| Basic information |
| Official Symbol | KLHDC1 |
| Description | kelch domain containing 1 |
| Other Aliases | MSTP025, MST025 |
| Other Description | kelch domain-containing protein 1 |
| Mutation type | Delete and frame-shift 397:E->A |
| Location | Scaffold000688_1:786696 828029 + |
| Wiki | Wikipedia GeneCard |
| Sequence |
| KLHDC1 |
TCTATTGAAGACAATGAGGTGTATTTGCCTAATGATGAAATTTGGACCTATGATATTGAT AGTGGGCTGAGAATGCACCTAATGGAAGGAGAACTCCCTACCTCCATGTCCGGAAGCTGT GGTGCTTGCATTAATGGAAAGCTGTACATTTTTGGAGGATATGATGACAAAGGATACAGC AATCGACTTTATTTTGTTAACTTGCGAACAAGAGATGGAACCTACGTTTGGGAAAAAATC ACCAACTTTAAGGGACAACCGCCCACACCACGTGATAAACTTTCCTGCTGGGTTTATAAA GACTTAATATATTTTGGTGGTTATGGGTGTAGGAGACACAGTGAACTCCAAGACTGTTTT GATGTTCATGATGCGTCTTGGGAAGAGCAGATGTTCTGGGGATGGCATAATGATGTCCAC GTATTTGACACAAAGACACAAACTTGGTTTCAACCAGAAATTAAAGGTGGAGTCCCACCG CAGCCCCGAGCTGCACATACGTGTGCTGTTCTTGGAAATAAGGGCTATGTCTTTGGAGGA CGTGTTTTGCAAACTAGGATGAATGATTTGCACTGTCTAACTTTAGATACCTGGACTTGG TCTGGAATTTCTATTAATGGAGAAAGCCCAAAACATCGATCATGGCATACTTTAACACCA ATAGCTGATGATAAGCTTTTCTTATTTGGTGGACTAAGTACAGATAATGTTCCATTAGAT GGTTGGATTCATAATGTCATAACAAATTGTTGGAAACAACTTACACATTTACCTAAAACC AGACCTTTATGGCACACAGCCTGTTTGGGAAAAGAAAATGAAATAATGGTATTTGGTGGG AGCAAAGATGATTTACTTTCCTTGGACACAGGTCACTGTAATGATTTATTGATCTTTCAA ACACAGCCTTATTCACTACTCTTATGCTTGGACTGCATTGGTAAAAATGCTATGATTTTA AAAAGTCAGATATCTTTATTACCTCCTAAACTTCTACAACAAGTGCTCAAAAAAATAACA TTTTGGACTGCAGCTAATCACCGAGAAGAACAAAGAGTCCAGAAAGAAGAAACAAAATAA CTATCAGTGGATCAATAGC |
| Alignment |
| Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
| Human | 406 | 33 | 405 | Delete and frame-shift 397:E->A |
Instructions:
*** -> premature termination codon; # -> frame shift
Alignment:
Human pep sequence --->
||||||||||||||||||||||
Treeshrew pep sequence --->
Treeshrew cds sequence --->
SerIleGluAspAsnGluValTyrLeuProAsnAspGluIleTrpThrTyrAspIleAsp
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SerIleGluAspAsnGluValTyrLeuProAsnAspGluIleTrpThrTyrAspIleAsp
TCTATTGAAGACAATGAGGTGTATTTGCCTAATGATGAAATTTGGACCTATGATATTGAT
SerGlyLeu{Tr} >>>> Target Intron 1 >>>> {p}ArgMetHisLeuMet
|||||||||{||} 624 bp {|}|||||||||||||||
SerGlyLeu{Tr}++ ++{p}ArgMetHisLeuMet
AGTGGGCTG{TG}gt ag{G}AGAATGCACCTAATG
GluGlyGluLeuProAlaSerMetSerGlySerCysGlyAlaCysIleAsnGlyLysLeu
||||||||||||||| ||||||||||||||||||||||||||||||||||||||||||
