Gene information

Basic information

Official Symbol	PTPN7
Description	protein tyrosine phosphatase, non-receptor type 7
Other Aliases	RP11-294K24.3, BPTP-4, HEPTP, LC-PTP, LPTP, PTPNI
Other Description	dual specificity phosphatase 1; hematopoietic protein-tyrosine phosphatase; protein-tyrosine phosphatase LC-PTP; protein-tyrosine phosphatase, nonreceptor-type, stress induced; tyrosine-protein phosphatase non-receptor type 7
Mutation type	Insert and frame-shift 123-124:L-G^G, Insert and frame-shift 41-42:M-Q^CG, Insert and frame-shift 61-62:W-S^TG, premature termination 33:R->TAA
Location	Scaffold000627_1:495609 481432 - ± bp flank
Wiki	Wikipedia GeneCard

Sequence

PTPN7

GCCCCTGGCAAGGGTGCTGGAACACCCCGGAGGGCACAGGCAGGAGACAC
CGACCCCTGGTGGCAGTAACAGCAGGCACAGGAGGGCAGCCAGCCGGGGT
GTGCGTGGGTGGCAGTGAGGAGGGGCGGAGGGAGGAAGCTGGCTTCCAAG
CTTCTCAGCCCTCAAAGACAGACCGACAGACAGACCGACAGCTGGCGAGG
AACAGCCTGGGGGACACAGCTGCTTCAGTGGACCTCATGGCTGAGTGAGT
CTTCCCTGGGCCAGCACCCCACCCCAGCATGGTGGGGGCACTCCAGAGCA
CAGACGCTGACCTTATCTTTGGGGGCAGCCATGACTCAGCCCCCACCTGC
CAAAGCACCAGCCAAGAAGCATGTGCGGCTGCAGGAGAGGCGGGGCTCCA
ACGTGGCTCTGATGTTGGATGTGAGGTCCCTGGGGGCCGTGGAGCCCATC
TGCTCGGTGAACACACCCCGGGAGGTGACTCTCCACTTCCTGCGCACAGC
TGGACACCCCCTCACATGCTGGGCCCTGCAGCACCAGCCCCCCAGCCCCA
AACAGTTGGAGGAGGAATTCTTGAAGATCCCCTCCAACTTCGTCAGTCCT
GAGGACCTGGATATCCCTGGCCACGCCTCCAAGGACCGATACAAGACCAT
CTTGCCCAATCCCCAGAGCCGAGTCTGTCTCGGCCGCGCACAGAGCCAGG
AGGACGGAGACTACATCAATGCCAACTATATCCGAGGCTATGGTGGGCAG
GAGAAGGCCTACATCGCCACGCAGGGCCCCATGCCCAACACCGTGTCGGA
CTTCTGGGAGATGGTGTGGCAAGAAGAAGTATCCCTCATTGTCATGCTCA
CTCAGCTCCGGGAAGGCAAGGAGAAATGTGTTCACTACTGGCCCACAGAA
GAGGAGACCTATGGACCCTTCCGGATCCGCGTCCAGGACGTGAAAGAGCA
CCCAGAGTACACTGTGCGGAGGCTCACCATTCAGTACCAGCAGGAGTGCC
GGTCAGTAAAGCACGTCCTCTTCTCAGCCTGGCCTGACCACCAGACCCCG
GAATCAGCCAGGCCTCTGCTGCGCCTGATGGCCGAGGTGGAGAGCCCAGA
GACAGCGGCCAACACGGGGCCCATCGTGGTACACTGCAGTGCAGGGATTG
GCCGGACCGGTTGCTTCATTGCCACTCGGATTGGCTGTCAACAGCTGCAG
GCCCGAGGGGAAGTGGACATTCTGGGCATCGTGTGCCAGCTGCGGCTTGA
CAGAGGGGGCATGATCCAGACCTCGGAGCAATACCAGTTCCTACACCACA
CTTTGGCCCTCTATGCAGCCCAGCTGCCCAAGGAGCCCAGTCCC

