| Basic information |
| Official Symbol | FOXP3 |
| Description | forkhead box P3 |
| Other Aliases | JM2, AIID, DIETER, IPEX, PIDX, XPID |
| Other Description | FOXP3delta7; forkhead box protein P3; immune dysregulation, polyendocrinopathy, enteropathy, X-linked; immunodeficiency, polyendocrinopathy, enteropathy, X-linked; scurfin |
| Mutation type | Insert and frame-shift 335-336:S-S^T, premature termination 345:S->TGA, premature termination 358:W->TGA, premature termination 372:W->TGA, Insert and frame-shift 379-380:E-V^G |
| Location | Scaffold142384_1:83407 92448 + |
| Wiki | Wikipedia GeneCard |
| Sequence |
| FOXP3 |
CTCAGCCCATCACCAGGAACCTCACCCAGCTGGAGGGCTGCACCCAAGGC CTCAGACCTGCTGGGGACCAGAGGCCCAGGGGGAACCTTTCAGGGCCGGG ACCTCCGAGGCGGGGCCCATGCCTCCTCCTCAAACCCCATGCCACCATCA CAGCTGCAGCTGTCAACGGTGGATGCCCACACTCGGACCCCCGTGCTACA GATGCGCTCGCTGGATACCCCAGCCACAATCAGCCTCCCGCCACCCACTG CTGCCGCCGGAGTCTTCTCCCTCAAGGCCCGGACTGGCCTGCCACCTGGG ATCAATGTGGCCAGCTTGGAGTGGGTGTCCAGGGAACCAGCACTGCTCTG CACCTTCCCAAGCCCCACTGCACCCAGGAAAGACAGCACCCTTTCAGTCT TGCCCCAGGGCTCCTACCCACTGCTGGCAAATGGCATCTGCAAGTGGCCT GGATGTGAGAAGGTCTTCAAGGAACCAGAGGACTTCCTCAAGCATTGCCA GGCAGACCACCTCCTGGATGAAAAGGGCAGGGCACAGTGTCTCCTCCAGA GAGAGGTGGTACAGTCTCTGGAGCAGCAGCTGATGCTGGAGAAGGAGAAG CTGGGCGCGATGCAAGCCCACCTGGCTGGGAAGATGGCACTGACCAAGGC TCCATCTGCGGCATCATCTGACAAGGGCTCCTGCTGCCTCATGACTGCTG GCACTCAAGGAGGCGTTGTCCCAGCCTGGCCAGGTCCACGGGAGGCCCCT GACAGCCTGTTTGCTGTGCGGAGGCACCTCTGGGGCAGCCATGGAAACAG TACATTCCCAGAGTTCTTTCACAATATGGACTACTTCAAGTTCCACAACA TGCGGCCTCCTTTCACCTATGCCACCCTCATCCGCTGGGCCATCCTGGAG GCTCCAGAGAAGCAGCGGACCCTCAATGAGATCTACCACTGGTTCACACG CATGTTCGCCTTCTTCAGAAACCATCCTGCCACATGGAAGGTGAGCTCCT TGGTGGTGGCACTGGCTTGGGTGGCCTGAGTGCCACCACAAAAAAGGAAC AGGCAAACCTGGGGCTGAGCTTACAAGCCTGTTAGCAAAGGGCAGGAGGT CAGTCACTGACAGGGACTCCTGACCTCAGAGGTGACTGGCCACCTGCTCC CCTGGCCTGGTCGGCCGATCCTCCTTCCACAGAATGCCATCCGTCACAAC CTGAGCCTGCACAAGTGCTTCGTGCGGGTGGAGAGCGAGAAGGGAGCTGT GTGGACCGTGGATGAGTTTGAGTTCCGCAAGAAAAGGAGCCAGCGGCCCA GCAGAGGCTCCAACCCTGCACCCAGCCCC |
| Alignment |
| Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
| Human | 441 | 1 | 441 | Insert and frame-shift 335-336:S-S^T, Premature termination 345:S->TGA, Premature termination 358:W->TGA, Premature termination 372:W->TGA, Insert and frame-shift 379-380:E-V^G |
Instructions:
*** -> premature termination codon; # -> frame shift
Alignment:
Human pep sequence --->
||||||||||||||||||||||
Treeshrew pep sequence --->
Treeshrew cds sequence --->
MetSerProIleSerGlyAlaSerProSerTrpArgAlaAlaProLysAlaSerAspLeu
|||||| ||| |||||||||||||||||||||||||||||||||||||||
LeuSerProSerProGlyThrSerProSerTrpArgAlaAlaProLysAlaSerAspLeu
CTCAGCCCATCACCAGGAACCTCACCCAGCTGGAGGGCTGCACCCAAGGCCTCAGACCTG
LeuGlyAlaArgGlyProGlyGlyThrPheGlnGlyArgAspLeuArgGlyGlyAlaHis
