| Basic information |
| Official Symbol | HIF1AN |
| Description | hypoxia inducible factor 1, alpha subunit inhibitor |
| Other Aliases | FIH1 |
| Other Description | FIH-1; factor inhibiting HIF-1; factor inhibiting HIF1; hypoxia-inducible factor 1-alpha inhibitor; hypoxia-inducible factor asparagine hydroxylase; peptide-aspartate beta-dioxygenase |
| Mutation type | Insert and frame-shift 27-28:G-P^GG |
| Location | Scaffold000539_1:6033265 6045086 + |
| Wiki | Wikipedia GeneCard |
| Sequence |
| HIF1AN |
GTCCGGAATAGGCGGCGCTTCCGGTTCCGGTGGCCGTCCTTAGCGGCGGA GATGGCGGCGACGGCGGCGACAGGGTCTTCGGGCTCTGGAGAGCCCCGGG AAGAGGCTGAAGCCCCGGGGCCCTCCTGGGATGAATCCCAACTGCGCAGC TATAGCTTCCCAACCCGGCCCATCCCGCGTCTGAGTCAGAGCGACCCCCG TGCGGAGGAGCTTATCGAGAATGAGGAGCCTGTAGTGCTGACCGACACAA ACCTTGTGTATCCTGCCCTGAAGTGGGACCTCGAATACCTGCAAGAGAAT ATCGGCAACGGAGACTTCTCTGTGTACAGCGCCAGCACCCACAAGTTCTT GTACTACGATGAGAAGAAGATGGCTAATTTCCAGAACTTTAAGCCAAGGT CCAACAGGGAGGAAATGAAATTTCACGAGTTTGTGGAGAAGCTGCAGGAT ATACAGCAGCGAGGAGGGGAAGAGAGGTTGTATCTGCAGCAGACGCTCAA TGACACCGTGGGCAGGAAGATTGTCATGGACTTCTTGGGTTTTAACTGGA ACTGGATTAATAAGCAACAGGGAAAGCGCGGCTGGGGGCAGCTGACCTCC AACCTGCTGCTCATTGGCATGCAAGGAAATGTGACTCCTGCTCACTATGA TGAGCAGCAGAACTTCTTTGCTCAGATAAAAGGCTACAAGCGATGCATCT TATTCCCTCCGGATCAGTTTGAGTGCCTCTACCCATACCCAGTCCATCAC CCATGTGACAGACAGAGCCAGGTGGACTTTGACAATCCTGACTATGAGAG GTTCCCCAATTTCCGAAATGTGGTCGGTTATGAAACAGTGGTTGGCCCTG GCGATGTTCTTTATATCCCAATGTACTGGTGGCATCACATAGAGTCATTA CTCGATGGGGGGATTACCATCACTGTGAACTTCTGGTATAAGGGGGCTCC CACCCCTAAGAGAATTGAATATCCTCTCAAAGCTCATCAGAAAGTGGCCA TAATGAGAAACATTGAGAAGATGCTTGGAGAGGCCTTGGGAAACCCACAA GAGGTCGGGCCCTTGTTGAACACAATGATCAAGGGCCGATACAAC |
| Alignment |
| Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
| Human | 382 | 16 | 382 | Insert and frame-shift 27-28:G-P^GG |
Instructions:
*** -> premature termination codon; # -> frame shift
Alignment:
Human pep sequence --->
||||||||||||||||||||||
Treeshrew pep sequence --->
Treeshrew cds sequence --->
ValArgAsnArgArgSerPheArgPheArgTrpGly--ProSerLeuAlaAlaGluMetA
||||||||||||||| ||||||||||||||| ##||||||||||||||||||||||
ValArgAsnArgArgArgPheArgPheArgTrp---##ProSerLeuAlaAlaGluMetA
GTCCGGAATAGGCGGCGCTTCCGGTTCCGGTGG---GGCCGTCCTTAGCGGCGGAGATGG
laAlaThrAlaAlaGluAlaValAlaSerGlySerGlyGluProArgGluGluAlaGlyA