GluGlyGluLeuProThrSerMetSerGlySerCysGlyAlaCysIleAsnGlyLysLeu
GAAGGAGAACTCCCTACCTCCATGTCCGGAAGCTGTGGTGCTTGCATTAATGGAAAGCTG
TyrIlePheGlyGlyTyrAspAspLysGlyTyrSerAsnArg >>>> Target Intr
|||||||||||||||||||||||||||||||||||||||||| 444 bp
TyrIlePheGlyGlyTyrAspAspLysGlyTyrSerAsnArg++
TACATTTTTGGAGGATATGATGACAAAGGATACAGCAATCGAgt
on 2 >>>> LeuTyrPheValAsnLeuArgThrArgAspGluThrTyrIleTrpGluL
|||||||||||||||||||||||||||||| |||||| |||||||
++LeuTyrPheValAsnLeuArgThrArgAspGlyThrTyrValTrpGluL
agCTTTATTTTGTTAACTTGCGAACAAGAGATGGAACCTACGTTTGGGAAA
ysIleThrAspPheGluGlyGlnProProThrProArgAspLysLeuSerCysTrpValT
|||||||| ||| |||||||||||||||||||||||||||||||||||||||||||
ysIleThrAsnPheLysGlyGlnProProThrProArgAspLysLeuSerCysTrpValT
AAATCACCAACTTTAAGGGACAACCGCCCACACCACGTGATAAACTTTCCTGCTGGGTTT
yrLysAsp{Ar} >>>> Target Intron 3 >>>> {g}LeuIleTyrPheGlyG
||||||||{||} 4745 bp {|}||||||||||||||||
yrLysAsp{Ar}++ ++{g}LeuIleTyrPheGlyG
ATAAAGAC{AG}gt ag{G}TTAATATATTTTGGTG
lyTyrGlyCysArgArgHisSerGluLeuGlnAspCysPheAspValHisAspAlaSerT
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
lyTyrGlyCysArgArgHisSerGluLeuGlnAspCysPheAspValHisAspAlaSerT
GTTATGGGTGTAGGAGACACAGTGAACTCCAAGACTGTTTTGATGTTCATGATGCGTCTT
rp >>>> Target Intron 4 >>>> GluGluGlnIlePheTrpGlyTrpHisAs
|| 7546 bp ||||||||| |||||||||||||||||
rp++ ++GluGluGlnMetPheTrpGlyTrpHisAs
GGgt agGAAGAGCAGATGTTCTGGGGATGGCATAA
nAspValHisIlePheAspThrLysThrGlnThrTrpPheGlnProGluIleLys >>>
|||||||||| ||||||||||||||||||||||||||||||||||||||||||
nAspValHisValPheAspThrLysThrGlnThrTrpPheGlnProGluIleLys++
TGATGTCCACGTATTTGACACAAAGACACAAACTTGGTTTCAACCAGAAATTAAAgt
> Target Intron 5 >>>> GlyGlyValProProGlnProArgAlaAlaHisThr
4632 bp ||||||||||||||||||||||||||||||||||||
++GlyGlyValProProGlnProArgAlaAlaHisThr
agGGTGGAGTCCCACCGCAGCCCCGAGCTGCACATACG
CysAlaValLeuGlyAsnLysGlyTyrIlePheGlyGlyArgValLeu >>>> Targe
||||||||||||||||||||||||||| ||||||||||||||||||
CysAlaValLeuGlyAsnLysGlyTyrValPheGlyGlyArgValLeu++
TGTGCTGTTCTTGGAAATAAGGGCTATGTCTTTGGAGGACGTGTTTTGgt
t Intron 6 >>>> GlnThrArgMetAsnAspLeuHisTyrLeuAsnLeuAspThrT
463 bp |||||||||||||||||||||||| ||| ||||||||||
++GlnThrArgMetAsnAspLeuHisCysLeuThrLeuAspThrT
agCAAACTAGGATGAATGATTTGCACTGTCTAACTTTAGATACCT
rpThrTrpSerGly{Ar} >>>> Target Intron 7 >>>> {g}IleThrIleA
||||||||||||||{||} 572 bp {|}||| ||||
rpThrTrpSerGly{Ar}++ ++{g}IleSerIleA
