Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000346991
Querying Taster for transcript #2: ENST00000527044
Querying Taster for transcript #3: ENST00000399668
MT speed 0 s - this script 4.177202 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KNL1polymorphism_automatic3.69504427055745e-12simple_aaeaffectedR936Gsingle base exchangers8040502show file
KNL1polymorphism_automatic3.69504427055745e-12simple_aaeaffectedR910Gsingle base exchangers8040502show file
KNL1polymorphism_automatic2.40361806014278e-07without_aaeaffectedsingle base exchangers8040502show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996305 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:40915190A>GN/A show variant in all transcripts   IGV
HGNC symbol KNL1
Ensembl transcript ID ENST00000346991
Genbank transcript ID NM_170589
UniProt peptide Q8NG31
alteration type single base exchange
alteration region CDS
DNA changes c.2806A>G
cDNA.3196A>G
g.28973A>G
AA changes R936G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 936
frameshift no
known variant Reference ID: rs8040502
databasehomozygous (G/G)heterozygousallele carriers
1000G13707942164
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4990.027
0.4770.026
(flanking)0.3260.027
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased28966wt: 0.7605 / mu: 0.8202 (marginal change - not scored)wt: ACTTCTGAAACTATTTTATATACATGTAGGCAGGATGACAT
mu: ACTTCTGAAACTATTTTATATACATGTGGGCAGGATGACAT		 atat|ACAT
Acc increased28964wt: 0.23 / mu: 0.29wt: GAACTTCTGAAACTATTTTATATACATGTAGGCAGGATGAC
mu: GAACTTCTGAAACTATTTTATATACATGTGGGCAGGATGAC		 ttat|ATAC
Acc marginally increased28974wt: 0.5179 / mu: 0.5297 (marginal change - not scored)wt: AACTATTTTATATACATGTAGGCAGGATGACATGGAGATCA
mu: AACTATTTTATATACATGTGGGCAGGATGACATGGAGATCA		 gtag|GCAG
Acc gained289720.56mu: GAAACTATTTTATATACATGTGGGCAGGATGACATGGAGAT atgt|GGGC
distance from splice site 2353
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      936AGTSETILYTCRQDDMEITRSHTT
mutated  not conserved    936AGTSETILYTCGQDDMEITRSHT
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000027326  838GVLPDRLDFQLSKKES
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000013401  n/a
Drerio  no alignment  ENSDARG00000070239  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
8551201REGION2 X 104 AA approximate repeats.lost
885989REPEAT1.lost
954954MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
956956MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10761076MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10991201REPEAT2.might get lost (downstream of altered splice site)
12321232MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13321332CONFLICTP -> A (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
13571357CONFLICTN -> H (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
17201720MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17561756CONFLICTN -> Y (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
17731773MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17891803MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
18181819SITEBreakpoint for translocation to form MLL- CASC5.might get lost (downstream of altered splice site)