Alignment

Align specie	Pep length	Pep align begin	Pep align end	Mutaion type and postion
Human	465	11	465	Insert and frame-shift 123-124:L-G^G, Insert and frame-shift 41-42:M-Q^CG, Insert and frame-shift 61-62:W-S^TG, Premature termination 33:R->TAA

 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
 SerGlnGlyThrGlyProTrpAlaProGluGlyHisArgArgGluAlaAlaAspProTrp
       |||   |||         |||                        |||||||||
 AlaProGlyLysGlyAlaGlyThrProArgArgAlaGlnAlaGlyAspThrAspProTrp
 GCCCCTGGCAAGGGTGCTGGAACACCCCGGAGGGCACAGGCAGGAGACACCGACCCCTGG

 TrpGlnArgGlnGlnAlaGlnGluGlyArgMet--GlnLeuGlyCysAlaTrpValAlaA
 ||||||   ||||||||||||||||||      ##|||   |||||||||||||||||| 
 TrpGln***GlnGlnAlaGlnGluGly---Ser##GlnProGlyCysAlaTrpValAlaV
 TGGCAGTAACAGCAGGCACAGGAGGGC---AGCCGCAGCCGGGGTGTGCGTGGGTGGCAG

 laArgArgGlyGlyGlyArgLysLeuAlaSerTrp--SerLeuLeuSerProGlnArgGl
   ||||||||||||||||||||||||||||||   ##   ||||||||||||||||||||
 alArgArgGlyGlyGlyArgLysLeuAlaSer---##LysLeuLeuSerProGlnArgGl
 TGAGGAGGGGCGGAGGGAGGAAGCTGGCTTCC---TGAAGCTTCTCAGCCCTCAAAGACA

 nThrAspArgGlnThrAspSerTrpGlnGluAlaAlaTrpGlyProGlnLeuLeu{Gl} 
 |||||||||||||||||||||||||         |||||||||   |||||||||{||} 
 nThrAspArgGlnThrAspSerTrpArgGlyThrAlaTrpGlyThrGlnLeuLeu{Gl}+
 GACCGACAGACAGACCGACAGCTGGCGAGGAACAGCCTGGGGGACACAGCTGCTT{CA}g

  >>>> Target Intron 1 >>>>  {n}GlnThrSerTrpLeuSerGluProProLe
           1054 bp           {|}   ||||||||||||||||||      ||
 +                         ++{n}TrpThrSerTrpLeuSerGluSerSerLe
 t                         ag{G}TGGACCTCATGGCTGAGTGAGTCTTCCCT

 uGlyProAlaProHisLeuSerMetValGlnAlaHisGlyGlyArgSerArgAlaGlnPr
 ||||      |||                  |||      |||   ||||||||||||  
 uGlyGlnHisPro------------ThrProAlaTrpTrpGlyHisSerArgAlaGlnTh
 GGGCCAGCACCCC------------ACCCCAGCATGGTGGGGGCACTCCAGAGCACAGAC

 oLeuThrLeuSerLeu-GlyAlaAlaMetThrGlnProProProGluLysThrProAlaL
  |||||||||||||||#|||||||||||||||||||||||||||   |||   |||||||
 rLeuThrLeuSerLeu#GlyAlaAlaMetThrGlnProProProAlaLysAlaProAlaL
 GCTGACCTTATCTTTGGGGGGCAGCCATGACTCAGCCCCCACCTGCCAAAGCACCAGCCA

 ysLysHisValArgLeuGlnGlu{Ar}  >>>> Target Intron 2 >>>>  {g}A
 |||||||||||||||||||||||{||}            527 bp           {|}|
 ysLysHisValArgLeuGlnGlu{Ar}++                         ++{g}A
 AGAAGCATGTGCGGCTGCAGGAG{AG}gt                         ag{G}C

