCTTGTTAACCAAGAAATGGCTGCAGGACTTCCTT TGACCAATACACTAGAAAACTCATTGTTTTACCCACCACCGAGAATTACC TTAAAGTTAAAAATGCCCAGATCAGCTGCAGAAGACTGCAGAAACAGCTC TACAGAAACTGACCAACAATCCCACTCTACTGACAGTGGCTCCCCTGTTC ACAGTGTAAAGAGCATGCAGGTACCTCAGGAGTCACTAGAAATGAGAATG AAACCATATCCAAGGTACTCACTAGAAAGCAAGAATAATGGTTTGCTGGC CAGCCTCAACCATTCTAGGAGTGAAGAAAAGGATTCCAGTCCTGCTTGGA AAGCTCCATCTTCAGAGTTCTATCATGGGCAGTCATTGGGCAAACCTCTG GCCTTTCAGGCTGCCATCCATGGACAGTCTACTGTTGGGAATGGGAAAAG TCAACCAAACTCCAAGTTTACCAGATCCAATGGTCTGGAGGGCAGCTGGT CTGGGAATGTCACCCAAAAAGATAGCTCGAGTGAGATGTTCTATAACCAG GAGTCTATGCTTGGCTCCCACTTGGTCAGTCAGGGAAACTTGAGAAAATC TACCATGGAACACTTCAGCAGATCATTCAAGGAGGCCACCAACAGGTGGA TGAGAACCACAGCAGACCTCCAGTGCTATGTGAAGCCAACCAAGAATATG AGCCCCAAGGAGCAGTGCTGGGGTAGGCAGCTTCTCAGGCGGTCTGCAGG GAAAGCTCCATATCAGGAAAACGATGGATATTGCCCAGATTTGGAGCCGA GTGATTCAGAAGCAGAAGGTGATGAGAGTAAAGGAAAAGTCAGGGTAAGG AGAGATAACTCGGACAGGGAAAATCCTTCCCATGACTCCAGACGAGATTG TCACGTTAAAAACAAGACACAT |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 823 | 41 | 814 | Insert and frame-shift 807-808:C-H^T |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> AlaGluValPheArgLysAspLeuIleSerAlaMetLysLeuProAspSerHisHisIle |||||||||||||||||||||||||||||||||||||||||||||||||||||| SerGlnValPheArgLysAspLeuIleSerAlaMetLysLeuProAspSerHisHisIle TCCCAGGTGTTCCGGAAGGACCTCATCAGTGCCATGAAACTTCCAGATTCTCACCACATT AsnProAspSerTyrTyrLeuPheAlaAspThrTrpLysGluGluTrpGluLysGlyVal |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| AsnProAspSerTyrTyrLeuPheAlaAspThrTrpLysGluGluTrpGluLysGlyVal AATCCTGACAGTTATTACCTCTTTGCGGATACATGGAAGGAAGAATGGGAAAAGGGAGTC GlnValProAlaSerProAspThrValProGlnProSerLeu{Ar} >>>> Target ||||||||| |||||||||||||||||| |||||||||{||} 121 GlnValProValSerProAspThrValProGluProSerLeu{Ar}++ CAGGTACCAGTCAGTCCAGACACTGTTCCAGAGCCTTCTCTC{AG}gt Intron 1 >>>> {g}IleIleAlaGluLysValLysAspValLeuPheIleArgPro 11 bp {|}||||||||||||||| |||||||||||||||||| ||| ++{g}IleIleAlaGluLysGluLysAspValLeuPheIleGlnPro ag{G}ATTATAGCTGAAAAGGAAAAAGATGTTTTGTTTATTCAACCT ArgLysTyrIleHisCysSerSerProAspThrThrGluProGlyTyrIleAsnIleMet |||||||||||| |||||| ||| |||||||||||| ||||||||| ArgLysTyrIleArgCysSerThrProGluAlaThrGluProGlySerIleAsnIleSer CGGAAATATATCCGCTGTTCTACACCAGAGGCCACAGAACCTGGCTCTATCAACATCTCG GluLeuAlaAlaSerValCysArgTyrAspLeuAspAspMetAspIlePheTrpLeuGln ||||||||||||||||||||||||||||||||||||||||||||||||||||||||| HisLeuAlaAlaSerValCysArgTyrAspLeuAspAspMetAspIlePheTrpLeuGln CATCTGGCAGCATCTGTATGCCGCTATGACCTGGATGACATGGACATCTTCTGGCTCCAG GluLeuAsnGluAspLeuAlaGluMet{G} >>>> Target Intron 2 >>>> { |||||||||||||||||| |||{|} 2946 bp { GluLeuAsnGluAspLeuThrGlnMet{G}++ ++{ GAACTCAATGAAGACCTTACACAAATG{G}gt ag{ ly}CysGlyProValAspGluAsnLeuMetGluLysThrValGluValLeuGluArgHis ||}||| |||||||||||| |||||||||||||||||||||||||||||||||||| ly}CysGluProValAspGluThrLeuMetGluLysThrValGluValLeuGluArgHis GT}TGTGAGCCAGTTGATGAGACTCTTATGGAAAAGACAGTAGAAGTCCTGGAACGTCAT CysHisGluAsnMetAsnHisAlaIleGluThrGluGluGlyLeuGlyIleGluTyrAsp ||||||||||||||||||||||||||| |||||||||||||||||||||||||||||| CysHisGluAsnMetAsnHisAlaIleLysThrGluGluGlyLeuGlyIleGluTyrAsp TGCCATGAAAATATGAACCATGCTATTAAGACAGAGGAAGGGCTAGGCATAGAGTATGAT GluAspValIleCysAspValCysArgSerProAspSerGluGluGlyAsnAspMetVal |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GluAspValIleCysAspValCysArgSerProAspSerGluGluGlyAsnAspMetVal GAAGATGTGATCTGTGATGTGTGCCGGTCTCCAGACAGTGAAGAAGGGAATGATATGGTA PheCysAspLysCysAsnValCysValHisGln >>>> Target Intron 3 >>>> |||||||||||||||||| |||||||||||| 7501 bp PheCysAspLysCysAsnIleCysValHisGln++ TTCTGTGATAAGTGTAACATCTGTGTGCATCAGgt AlaCysTyrGlyIleLeuLysValProGluGlySerTrpLeuCysArgSerCysValL |||||||||||||||||||||||||||||||||||||||||||||||| |||||| ++AlaCysTyrGlyIleLeuLysValProGluGlySerTrpLeuCysArgAlaCysValM agGCCTGCTATGGCATCCTTAAGGTTCCAGAAGGCAGCTGGCTATGTCGTGCCTGTGTCA euGlyIleTyrProGlnCysValLeuCysProLysLysGlyGlyAlaLeuLysThrThrL |||||| ||||||||| |||||||||||| ||||||||| ||||||||| etGlyIleHisProGlnCysLeuLeuCysProLysThrGlyGlyAlaMetLysThrThrA TGGGCATTCATCCTCAGTGTCTGTTATGTCCAAAGACTGGTGGAGCCATGAAGACCACCA ysThrGlyThrLysTrpAlaHisValSerCysAlaLeuTrpIleProGlu >>>> Tar |||||| ||||||||||||||||||||||||||||||||||||||| rgThrGlyAspLysTrpAlaHisValSerCysAlaLeuTrpIleProGlu++ GGACAGGGGATAAATGGGCTCATGTCAGCTGTGCCCTGTGGATTCCAGAGgt get Intron 4 >>>> ValSerIleAlaCysProGluArgMetGluProIleThrLy 11335 bp ||| ||||||||||||||||||||||||||||||||||| ++ValAsnIleAlaCysProGluArgMetGluProIleThrLy agGTCAACATTGCTTGTCCTGAGAGGATGGAACCAATTACAAA sIleSerHisIleProProSerArgTrpAlaLeuValCysAsnLeuCysLysLeuLysTh |||||||||||||||||||||||||||||||||||||||||||||||||||| ||||| sIleSerHisIleProProSerArgTrpAlaLeuValCysAsnLeuCysLysMetLysTh GATCTCTCACATCCCACCCAGTCGGTGGGCCTTAGTCTGCAACCTGTGCAAGATGAAAAC rGlyAlaCysIleGln >>>> Target Intron 5 >>>> CysSerIleLysSer |||||||||||||||| 10221 bp |||||| |||||| rGlyAlaCysIleGln++ ++CysSerValLysSer AGGAGCTTGCATTCAGgt agTGCTCAGTGAAAAGC CysIleThrAlaPheHisValThrCysAlaPheGluHisGlyLeuGluMetLysThrIle ||||||||||||||||||||||||||||||||||||||| |||||||||||||||||| CysIleThrAlaPheHisValThrCysAlaPheGluHisAsnLeuGluMetLysThrIle TGTATAACTGCCTTCCATGTCACCTGTGCCTTTGAGCACAATCTCGAGATGAAGACCATT LeuAspGluGlyAspGluValLysPheLysSerTyrCysLeuLysHisSerGlnAsnArg |||||| |||||||||||||||||||||||||||||||||||||||||||||||| LeuAspAspGluAspGluValLysPheLysSerTyrCysLeuLysHisSerGlnAsnArg CTAGATGATGAGGATGAAGTGAAGTTCAAATCATACTGTCTTAAACATAGCCAAAACAGA GlnLysLeuGlyGluAlaGluTyrProHisHisArgAlaLysGluGlnSerGlnAlaLys |||||| |||||||||||||||||||||||| ||| |||||||||||||||||| GlnLysIleGlyGluAlaGluTyrProHisHisTrpAlaAlaGluGlnSerGlnAlaLys CAGAAGATTGGGGAAGCTGAGTACCCCCACCACTGGGCTGCAGAGCAAAGCCAAGCTAAA SerGluLysThrSerLeuArgAlaGlnLysLeuArgGluLeuGluGluGluPheTyrSer |||||||||||||||||||||||||||||||||||||||||||||||| |||||| SerGluLysThrSerLeuArgAlaGlnLysLeuArgGluLeuGluGluAspPheTyrThr AGTGAGAAAACTAGCCTGCGGGCCCAGAAGCTTCGGGAGCTAGAAGAGGACTTCTACACC LeuValArgValGluAspValAlaAlaGluLeuGlyMetProThrLeuAlaValAspPhe |||||||||||||||||||||||| |||||| ||| ||| ||||||||| LeuValArgValGluAspValAlaLysGluLeuGluLeuProMetLeuValValAspPhe CTGGTCCGAGTAGAAGATGTGGCCAAAGAACTGGAGCTGCCCATGCTAGTTGTGGATTTT IleTyrAsnTyrTrpLysLeuLysArgLysSerAsnPheAsnLysProLeuPheProPro |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| IleTyrAsnTyrTrpLysLeuLysArgLysSerAsnPheAsnLysProLeuPheProPro ATCTATAACTACTGGAAACTAAAGCGTAAAAGTAACTTCAATAAGCCATTATTCCCTCCA LysGluAspGluGluAsnGlyLeuValGlnProLysGluGluSerIleHisThrArgMet |||||||||||| |||||||||||||||||||||||||||||| |||||||||||| LysGluAspGluGlyAsnGlyLeuValGlnProLysGluGluSerValHisThrArgMet AAGGAGGACGAAGGAAATGGCCTGGTACAGCCAAAAGAGGAAAGTGTTCACACTCGTATG ArgMetPheMetHisLeuArgGlnAspLeuGluArg >>>> Target Intron 6 > |||||||||||||||||||||||||||||||||||| 1474 bp ArgMetPheMetHisLeuArgGlnAspLeuGluArg++ AGAATGTTTATGCACCTTCGGCAAGACTTGGAAAGGgt >>> ValArgAsnLeuCysTyrMetIleSerArgArgGluLysLeuLysLeuSerHisA ||||||||||||||||||||||||||||||||||||||| ||||||||| ++ValArgAsnLeuCysTyrMetIleSerArgArgGluLysMetLysLeuSerGlnS agGTCCGAAATCTGTGCTACATGATAAGCAGACGAGAGAAGATGAAATTGTCACAGA snLysIleGlnGluGlnIlePheGlyLeuGlnValGlnLeuLeuAsnGlnGluIleAspA ||||||||||||||||||||||||||||||||| ||||||||| | erArgLeuGlnGluGlnIlePheGlyLeuGlnValGlnLeuValAsnGlnGluMetAlaA GCAGGCTACAGGAACAGATCTTCGGTTTGCAGGTTCAGCTTGTTAACCAAGAAATGGCTG la{G} >>>> Target Intron 7 >>>> {ly}LeuProLeuThrAsnAlaLeuG ||{|} 1793 bp {||}||||||||||||||| |||| la{G}++ ++{ly}LeuProLeuThrAsnThrLeuG CA{G}gt ag{GA}CTTCCTTTGACCAATACACTAG luAsnSerLeuPheTyrProProProArgIleThrLeuLysLeuLysMetProLysSerT ||||||||||||||||||||||||||||||||||||||||||||||||||||| ||| luAsnSerLeuPheTyrProProProArgIleThrLeuLysLeuLysMetProArgSerA AAAACTCATTGTTTTACCCACCACCGAGAATTACCTTAAAGTTAAAAATGCCCAGATCAG hrProGluAspHisArgAsnSerSerThrGluThrAspGlnGlnProHisSerProAspS |||||| |||||||||||||||||||||||||||||| |||||| |||| laAlaGluAspCysArgAsnSerSerThrGluThrAspGlnGlnSerHisSerThrAspS CTGCAGAAGACTGCAGAAACAGCTCTACAGAAACTGACCAACAATCCCACTCTACTGACA erSerSerSerValHisSerIleArgAsnMetGlnValProGlnGluSerLeuGluMetA || ||| ||||||||| ||||||||||||||||||||||||||||||| erGlySerProValHisSerValLysSerMetGlnValProGlnGluSerLeuGluMetA GTGGCTCCCCTGTTCACAGTGTAAAGAGCATGCAGGTACCTCAGGAGTCACTAGAAATGA