18342316REGIONNecessary for kinetochore localization and for interaction with NSL1 and DSN1.might get lost (downstream of altered splice site)
18451845MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18691869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18791879MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
19422133COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7029 / 7029
position (AA) of stopcodon in wt / mu AA sequence 2343 / 2343
position of stopcodon in wt / mu cDNA 7419 / 7419
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 391 / 391
chromosome 15
strand 1
last intron/exon boundary 7305
theoretical NMD boundary in CDS 6864
length of CDS 7029
coding sequence (CDS) position 2806
cDNA position
(for ins/del: last normal base / first normal base)		 3196
gDNA position
(for ins/del: last normal base / first normal base)		 28973
chromosomal position
(for ins/del: last normal base / first normal base)		 40915190
original gDNA sequence snippet AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC
altered gDNA sequence snippet AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC
original cDNA sequence snippet AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC
altered cDNA sequence snippet AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC
wildtype AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF KRFSCLSLPE TETGENLLLI
QNKKLEDNYC EITGMNTLLS APIHTQMQQK EFSIIEHTRE RKHANDQTVI FSDENQMDLT
SSHTVMITKG LLDNPISEKS TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID
FNDFIKRLKT GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN HTLQILPATG
NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD LSINSADKIH ITRSHIMGAE
THIVSQTCNQ DARILAMTPE SIYSNPSIQG CKTVFYSSCN DAMEMTKCLS NMREEKNLLK
HDSNYAKMYC NPDAMSSLTE KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP
EKEMMLQNLM TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ RSDIIAKNSL
TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY CGGVLDKQIT NRNTVSWEQS
LFSTTKPLFS SGQFSMKNHD TAISSHTVKS VLGQNSKLAE PLRKSLSNPT PDYCHDKMII
CSEEEQNMDL TKSHTVVIGF GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE
KSGVLKSNCI MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL ECKTVSPDEI
TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN FELSQRKSLG TPTVICTPTE
ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN RGPVEVADNM ELSKSATCKN IKDVQSPGFL
NEPLSSKSQR RKSLKLKNDK TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS
KTILYSCGQD DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV LHTEQKQQLF
AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES CQLNNRDRRN VDFTSSHATA
VCGSSDNYSC LPNVISCTDN LEGSAMLLCD KDEEKANYCP VQNDLAYAND FASEYYLESE
GQPLSAPCPL LEKEEVIQTS TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT
KLNSKRVSFK LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS NSDVTKQVIQ
THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF QTVHLPPLPE QLLELGNKAH
NDMHIVQATE IHNINIISSN AKDSRDEENK KSHNGAETTS LPPKTVFKDK VRRCSLGIFL
PRLPNKRNCS VTGIDDLEQI PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE
NLPVYPDEIN SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS LDSIKADGTS
LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF ILLQVHILIQ KPRQSNLPGN
FTVNTPPTPE DLMLSQYVYR PKIQIYREDC EARRQKIEEL KLSASNQDKL LVDINKNLWE
KMRHCSDKEL KAFGIYLNKI KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE
MDKILKKIDN CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV YDTIQLTITF
EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK LIFQYVEEKE SWKKTCTTQH
QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG PNYNLMNIDI NNNELRLLFS SSAAFAKFEI
TLFLSAYYPS VPLPSTIQNH VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF
YH*
mutated AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF KRFSCLSLPE TETGENLLLI
QNKKLEDNYC EITGMNTLLS APIHTQMQQK EFSIIEHTRE RKHANDQTVI FSDENQMDLT
SSHTVMITKG LLDNPISEKS TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID
FNDFIKRLKT GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN HTLQILPATG
NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD LSINSADKIH ITRSHIMGAE
THIVSQTCNQ DARILAMTPE SIYSNPSIQG CKTVFYSSCN DAMEMTKCLS NMREEKNLLK
HDSNYAKMYC NPDAMSSLTE KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP
EKEMMLQNLM TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ RSDIIAKNSL
TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY CGGVLDKQIT NRNTVSWEQS
LFSTTKPLFS SGQFSMKNHD TAISSHTVKS VLGQNSKLAE PLRKSLSNPT PDYCHDKMII
CSEEEQNMDL TKSHTVVIGF GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE
KSGVLKSNCI MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCGQDDM EITRSHTTAL ECKTVSPDEI
TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN FELSQRKSLG TPTVICTPTE
ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN RGPVEVADNM ELSKSATCKN IKDVQSPGFL
NEPLSSKSQR RKSLKLKNDK TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS
KTILYSCGQD DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV LHTEQKQQLF
AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES CQLNNRDRRN VDFTSSHATA
VCGSSDNYSC LPNVISCTDN LEGSAMLLCD KDEEKANYCP VQNDLAYAND FASEYYLESE
GQPLSAPCPL LEKEEVIQTS TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT
KLNSKRVSFK LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS NSDVTKQVIQ
THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF QTVHLPPLPE QLLELGNKAH
NDMHIVQATE IHNINIISSN AKDSRDEENK KSHNGAETTS LPPKTVFKDK VRRCSLGIFL
PRLPNKRNCS VTGIDDLEQI PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE
NLPVYPDEIN SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS LDSIKADGTS
LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF ILLQVHILIQ KPRQSNLPGN
FTVNTPPTPE DLMLSQYVYR PKIQIYREDC EARRQKIEEL KLSASNQDKL LVDINKNLWE
KMRHCSDKEL KAFGIYLNKI KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE
MDKILKKIDN CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV YDTIQLTITF
EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK LIFQYVEEKE SWKKTCTTQH
QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG PNYNLMNIDI NNNELRLLFS SSAAFAKFEI
TLFLSAYYPS VPLPSTIQNH VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF
YH*
speed 1.02 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996305 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:40915190A>GN/A show variant in all transcripts   IGV
HGNC symbol KNL1