 rgGlySerAsnValAlaLeuMetLeuAspValArgSerLeuGlyAlaValGluProIleC
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 rgGlySerAsnValAlaLeuMetLeuAspValArgSerLeuGlyAlaValGluProIleC
 GGGGCTCCAACGTGGCTCTGATGTTGGATGTGAGGTCCCTGGGGGCCGTGGAGCCCATCT

 ysSerValAsnThrProArgGluValThrLeuHisPheLeuArgThrAlaGlyHisProL
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 ysSerValAsnThrProArgGluValThrLeuHisPheLeuArgThrAlaGlyHisProL
 GCTCGGTGAACACACCCCGGGAGGTGACTCTCCACTTCCTGCGCACAGCTGGACACCCCC

 euThrArgTrpAlaLeuGlnArgGlnProProSerProLysGlnLeuGluGluGluPheL
 |||||   ||||||||||||   |||||||||||||||||||||||||||||||||||||
 euThrCysTrpAlaLeuGlnHisGlnProProSerProLysGlnLeuGluGluGluPheL
 TCACATGCTGGGCCCTGCAGCACCAGCCCCCCAGCCCCAAACAGTTGGAGGAGGAATTCT

 eu  >>>> Target Intron 3 >>>>  LysIleProSerAsnPheValSerProGl
 ||            289 bp           |||||||||||||||||||||||||||||
 eu++                         ++LysIleProSerAsnPheValSerProGl
 TGgt                         agAAGATCCCCTCCAACTTCGTCAGTCCTGA

 uAspLeuAspIleProGlyHisAlaSerLysAspArgTyrLysThrIleLeuPro{A}  
 |||||||||||||||||||||||||||||||||||||||||||||||||||||||{|}  
 uAspLeuAspIleProGlyHisAlaSerLysAspArgTyrLysThrIleLeuPro{A}++
 GGACCTGGATATCCCTGGCCACGCCTCCAAGGACCGATACAAGACCATCTTGCCC{A}gt

 >>>> Target Intron 4 >>>>  {sn}ProGlnSerArgValCysLeuGlyArgAl
          3890 bp           {||}|||||||||||||||||||||||||||||
                          ++{sn}ProGlnSerArgValCysLeuGlyArgAl
                          ag{AT}CCCCAGAGCCGAGTCTGTCTCGGCCGCGC

 aGlnSerGlnGluAspGlyAspTyrIleAsnAlaAsnTyrIleArg  >>>> Target 
 ||||||||||||||||||||||||||||||||||||||||||||||           246
 aGlnSerGlnGluAspGlyAspTyrIleAsnAlaAsnTyrIleArg++            
 ACAGAGCCAGGAGGACGGAGACTACATCAATGCCAACTATATCCGAgt            

 Intron 5 >>>>  GlyTyrAspGlyLysGluLysValTyrIleAlaThrGlnGlyPro
 7 bp           ||||||   |||   ||||||   |||||||||||||||||||||
              ++GlyTyrGlyGlyGlnGluLysAlaTyrIleAlaThrGlnGlyPro
              agGGCTATGGTGGGCAGGAGAAGGCCTACATCGCCACGCAGGGCCCC

 MetProAsnThrValSerAspPheTrpGluMetValTrpGlnGluGluValSerLeuIle
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 MetProAsnThrValSerAspPheTrpGluMetValTrpGlnGluGluValSerLeuIle
 ATGCCCAACACCGTGTCGGACTTCTGGGAGATGGTGTGGCAAGAAGAAGTATCCCTCATT

 ValMetLeuThrGlnLeuArgGluGlyLysGlu  >>>> Target Intron 6 >>>>
 |||||||||||||||||||||||||||||||||            377 bp         
 ValMetLeuThrGlnLeuArgGluGlyLysGlu++                         
 GTCATGCTCACTCAGCTCCGGGAAGGCAAGGAGgt                         

