| Basic information |
| Official Symbol | HELT |
| Description | helt bHLH transcription factor |
| Other Aliases | HCM1228, HESL, Mgn, bHLHb44 |
| Other Description | HES/HEY-like transcription factor; Heslike; Hey-like transcription factor; Hey-like transcriptional repressor; Megane bHLH factor; hairy and enhancer of split-related protein HELT |
| Mutation type | Insert and frame-shift 47-48:L-V^T |
| Location | Scaffold000685_1:2466296 2468158 + |
| Wiki | Wikipedia GeneCard |
| Sequence |
| HELT |
ATGTCAGACAAACTCAAGGAACGCAAAGTGAGTCGGCTGAGCCCCAAGGGTCCTTGCGCC CTGGCGGTGGAGGCGTCTGACTCACCGACCTGCCTTCTAGCTGGGGCGTGGTCACAGGGG GGGGGGCTAGCGTGTGGAGGAATCTCGAGTGAGAACCCCCGTTTCTCATAAAGTGATAGA AAAACGACGAAGAGACCGGATCAACCGCTGCTTGAACGAGCTGGGCAAGACGGTACCCAT GGCCCTGGCAAAACAGGTAACGTCGGTGGTCTGTACCCGGTGCTCCTCCCCATACAAAAT CGTGCTCGCTCGCCTGGCCACTGGGGTGGGCCTGCGATCGCTGGGCCGCTGCGAGAAGCC CCTCCTTTTGCAGAGCTCGGGGAAGCTGGAGAAGGCGGAGATCCTGGAGATGACCGTTCA GTACCTGAGAGCCCTGCACTCTGCTGACTTTCCCCGGGGAAGGGAAAAAGAACTTCTCGC GGAGTTTGCCAACTACTTCCACTACGGCTACCATGAGTGCATGAAAAACCTGGTGCATTA CCTCACCACCGTGGAGCGCATGGAGACCAAGGACACCAAGTACGCGCGCATCCTCGCCTT CTTGCAGTCCAAGGCCCGCCTGGGCGCTGAGCCCACCTTCCCGTCGCTGGGTTCGCTCCC GGAGCCGGATTTCTCCTATCAGCTGCACCCGGCGGGGCCGGACTTCACCGGCCACGGCAC CAGCGAGGCCGCTGTGTTCCCGCAGGGCGCTGCCCCGGGACCTTTCCCCTGGCCCCACGG CGCAGCCCGCAGCCCGGCACTGCCCTACCTGCCCAGCGCTCTGGTACCTCTGGCGAGCCC GGCGCAGCAGCACAGCCCCTTCCTGGCCCCGGTGCAGGGCCTGGACCGGCATTATCTCAA CCTGATCAGCCACGCCCACCCCAACGCCCTCAACCTGCACACGCCCCAGCACCCGCCGGT GCTC |
| Alignment |
| Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
| Human | 327 | 1 | 327 | Insert and frame-shift 47-48:L-V^T |
Instructions:
*** -> premature termination codon; # -> frame shift
Alignment:
Human pep sequence --->
||||||||||||||||||||||
Treeshrew pep sequence --->
Treeshrew cds sequence --->
MetSerAspLysLeuLysGluArgLysValSerArgLeuSerProAsnGlyThrCysAlaLe
||||||||||||||||||||||||||||||||||||||||||||| ||| ||||||||
MetSerAspLysLeuLysGluArgLysValSerArgLeuSerProLysGlyProCysAlaLe
ATGTCAGACAAACTCAAGGAACGCAAAGTGAGTCGGCTGAGCCCCAAGGGTCCTTGCGCCCT
uValValGluAlaSerAspSerProThrArgHisLeuGlyGlyProMetAlaGlyLysCysP
| |||||||||||||||||||||||| ||| |||
uAlaValGluAlaSerAspSerProThrCysLeuLeuAlaGlyAlaTrpSer---------G
GGCGGTGGAGGCGTCTGACTCACCGACCTGCCTTCTAGCTGGGGCGTGGTCA---------C
roHisGlyThrLeuSer-ValGluGluSerArgVal >>>> Target Intron 1 >>>
||| ||| #|||||||||||||||||| 322 bp
lnGlyGlyGlyLeu #ValGluGluSerArgVal
AGGGGGGGGGGCTAGCGTGTGGAGGAATCTCGAGTGgt
> ArgThrProValSerHisLysValIleGluLysArgArgArgAspArgIleAsnArgCys
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ArgThrProValSerHisLysValIleGluLysArgArgArgAspArgIleAsnArgCys
caAGAACCCCCGTTTCTCATAAAGTGATAGAAAAACGACGAAGAGACCGGATCAACCGCTGC
LeuAsnGluLeuGlyLysThrValProMetAlaLeuAlaLysGlnGlyGluProGlnGlu
|||||||||||||||||||||||||||||||||||||||||||||
LeuAsnGluLeuGlyLysThrValProMetAlaLeuAlaLysGlnValThrSerValVal
TTGAACGAGCTGGGCAAGACGGTACCCATGGCCCTGGCAAAACAGGTAACGTCGGTGGTC