|||||| |||||||||||||||||||||||||||||||||||||||||||||||||||
LeuGlyThrArgGlyProGlyGlyThrPheGlnGlyArgAspLeuArgGlyGlyAlaHis
CTGGGGACCAGAGGCCCAGGGGGAACCTTTCAGGGCCGGGACCTCCGAGGCGGGGCCCAT
{A} >>>> Target Intron 1 >>>> {la}SerSerSerSerLeuAsnProMet
{|} 30 bp {||}||||||||| |||||||||
{A}-- --{la}SerSerSer------AsnProMet
{G}cc ct{CC}TCCTCCTCA------AACCCCATG
ProProSerGlnLeuGln >>>> Target Intron 2 >>>> LeuSerThrValA
|||||||||||||||||| 732 bp |||||||||||||
ProProSerGlnLeuGln++ ++LeuSerThrValA
CCACCATCACAGCTGCAGgt agCTGTCAACGGTGG
spAlaHisAlaArgThrProValLeuGlnValHisProLeuGluSerProAlaMetIleS
|||||||| |||||||||||||||||| ||| |||||| ||||
spAlaHisThrArgThrProValLeuGlnMetArgSerLeuAspThrProAlaThrIleS
ATGCCCACACTCGGACCCCCGTGCTACAGATGCGCTCGCTGGATACCCCAGCCACAATCA
erLeuThrProProThrThrAlaThrGlyValPheSerLeuLysAlaArgProGlyLeuP
||||| ||||||||| ||| |||||||||||||||||||||||| |||||||
erLeuProProProThrAlaAlaAlaGlyValPheSerLeuLysAlaArgThrGlyLeuP
GCCTCCCGCCACCCACTGCTGCCGCCGGAGTCTTCTCCCTCAAGGCCCGGACTGGCCTGC
roPro{G} >>>> Target Intron 3 >>>> {ly}IleAsnValAlaSerLeuG
|||||{|} 2175 bp {||}|||||||||||||||||||
roPro{G}++ ++{ly}IleAsnValAlaSerLeuG
CACCT{G}gt ag{GG}ATCAATGTGGCCAGCTTGG
luTrpValSerArgGluProAlaLeuLeuCysThrPheProAsnProSerAlaProArgL
||||||||||||||||||||||||||||||||||||||||| ||| ||||||||||
luTrpValSerArgGluProAlaLeuLeuCysThrPheProSerProThrAlaProArgL
AGTGGGTGTCCAGGGAACCAGCACTGCTCTGCACCTTCCCAAGCCCCACTGCACCCAGGA
ysAsp{Se} >>>> Target Intron 4 >>>> {r}ThrLeuSerAlaValProG
|||||{||} 69 bp {|}||||||||| ||||
ysAsp{Se}++ ++{r}ThrLeuSerValLeuProG
AAGAC{AG}gt ag{C}ACCCTTTCAGTCTTGCCCC
lnSerSerTyrProLeuLeuAlaAsnGlyValCysLysTrpProGlyCysGluLysValP
|| |||||||||||||||||||||||| ||||||||||||||||||||||||||||
lnGlySerTyrProLeuLeuAlaAsnGlyIleCysLysTrpProGlyCysGluLysValP
AGGGCTCCTACCCACTGCTGGCAAATGGCATCTGCAAGTGGCCTGGATGTGAGAAGGTCT
heGluGluProGluAspPheLeu{Ly} >>>> Target Intron 5 >>>> {s}H
|| ||||||||||||||||||{||} 934 bp {|}|
heLysGluProGluAspPheLeu{Ly}++ ++{s}H
TCAAGGAACCAGAGGACTTCCTC{AA}gt ag{G}C
isCysGlnAlaAspHisLeuLeuAspGluLysGlyArgAlaGlnCysLeuLeuGlnArgG
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
isCysGlnAlaAspHisLeuLeuAspGluLysGlyArgAlaGlnCysLeuLeuGlnArgG
ATTGCCAGGCAGACCACCTCCTGGATGAAAAGGGCAGGGCACAGTGTCTCCTCCAGAGAG
luMetValGlnSerLeuGluGlnGln >>>> Target Intron 6 >>>> LeuVa
|| ||||||||||||||||||||| 1045 bp |||
luValValGlnSerLeuGluGlnGln++ ++LeuMe
AGGTGGTACAGTCTCTGGAGCAGCAGgt agCTGAT
lLeuGluLysGluLysLeuSerAlaMetGlnAlaHisLeuAlaGlyLysMetAlaLeuTh
|||||||||||||||||| ||||||||||||||||||||||||||||||||||||||
tLeuGluLysGluLysLeuGlyAlaMetGlnAlaHisLeuAlaGlyLysMetAlaLeuTh
GCTGGAGAAGGAGAAGCTGGGCGCGATGCAAGCCCACCTGGCTGGGAAGATGGCACTGAC
rLysAlaSerSerVal >>>> Target Intron 7 >>>> AlaSerSerAspLys
||||||| ||| 736 bp |||||||||||||||
