Basic information
Official Symbol PHF16
DescriptionPHD finger protein 16
Other AliasesJADE3
Other Descriptionprotein Jade-3
Mutation typeInsert and frame-shift 807-808:C-H^T
LocationScaffold138400_2:329048 279345 -

  ±  bp flank
WikiWikipedia 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 speciePep lengthPep align beginPep align endMutaion type and postion
Human82341814Insert 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


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