Ensembl transcript ID ENST00000399668
Genbank transcript ID NM_144508
UniProt peptide Q8NG31
alteration type single base exchange
alteration region CDS
DNA changes c.2728A>G
cDNA.2889A>G
g.28973A>G
AA changes R910G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 910
frameshift no
known variant Reference ID: rs8040502
databasehomozygous (G/G)heterozygousallele carriers
1000G13707942164
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4990.027
0.4770.026
(flanking)0.3260.027
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased28966wt: 0.7605 / mu: 0.8202 (marginal change - not scored)wt: ACTTCTGAAACTATTTTATATACATGTAGGCAGGATGACAT
mu: ACTTCTGAAACTATTTTATATACATGTGGGCAGGATGACAT		 atat|ACAT
Acc increased28964wt: 0.23 / mu: 0.29wt: GAACTTCTGAAACTATTTTATATACATGTAGGCAGGATGAC
mu: GAACTTCTGAAACTATTTTATATACATGTGGGCAGGATGAC		 ttat|ATAC
Acc marginally increased28974wt: 0.5179 / mu: 0.5297 (marginal change - not scored)wt: AACTATTTTATATACATGTAGGCAGGATGACATGGAGATCA
mu: AACTATTTTATATACATGTGGGCAGGATGACATGGAGATCA		 gtag|GCAG
Acc gained289720.56mu: GAAACTATTTTATATACATGTGGGCAGGATGACATGGAGAT atgt|GGGC
distance from splice site 2353
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      910AGTSETILYTCRQDDMEITRSHTT
mutated  not conserved    910TSETILYTCGQDDMEITRSHT
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000027326  854---AEAKGVLPDRLDFQLSKKES
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000013401  n/a
Drerio  no alignment  ENSDARG00000070239  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
8551201REGION2 X 104 AA approximate repeats.lost
885989REPEAT1.lost
954954MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
956956MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10761076MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10991201REPEAT2.might get lost (downstream of altered splice site)
12321232MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13321332CONFLICTP -> A (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
13571357CONFLICTN -> H (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
17201720MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17561756CONFLICTN -> Y (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
17731773MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17891803MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
18181819SITEBreakpoint for translocation to form MLL- CASC5.might get lost (downstream of altered splice site)
18342316REGIONNecessary for kinetochore localization and for interaction with NSL1 and DSN1.might get lost (downstream of altered splice site)
18451845MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18691869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18791879MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
19422133COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6951 / 6951
position (AA) of stopcodon in wt / mu AA sequence 2317 / 2317
position of stopcodon in wt / mu cDNA 7112 / 7112
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 162 / 162
chromosome 15
strand 1
last intron/exon boundary 6998
theoretical NMD boundary in CDS 6786
length of CDS 6951
coding sequence (CDS) position 2728
cDNA position