|||||||||||||| |||||||||||||||||||||||||||||| |
laAlaThrAlaAlaThrGly---SerSerGlySerGlyGluProArgGluGluAlaGluA
CGGCGACGGCGGCGACAGGG---TCTTCGGGCTCTGGAGAGCCCCGGGAAGAGGCTGAAG
laLeuGlyProAlaTrpAspGluSerGlnLeuArgSerTyrSerPheProThrArgProI
|| |||||| ||||||||||||||||||||||||||||||||||||||||||||||
laProGlyProSerTrpAspGluSerGlnLeuArgSerTyrSerPheProThrArgProI
CCCCGGGGCCCTCCTGGGATGAATCCCAACTGCGCAGCTATAGCTTCCCAACCCGGCCCA
leProArgLeuSerGlnSerAspProArgAlaGluGluLeuIleGluAsnGlu >>>>
|||||||||||||||||||||||||||||||||||||||||||||||||||||
leProArgLeuSerGlnSerAspProArgAlaGluGluLeuIleGluAsnGlu++
TCCCGCGTCTGAGTCAGAGCGACCCCCGTGCGGAGGAGCTTATCGAGAATGAGgt
Target Intron 1 >>>> GluProValValLeuThrAspThrAsnLeuValTyrPr
242 bp ||||||||||||||||||||||||||||||||||||||
++GluProValValLeuThrAspThrAsnLeuValTyrPr
agGAGCCTGTAGTGCTGACCGACACAAACCTTGTGTATCC
oAlaLeuLysTrpAspLeuGluTyrLeuGlnGluAsnIleGlyAsnGlyAspPheSerVa
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
oAlaLeuLysTrpAspLeuGluTyrLeuGlnGluAsnIleGlyAsnGlyAspPheSerVa
TGCCCTGAAGTGGGACCTCGAATACCTGCAAGAGAATATCGGCAACGGAGACTTCTCTGT
lTyrSerAlaSerThrHisLysPheLeuTyrTyrAspGluLysLysMetAlaAsnPheGl
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
lTyrSerAlaSerThrHisLysPheLeuTyrTyrAspGluLysLysMetAlaAsnPheGl
GTACAGCGCCAGCACCCACAAGTTCTTGTACTACGATGAGAAGAAGATGGCTAATTTCCA
nAsnPheLysProArgSerAsnArgGluGluMetLysPheHisGluPheValGluLysLe
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
nAsnPheLysProArgSerAsnArgGluGluMetLysPheHisGluPheValGluLysLe
GAACTTTAAGCCAAGGTCCAACAGGGAGGAAATGAAATTTCACGAGTTTGTGGAGAAGCT
uGlnAspIleGlnGlnArgGlyGlyGluGlu{Ar} >>>> Target Intron 2 >>
|||||||||||||||||||||||||||||||{||} 4477 bp
uGlnAspIleGlnGlnArgGlyGlyGluGlu{Ar}++
GCAGGATATACAGCAGCGAGGAGGGGAAGAG{AG}gt
>> {g}LeuTyrLeuGlnGlnThrLeuAsnAspThrValGlyArgLysIleValMetAs
{|}|||||||||||||||||||||||||||||||||||||||||||||||||||||
++{g}LeuTyrLeuGlnGlnThrLeuAsnAspThrValGlyArgLysIleValMetAs
ag{G}TTGTATCTGCAGCAGACGCTCAATGACACCGTGGGCAGGAAGATTGTCATGGA
pPheLeuGlyPheAsnTrpAsnTrpIleAsnLysGlnGlnGlyLysArgGlyTrpGlyGl
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
pPheLeuGlyPheAsnTrpAsnTrpIleAsnLysGlnGlnGlyLysArgGlyTrpGlyGl
CTTCTTGGGTTTTAACTGGAACTGGATTAATAAGCAACAGGGAAAGCGCGGCTGGGGGCA
nLeuThrSerAsnLeuLeuLeuIleGlyMetGlu{G} >>>> Target Intron 3
||||||||||||||||||||||||||||||| {|} 2242 bp