GGACTTGGTCTGGA{AG}gt ag{G}ATTTCTATTA
snGlyGluSerProLysHisArgSerTrpHisThrLeuThrProIleAlaAspAspLysL
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
snGlyGluSerProLysHisArgSerTrpHisThrLeuThrProIleAlaAspAspLysL
ATGGAGAAAGCCCAAAACATCGATCATGGCATACTTTAACACCAATAGCTGATGATAAGC
euPheLeuCysGlyGlyLeuSerAlaAspAsnIleProLeu{S} >>>> Target In
|||||||| |||||||||||| |||||| ||||||{|} 2940
euPheLeuPheGlyGlyLeuSerThrAspAsnValProLeu{S}++
TTTTCTTATTTGGTGGACTAAGTACAGATAATGTTCCATTA{A}gt
tron 8 >>>> {er}AspGlyTrpIleHisAsnValThrThrAsnCysTrpLysGlnL
bp {||}||||||||||||||||||||| |||||||||||||||||||
++{er}AspGlyTrpIleHisAsnValIleThrAsnCysTrpLysGlnL
ag{GT}GATGGTTGGATTCATAATGTCATAACAAATTGTTGGAAACAAC
euThrHisLeuProLysThrArgPro{Ar} >>>> Target Intron 9 >>>> {
||||||||||||||||||||||||||{||} 5559 bp {
euThrHisLeuProLysThrArgPro{Ar}++ ++{
TTACACATTTACCTAAAACCAGACCT{CG}gt ag{
g}LeuTrpHisThrAlaCysLeuGlyLysGluAsnGluIleMetValPheGlyGlySerL
|}||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
g}LeuTrpHisThrAlaCysLeuGlyLysGluAsnGluIleMetValPheGlyGlySerL
G}TTATGGCACACAGCCTGTTTGGGAAAAGAAAATGAAATAATGGTATTTGGTGGGAGCA
ysAspAspLeuLeuAlaLeuAspThr >>>> Target Intron 10 >>>> GlyH
|||||||||||||| ||||||||| 3517 bp ||||
ysAspAspLeuLeuSerLeuAspThr++ ++GlyH
AAGATGATTTACTTTCCTTGGACACAgt agGGTC
isCysAsnAspLeuLeuIlePheGlnThrGlnProTyrSerLeuLeu{Ar} >>>> Ta
|||||||||||||||||||||||||||||||||||||||||||||||{||}
isCysAsnAspLeuLeuIlePheGlnThrGlnProTyrSerLeuLeu{Ar}++
ACTGTAATGATTTATTGATCTTTCAAACACAGCCTTATTCACTACTC{AG}gt
rget Intron 11 >>>> {g}SerCysLeuAspCysIleGlyLysAsnSerIleMet
9175 bp {|} ||||||||||||||||||||||||
++{g}LeuCysLeuAspCysIleGlyLysAsnAlaMetIle
ag{G}TTATGCTTGGACTGCATTGGTAAAAATGCTATGATT
LeuGluSerGlnIleSerLeuLeuProProLysLeuLeuGlnGlnValLeuLysLysIle
||| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
LeuLysSerGlnIleSerLeuLeuProProLysLeuLeuGlnGlnValLeuLysLysIle
TTAAAAAGTCAGATATCTTTATTACCTCCTAAACTTCTACAACAAGTGCTCAAAAAAATA
ThrPheTrpAlaAlaAlaAsnHisArgGluGluGlnArgValGlnLysGluGluThrGlu
||||||||| |||||||||||||||||||||||||||||||||||||||||||||
ThrPheTrpThrAlaAlaAsnHisArgGluGluGlnArgValGlnLysGluGluThr---
ACATTTTGGACTGCAGCTAATCACCGAGAAGAACAAAGAGTCCAGAAAGAAGAAACAA##
AsnLysTyrGlnTrpIleSerSer
||| |||||||||||| |||
AsnAsnTyrGlnTrpIleAsnSer
AATAACTATCAGTGGATCAATAGC
//
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