rgThrLysSerTyrProArgTyrProLeuGluSerLysAsnAsnArgLeuLeuAlaSerL || ||| |||||||||||| |||||||||||||||||| ||||||||||||| rgMetLysProTyrProArgTyrSerLeuGluSerLysAsnAsnGlyLeuLeuAlaSerL GAATGAAACCATATCCAAGGTACTCACTAGAAAGCAAGAATAATGGTTTGCTGGCCAGCC euSerHisSerArgSerGluAlaLysGluSerSerProAlaTrpArgThrProSerSerG || ||||||||||||||| ||| ||||||||||||||| |||||||||| euAsnHisSerArgSerGluGluLysAspSerSerProAlaTrpLysAlaProSerSerG TCAACCATTCTAGGAGTGAAGAAAAGGATTCCAGTCCTGCTTGGAAAGCTCCATCTTCAG luCysTyrHisGlyGlnSerLeuGlyLysProLeuValLeuGlnAlaAlaLeuHisGlyG || |||||||||||||||||||||||||||||| ||||||||| ||||||| luPheTyrHisGlyGlnSerLeuGlyLysProLeuAlaPheGlnAlaAlaIleHisGlyG AGTTCTATCATGGGCAGTCATTGGGCAAACCTCTGGCCTTTCAGGCTGCCATCCATGGAC lnSerSerIleGlyAsnGlyLysSerGlnProAsnSerLysPheAlaLysSerAsnGlyL ||||| ||||||||||||||||||||||||||||||||| |||||||||| lnSerThrValGlyAsnGlyLysSerGlnProAsnSerLysPheThrArgSerAsnGlyL AGTCTACTGTTGGGAATGGGAAAAGTCAACCAAACTCCAAGTTTACCAGATCCAATGGTC euGluGlySerTrpSerGlyAsnValThrGlnLysAspSerSerSerGluMetPheCysA |||||||||||||||||||||||||||||||||||||||||||||||||||||||| euGluGlySerTrpSerGlyAsnValThrGlnLysAspSerSerSerGluMetPheTyrA TGGAGGGCAGCTGGTCTGGGAATGTCACCCAAAAAGATAGCTCGAGTGAGATGTTCTATA spGlnGluProValPheSerProHisLeuValSerGlnGlySerPheArgLysSerThrV |||||| |||||||||||||||||| |||||||||||| snGlnGluSerMetLeuGlySerHisLeuValSerGlnGlyAsnLeuArgLysSerThrM ACCAGGAGTCTATGCTTGGCTCCCACTTGGTCAGTCAGGGAAACTTGAGAAAATCTACCA alGluHisPheSerArgSerPheLysGluThrThrAsnArgTrpValLysAsnThrGluA ||||||||||||||||||||||||||| |||||||||||| ||| | etGluHisPheSerArgSerPheLysGluAlaThrAsnArgTrpMetArgThrThrAlaA TGGAACACTTCAGCAGATCATTCAAGGAGGCCACCAACAGGTGGATGAGAACCACAGCAG spLeuGlnCysTyrValLysProThrLysAsnMetSerProLysGluGlnPheTrpGlyA |||||||||||||||||||||||||||||||||||||||||||||||||| ||||||| spLeuGlnCysTyrValLysProThrLysAsnMetSerProLysGluGlnCysTrpGlyA ACCTCCAGTGCTATGTGAAGCCAACCAAGAATATGAGCCCCAAGGAGCAGTGCTGGGGTA rgGlnValLeuArgArgSerAlaGlyArgAlaProTyrGlnGluAsnAspGlyTyrCysP ||||| |||||||||||||||||| ||||||||||||||||||||||||||||||| rgGlnLeuLeuArgArgSerAlaGlyLysAlaProTyrGlnGluAsnAspGlyTyrCysP GGCAGCTTCTCAGGCGGTCTGCAGGGAAAGCTCCATATCAGGAAAACGATGGATATTGCC roAspLeuGluLeuSerAspSerGluAlaGluSerAspGlyAsnLysGluLysValArgV ||||||||||| |||||||||||||||||| ||| ||| |||||||||| roAspLeuGluProSerAspSerGluAlaGluGlyAspGluSerLysGlyLysValArgV CAGATTTGGAGCCGAGTGATTCAGAAGCAGAAGGTGATGAGAGTAAAGGAAAAGTCAGGG alArgLysAspSerSerAspArgGluAsnProProHisAspSerArgArgAspCys-His ||||| ||| |||||||||||||||||| |||||||||||||||||||||#||| alArgArgAspAsnSerAspArgGluAsnProSerHisAspSerArgArgAspCys#His TAAGGAGAGATAACTCGGACAGGGAAAATCCTTCCCATGACTCCAGACGAGATTGTTCAC GlyLysSerLysThrHis ||| ||||||||| ValLysAsnLysThrHis GTTAAAAACAAGACACAT // |