   LysCysValHisTyrTrpProThrGluGluGluThrTyrGlyProPheGlnIleArgI
   ||||||||||||||||||||||||||||||||||||||||||||||||   |||||| 
 ++LysCysValHisTyrTrpProThrGluGluGluThrTyrGlyProPheArgIleArgV
 agAAATGTGTTCACTACTGGCCCACAGAAGAGGAGACCTATGGACCCTTCCGGATCCGCG

 leGlnAspMetLysGluCysProGluTyrThrValArgGlnLeuThrIleGln  >>>> 
   ||||||   ||||||   ||||||||||||||||||   ||||||||||||       
 alGlnAspValLysGluHisProGluTyrThrValArgArgLeuThrIleGln++     
 TCCAGGACGTGAAAGAGCACCCAGAGTACACTGTGCGGAGGCTCACCATTCAGgt     

 Target Intron 7 >>>>  TyrGlnGluGluArgArgSerValLysHisIleLeuPh
      691 bp           ||||||   |||   |||||||||||||||   |||||
                     ++TyrGlnGlnGluCysArgSerValLysHisValLeuPh
                     agTACCAGCAGGAGTGCCGGTCAGTAAAGCACGTCCTCTT

 eSerAlaTrpProAspHisGlnThrProGluSerAlaGlyProLeuLeuArgLeuValAl
 |||||||||||||||||||||||||||||||||||||   |||||||||||||||   ||
 eSerAlaTrpProAspHisGlnThrProGluSerAlaArgProLeuLeuArgLeuMetAl
 CTCAGCCTGGCCTGACCACCAGACCCCGGAATCAGCCAGGCCTCTGCTGCGCCTGATGGC

 aGluValGluGluSerProGluThrAlaAlaHisProGlyProIleValValHisCys{S
 |||||||   |||||||||||||||||||||      |||||||||||||||||||||{|
 aGluVal---GluSerProGluThrAlaAlaAsnThrGlyProIleValValHisCys{S
 CGAGGTG---GAGAGCCCAGAGACAGCGGCCAACACGGGGCCCATCGTGGTACACTGC{A

 e}  >>>> Target Intron 8 >>>>  {r}AlaGlyIleGlyArgThrGlyCysPh
 |}           2256 bp           {|}||||||||||||||||||||||||||
 e}++                         ++{r}AlaGlyIleGlyArgThrGlyCysPh
 G}gt                         ag{T}GCAGGGATTGGCCGGACCGGTTGCTT

 eIleAlaThrArgIleGlyCysGlnGlnLeuLysAlaArgGlyGluValAspIleLeuGl
 |||||||||||||||||||||||||||||||   ||||||||||||||||||||||||||
 eIleAlaThrArgIleGlyCysGlnGlnLeuGlnAlaArgGlyGluValAspIleLeuGl
 CATTGCCACTCGGATTGGCTGTCAACAGCTGCAGGCCCGAGGGGAAGTGGACATTCTGGG

 yIleValCysGlnLeuArgLeuAsp{Ar}  >>>> Target Intron 9 >>>>  {g
 |||||||||||||||||||||||||{||}           1278 bp           {|
 yIleValCysGlnLeuArgLeuAsp{Ar}++                         ++{g
 CATCGTGTGCCAGCTGCGGCTTGAC{AG}gt                         ag{A

 }GlyGlyMetIleGlnThrAlaGluGlnTyrGlnPheLeuHisHisThrLeuAlaLeuTy
 }||||||||||||||||||   ||||||||||||||||||||||||||||||||||||||
 }GlyGlyMetIleGlnThrSerGluGlnTyrGlnPheLeuHisHisThrLeuAlaLeuTy
 }GGGGGCATGATCCAGACCTCGGAGCAATACCAGTTCCTACACCACACTTTGGCCCTCTA

 rAlaGlyGlnLeuProGluGluProSerPro
 ||||   |||||||||   ||||||||||||
 rAlaAlaGlnLeuProLysGluProSerPro
 TGCAGCCCAGCTGCCCAAGGAGCCCAGTCCC


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