(for ins/del: last normal base / first normal base)		 2889
gDNA position
(for ins/del: last normal base / first normal base)		 28973
chromosomal position
(for ins/del: last normal base / first normal base)		 40915190
original gDNA sequence snippet AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC
altered gDNA sequence snippet AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC
original cDNA sequence snippet AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC
altered cDNA sequence snippet AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC
wildtype AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEETETGEN LLLIQNKKLE DNYCEITGMN TLLSAPIHTQ
MQQKEFSIIE HTRERKHAND QTVIFSDENQ MDLTSSHTVM ITKGLLDNPI SEKSTKIDTT
SFLANLKLHT EDSRMKKEVN FSVDQNTSSE NKIDFNDFIK RLKTGKCSAF PDVPDKENFE
IPIYSKEPNS ASSTHQMHVS LKEDENNSNI TRLFREKDDG MNFTQCHTAN IQTLIPTSSE
TNSRESKGND ITIYGNDFMD LTFNHTLQIL PATGNFSEIE NQTQNAMDVT TGYGTKASGN
KTVFKSKQNT AFQDLSINSA DKIHITRSHI MGAETHIVSQ TCNQDARILA MTPESIYSNP
SIQGCKTVFY SSCNDAMEMT KCLSNMREEK NLLKHDSNYA KMYCNPDAMS SLTEKTIYSG
EENMDITKSH TVAIDNQIFK QDQSNVQIAA APTPEKEMML QNLMTTSEDG KMNVNCNSVP
HVSKERIQQS LSNPLSISLT DRKTELLSGE NMDLTESHTS NLGSQVPLAA YNLAPESTSE
SHSQSKSSSD ECEEITKSRN EPFQRSDIIA KNSLTDTWNK DKDWVLKILP YLDKDSPQSA
DCNQEIATSH NIVYCGGVLD KQITNRNTVS WEQSLFSTTK PLFSSGQFSM KNHDTAISSH
TVKSVLGQNS KLAEPLRKSL SNPTPDYCHD KMIICSEEEQ NMDLTKSHTV VIGFGPSELQ
ELGKTNLEHT TGQLTTMNRQ IAVKVEKCGK SPIEKSGVLK SNCIMDVLED ESVQKPKFPK
EKQNVKIWGR KSVGGPKIDK TIVFSEDDKN DMDITKSYTI EINHRPLLEK RDCHLVPLAG
TSETILYTCR QDDMEITRSH TTALECKTVS PDEITTRPMD KTVVFVDNHV ELEMTESHTV
FIDYQEKERT DRPNFELSQR KSLGTPTVIC TPTEESVFFP GNGESDRLVA NDSQLTPLEE
WSNNRGPVEV ADNMELSKSA TCKNIKDVQS PGFLNEPLSS KSQRRKSLKL KNDKTIVFSE
NHKNDMDITQ SCMVEIDNES ALEDKEDFHL AGASKTILYS CGQDDMEITR SHTTALECKT
LLPNEIAIRP MDKTVLFTDN YSDLEVTDSH TVFIDCQATE KILEENPKFG IGKGKNLGVS
FPKDNSCVQE IAEKQALAVG NKIVLHTEQK QQLFAATNRT TNEIIKFHSA AMDEKVIGKV
VDQACTLEKA QVESCQLNNR DRRNVDFTSS HATAVCGSSD NYSCLPNVIS CTDNLEGSAM
LLCDKDEEKA NYCPVQNDLA YANDFASEYY LESEGQPLSA PCPLLEKEEV IQTSTKGQLD
CVITLHKDQD LIKDPRNLLA NQTLVYSQDL GEMTKLNSKR VSFKLPKDQM KVYVDDIYVI
PQPHFSTDQP PLPKKGQSSI NKEEVILSKA GNKSLNIIEN SSAPICENKP KILNSEEWFA
AACKKELKEN IQTTNYNTAL DFHSNSDVTK QVIQTHVNAG EAPDPVITSN VPCFHSIKPN
LNNLNGKTGE FLAFQTVHLP PLPEQLLELG NKAHNDMHIV QATEIHNINI ISSNAKDSRD
EENKKSHNGA ETTSLPPKTV FKDKVRRCSL GIFLPRLPNK RNCSVTGIDD LEQIPADTTD
INHLETQPVS SKDSGIGSVA GKLNLSPSQY INEENLPVYP DEINSSDSIN IETEEKALIE
TYQKEISPYE NKMGKTCNSQ KRTWVQEEED IHKEKKIRKN EIKFSDTTQD REIFDHHTEE
DIDKSANSVL IKNLSRTPSS CSSSLDSIKA DGTSLDFSTY RSSQMESQFL RDTICEESLR
EKLQDGRITI REFFILLQVH ILIQKPRQSN LPGNFTVNTP PTPEDLMLSQ YVYRPKIQIY
REDCEARRQK IEELKLSASN QDKLLVDINK NLWEKMRHCS DKELKAFGIY LNKIKSCFTK
MTKVFTHQGK VALYGKLVQS AQNEREKLQI KIDEMDKILK KIDNCLTEME TETKNLEDEE
KNNPVEEWDS EMRAAEKELE QLKTEEEELQ RNLLELEVQK EQTLAQIDFM QKQRNRTEEL
LDQLSLSEWD VVEWSDDQAV FTFVYDTIQL TITFEESVVG FPFLDKRYRK IVDVNFQSLL
DEDQAPPSSL LVHKLIFQYV EEKESWKKTC TTQHQLPKML EEFSLVVHHC RLLGEEIEYL
KRWGPNYNLM NIDINNNELR LLFSSSAAFA KFEITLFLSA YYPSVPLPST IQNHVGNTSQ
DDIATILSKV PLENNYLKNV VKQIYQDLFQ DCHFYH*
mutated AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEETETGEN LLLIQNKKLE DNYCEITGMN TLLSAPIHTQ