rLysAlaProSerAla++ ++AlaSerSerAspLys
CAAGGCTCCATCTGCGgt agGCATCATCTGACAAG
GlySerCysCysIleValAlaAlaGlySerGlnGlyProValValProAlaTrpSerGly
|||||||||||| |||||| |||||| ||||||||||||||| |||
GlySerCysCysLeuMetThrAlaGlyThrGlnGlyGlyValValProAlaTrpProGly
GGCTCCTGCTGCCTCATGACTGCTGGCACTCAAGGAGGCGTTGTCCCAGCCTGGCCAGGT
ProArgGluAlaProAspSerLeuPheAlaValArgArgHisLeuTrpGlySerHisGly
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ProArgGluAlaProAspSerLeuPheAlaValArgArgHisLeuTrpGlySerHisGly
CCACGGGAGGCCCCTGACAGCCTGTTTGCTGTGCGGAGGCACCTCTGGGGCAGCCATGGA
AsnSerThrPhePro{G} >>>> Target Intron 8 >>>> {lu}PheLeuHis
|||||||||||||||{|} 688 bp {||}||| |||
AsnSerThrPhePro{G}++ ++{lu}PhePheHis
AACAGTACATTCCCA{G}gt ag{AG}TTCTTTCAC
AsnMetAspTyrPheLysPheHisAsnMetArgProProPheThrTyrAlaThrLeuIle
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AsnMetAspTyrPheLysPheHisAsnMetArgProProPheThrTyrAlaThrLeuIle
AATATGGACTACTTCAAGTTCCACAACATGCGGCCTCCTTTCACCTATGCCACCCTCATC
ArgTrp >>>> Target Intron 9 >>>> AlaIleLeuGluAlaProGluLysG
|||||| 1302 bp |||||||||||||||||||||||||
ArgTrp++ ++AlaIleLeuGluAlaProGluLysG
CGCTGGgt agGCCATCCTGGAGGCTCCAGAGAAGC
lnArgThrLeuAsnGluIleTyrHisTrpPheThrArgMetPheAlaPhePheArgAsnH
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
lnArgThrLeuAsnGluIleTyrHisTrpPheThrArgMetPheAlaPhePheArgAsnH
AGCGGACCCTCAATGAGATCTACCACTGGTTCACACGCATGTTCGCCTTCTTCAGAAACC
isProAlaThrTrpLysValSerSer-SerGluValAlaValThrGlyMetAlaSerSer
||||||||||||||||||||||||||# |||||| |||
isProAlaThrTrpLysValSerSer#LeuValValAlaLeuAlaTrpValAla***Val
ATCCTGCCACATGGAAGGTGAGCTCCTTTGGTGGTGGCACTGGCTTGGGTGGCCTGAGTG
AlaIleAlaAlaGlnSerGlyGlnAlaTrpValTrpAlaHisArgHisIleGlyGluGlu
||| ||| |||
ProProGlnLysArgAsnArgGlnThrTrpGly***AlaTyrLysProValSerLysGly
CCACCACAAAAAAGGAACAGGCAAACCTGGGGCTGAGCTTACAAGCCTGTTAGCAAAGGG
ArgAspValGlyCysTrpTrpTrpLeuLeuAlaSerGlu-ValAspAlaHisLeuLeuPr
||| |||||| ||||||#||| |||||||||||
GlnGluValSerHis***GlnGlyLeuLeuThrSerGlu#ValThrGlyHisLeuLeuPr
CAGGAGGTCAGTCACTGACAGGGACTCCTGACCTCAGAGGGTGACTGGCCACCTGCTCCC
oValProGly<-><-><-><->LeuProGlnAsnAlaIleArgHisAsnLeuSerLeuHi
| |||||| ||||||||||||||||||||||||||||||||||||||
oTrpProGlyArgProIleLeuLeuProGlnAsnAlaIleArgHisAsnLeuSerLeuHi
CTGGCCTGGTCGGCCGATCCTCCTTCCACAGAATGCCATCCGTCACAACCTGAGCCTGCA
sLysCysPheValArgValGluSerGluLysGlyAlaValTrpThrValAspGluLeuGl
||||||||||||||||||||||||||||||||||||||||||||||||||||||| ||
sLysCysPheValArgValGluSerGluLysGlyAlaValTrpThrValAspGluPheGl
CAAGTGCTTCGTGCGGGTGGAGAGCGAGAAGGGAGCTGTGTGGACCGTGGATGAGTTTGA
uPheArgLysLysArgSerGlnArgProSerArgCysSerAsnProThrProGlyPro
|||||||||||||||||||||||||||||||||| ||||||||| ||| |||
uPheArgLysLysArgSerGlnArgProSerArgGlySerAsnProAlaProSerPro
GTTCCGCAAGAAAAGGAGCCAGCGGCCCAGCAGAGGCTCCAACCCTGCACCCAGCCCC
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