nLeuThrSerAsnLeuLeuLeuIleGlyMetGln{G}++
GCTGACCTCCAACCTGCTGCTCATTGGCATGCAA{G}gt
>>>> {ly}AsnValThrProAlaHisTyrAspGluGlnGlnAsnPhePheAlaGlnIl
{||}||||||||||||||||||||||||||||||||||||||||||||||||||
++{ly}AsnValThrProAlaHisTyrAspGluGlnGlnAsnPhePheAlaGlnIl
ag{GA}AATGTGACTCCTGCTCACTATGATGAGCAGCAGAACTTCTTTGCTCAGAT
eLysGlyTyrLysArgCysIleLeuPheProProAspGlnPheGluCysLeuTyrProTy
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
eLysGlyTyrLysArgCysIleLeuPheProProAspGlnPheGluCysLeuTyrProTy
AAAAGGCTACAAGCGATGCATCTTATTCCCTCCGGATCAGTTTGAGTGCCTCTACCCATA
rProValHisHisProCysAspArgGlnSerGln >>>> Target Intron 4 >>>
|||||||||||||||||||||||||||||||||| 1841 bp
rProValHisHisProCysAspArgGlnSerGln++
CCCAGTCCATCACCCATGTGACAGACAGAGCCAGgt
> ValAspPheAspAsnProAspTyrGluArgPheProAsnPheGlnAsnValValGly
|||||||||||||||||||||||||||||||||||||||||| ||||||||||||
++ValAspPheAspAsnProAspTyrGluArgPheProAsnPheArgAsnValValGly
agGTGGACTTTGACAATCCTGACTATGAGAGGTTCCCCAATTTCCGAAATGTGGTCGGT
TyrGluThrValValGlyProGlyAspValLeuTyrIleProMetTyr{Tr} >>>> T
||||||||||||||||||||||||||||||||||||||||||||||||{||}
TyrGluThrValValGlyProGlyAspValLeuTyrIleProMetTyr{Tr}++
TATGAAACAGTGGTTGGCCCTGGCGATGTTCTTTATATCCCAATGTAC{TG}gt
arget Intron 5 >>>> {p}TrpHisHisIleGluSerLeuLeuAsnGlyGlyIle
399 bp {|}|||||||||||||||||||||||| |||||||||
++{p}TrpHisHisIleGluSerLeuLeuAspGlyGlyIle
ag{G}TGGCATCACATAGAGTCATTACTCGATGGGGGGATT
ThrIleThrValAsnPheTrpTyrLys >>>> Target Intron 6 >>>> GlyA
||||||||||||||||||||||||||| 223 bp ||||
ThrIleThrValAsnPheTrpTyrLys++ ++GlyA
ACCATCACTGTGAACTTCTGGTATAAGgt agGGGG
laProThrProLysArgIleGluTyrProLeuLysAlaHisGlnLysValAlaIleMetA
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
laProThrProLysArgIleGluTyrProLeuLysAlaHisGlnLysValAlaIleMetA
CTCCCACCCCTAAGAGAATTGAATATCCTCTCAAAGCTCATCAGAAAGTGGCCATAATGA
rgAsnIleGluLysMetLeuGlyGluAlaLeuGlyAsnProGlnGlu >>>> Target
||||||||||||||||||||||||||||||||||||||||||||||| 13
rgAsnIleGluLysMetLeuGlyGluAlaLeuGlyAsnProGlnGlu++
GAAACATTGAGAAGATGCTTGGAGAGGCCTTGGGAAACCCACAAGAGgt
Intron 7 >>>> ValGlyProLeuLeuAsnThrMetIleLysGlyArgTyrAsn
01 bp ||||||||||||||||||||||||||||||||||||||||||
++ValGlyProLeuLeuAsnThrMetIleLysGlyArgTyrAsn
agGTCGGGCCCTTGTTGAACACAATGATCAAGGGCCGATACAAC
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