AlaLeuAlaGln{Il} >>>> Target Intron 2 >>>> {e}ArgSerArgVal
{ } 167 bp { } |||
CysThrArgCys{Ar}+- -+{g}SerSerProTyr
TGTACCCGGTGC{CG}gg tg{G}TCCTCCCCATAC
ArgSerLeuValLeuSerSerAlaThrValProAspGlnGlnAlaLeuGlyArgCysGluGl
|||||| |||||||||||||||
LysIleValLeuAlaArgLeuAlaThrGlyValGlyLeuArgSerLeuGlyArgCysGluLy
AAAATCGTGCTCGCTCGCCTGGCCACTGGGGTGGGCCTGCGATCGCTGGGCCGCTGCGAGAA
yProPheLeuLeuLeuGlnSerSerGlyLysLeuGluLysAlaGluIleLeuGluMetThrV
||| |||||||||||||||||||||||||||||||||||||||||||||||||||||||
sPro---LeuLeuLeuGlnSerSerGlyLysLeuGluLysAlaGluIleLeuGluMetThrV
GCCC---CTCCTTTTGCAGAGCTCGGGGAAGCTGGAGAAGGCGGAGATCCTGGAGATGACCG
alGlnTyrLeuArgAlaLeuHisSerAlaAspPheProArgGlyArgGluLys{A} >>>>
|||||||||||||||||||||||||||||||||||||||||||||||||||||{|}
alGlnTyrLeuArgAlaLeuHisSerAlaAspPheProArgGlyArgGluLys{A}++
TTCAGTACCTGAGAGCCCTGCACTCTGCTGACTTTCCCCGGGGAAGGGAAAAA{G}gt
Target Intron 3 >>>> {la}GluLeuLeuAlaGluPheAlaAsnTyrPheHisTy
396 bp {||}|||||||||||||||||||||||||||||||||||
++{la}GluLeuLeuAlaGluPheAlaAsnTyrPheHisTy
ag{CA}GAACTTCTCGCGGAGTTTGCCAACTACTTCCACTA
rGlyTyrHisGluCysMetLysAsnLeuValHisTyrLeuThrThrValGluArgMetGluT
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
rGlyTyrHisGluCysMetLysAsnLeuValHisTyrLeuThrThrValGluArgMetGluT
CGGCTACCATGAGTGCATGAAAAACCTGGTGCATTACCTCACCACCGTGGAGCGCATGGAGA
hrLysAspThrLysTyrAlaArgIleLeuAlaPheLeuGlnSerLysAlaArgLeuGlyAla
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
hrLysAspThrLysTyrAlaArgIleLeuAlaPheLeuGlnSerLysAlaArgLeuGlyAla
CCAAGGACACCAAGTACGCGCGCATCCTCGCCTTCTTGCAGTCCAAGGCCCGCCTGGGCGCT
GluProAlaPheProProLeuGlySerLeuProGluProAspPheSerTyrGlnLeuHisPr
|||||| |||||| ||||||||||||||||||||||||||||||||||||||||||||
GluProThrPheProSerLeuGlySerLeuProGluProAspPheSerTyrGlnLeuHisPr
GAGCCCACCTTCCCGTCGCTGGGTTCGCTCCCGGAGCCGGATTTCTCCTATCAGCTGCACCC
oAlaGlyProGluPheAlaGlyHisSerProGlyGluAlaAlaValPheProGlnGlySerG
|||||||||| ||| |||||| ||||||||||||||||||||||||
oAlaGlyProAspPheThrGlyHisGlyThrSerGluAlaAlaValPheProGlnGlyAlaA
GGCGGGGCCGGACTTCACCGGCCACGGCACCAGCGAGGCCGCTGTGTTCCCGCAGGGCGCTG
lyAlaGlyProPheProTrpProProGlyAlaAlaArgSerProAlaLeuProTyrLeuPro
|||||||||||||||||| ||||||||||||||||||||||||||||||||||||
laProGlyProPheProTrpProHisGlyAlaAlaArgSerProAlaLeuProTyrLeuPro
CCCCGGGACCTTTCCCCTGGCCCCACGGCGCAGCCCGCAGCCCGGCACTGCCCTACCTGCCC
SerAlaProValProLeuAlaSerProAlaGlnGlnHisSerProPheLeuThrProValGl
|||||| |||||||||||||||||||||||||||||||||||||||||| ||||||||
SerAlaLeuValProLeuAlaSerProAlaGlnGlnHisSerProPheLeuAlaProValGl
AGCGCTCTGGTACCTCTGGCGAGCCCGGCGCAGCAGCACAGCCCCTTCCTGGCCCCGGTGCA
nGlyLeuAspArgHisTyrLeuAsnLeuIleGlyHisAlaHisProAsnAlaLeuAsnLeuH
||||||||||||||||||||||||||||||| ||||||||||||||||||||||||||||
nGlyLeuAspArgHisTyrLeuAsnLeuIleSerHisAlaHisProAsnAlaLeuAsnLeuH
GGGCCTGGACCGGCATTATCTCAACCTGATCAGCCACGCCCACCCCAACGCCCTCAACCTGC
isThrProGlnHisProProValLeu
||||||||||||||||||||||||||
isThrProGlnHisProProValLeu
ACACGCCCCAGCACCCGCCGGTGCTC
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