MQQKEFSIIE HTRERKHAND QTVIFSDENQ MDLTSSHTVM ITKGLLDNPI SEKSTKIDTT
SFLANLKLHT EDSRMKKEVN FSVDQNTSSE NKIDFNDFIK RLKTGKCSAF PDVPDKENFE
IPIYSKEPNS ASSTHQMHVS LKEDENNSNI TRLFREKDDG MNFTQCHTAN IQTLIPTSSE
TNSRESKGND ITIYGNDFMD LTFNHTLQIL PATGNFSEIE NQTQNAMDVT TGYGTKASGN
KTVFKSKQNT AFQDLSINSA DKIHITRSHI MGAETHIVSQ TCNQDARILA MTPESIYSNP
SIQGCKTVFY SSCNDAMEMT KCLSNMREEK NLLKHDSNYA KMYCNPDAMS SLTEKTIYSG
EENMDITKSH TVAIDNQIFK QDQSNVQIAA APTPEKEMML QNLMTTSEDG KMNVNCNSVP
HVSKERIQQS LSNPLSISLT DRKTELLSGE NMDLTESHTS NLGSQVPLAA YNLAPESTSE
SHSQSKSSSD ECEEITKSRN EPFQRSDIIA KNSLTDTWNK DKDWVLKILP YLDKDSPQSA
DCNQEIATSH NIVYCGGVLD KQITNRNTVS WEQSLFSTTK PLFSSGQFSM KNHDTAISSH
TVKSVLGQNS KLAEPLRKSL SNPTPDYCHD KMIICSEEEQ NMDLTKSHTV VIGFGPSELQ
ELGKTNLEHT TGQLTTMNRQ IAVKVEKCGK SPIEKSGVLK SNCIMDVLED ESVQKPKFPK
EKQNVKIWGR KSVGGPKIDK TIVFSEDDKN DMDITKSYTI EINHRPLLEK RDCHLVPLAG
TSETILYTCG QDDMEITRSH TTALECKTVS PDEITTRPMD KTVVFVDNHV ELEMTESHTV
FIDYQEKERT DRPNFELSQR KSLGTPTVIC TPTEESVFFP GNGESDRLVA NDSQLTPLEE
WSNNRGPVEV ADNMELSKSA TCKNIKDVQS PGFLNEPLSS KSQRRKSLKL KNDKTIVFSE
NHKNDMDITQ SCMVEIDNES ALEDKEDFHL AGASKTILYS CGQDDMEITR SHTTALECKT
LLPNEIAIRP MDKTVLFTDN YSDLEVTDSH TVFIDCQATE KILEENPKFG IGKGKNLGVS
FPKDNSCVQE IAEKQALAVG NKIVLHTEQK QQLFAATNRT TNEIIKFHSA AMDEKVIGKV
VDQACTLEKA QVESCQLNNR DRRNVDFTSS HATAVCGSSD NYSCLPNVIS CTDNLEGSAM
LLCDKDEEKA NYCPVQNDLA YANDFASEYY LESEGQPLSA PCPLLEKEEV IQTSTKGQLD
CVITLHKDQD LIKDPRNLLA NQTLVYSQDL GEMTKLNSKR VSFKLPKDQM KVYVDDIYVI
PQPHFSTDQP PLPKKGQSSI NKEEVILSKA GNKSLNIIEN SSAPICENKP KILNSEEWFA
AACKKELKEN IQTTNYNTAL DFHSNSDVTK QVIQTHVNAG EAPDPVITSN VPCFHSIKPN
LNNLNGKTGE FLAFQTVHLP PLPEQLLELG NKAHNDMHIV QATEIHNINI ISSNAKDSRD
EENKKSHNGA ETTSLPPKTV FKDKVRRCSL GIFLPRLPNK RNCSVTGIDD LEQIPADTTD
INHLETQPVS SKDSGIGSVA GKLNLSPSQY INEENLPVYP DEINSSDSIN IETEEKALIE
TYQKEISPYE NKMGKTCNSQ KRTWVQEEED IHKEKKIRKN EIKFSDTTQD REIFDHHTEE
DIDKSANSVL IKNLSRTPSS CSSSLDSIKA DGTSLDFSTY RSSQMESQFL RDTICEESLR
EKLQDGRITI REFFILLQVH ILIQKPRQSN LPGNFTVNTP PTPEDLMLSQ YVYRPKIQIY
REDCEARRQK IEELKLSASN QDKLLVDINK NLWEKMRHCS DKELKAFGIY LNKIKSCFTK
MTKVFTHQGK VALYGKLVQS AQNEREKLQI KIDEMDKILK KIDNCLTEME TETKNLEDEE
KNNPVEEWDS EMRAAEKELE QLKTEEEELQ RNLLELEVQK EQTLAQIDFM QKQRNRTEEL
LDQLSLSEWD VVEWSDDQAV FTFVYDTIQL TITFEESVVG FPFLDKRYRK IVDVNFQSLL
DEDQAPPSSL LVHKLIFQYV EEKESWKKTC TTQHQLPKML EEFSLVVHHC RLLGEEIEYL
KRWGPNYNLM NIDINNNELR LLFSSSAAFA KFEITLFLSA YYPSVPLPST IQNHVGNTSQ
DDIATILSKV PLENNYLKNV VKQIYQDLFQ DCHFYH*
speed 1.04 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999759638194 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • poly(A) signal changed
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:40915190A>GN/A show variant in all transcripts   IGV
HGNC symbol KNL1
Ensembl transcript ID ENST00000527044
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.3044A>G
g.28973A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8040502
databasehomozygous (G/G)heterozygousallele carriers
1000G13707942164
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4990.027
0.4770.026
(flanking)0.3260.027
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 886) splice site change occurs after stopcodon (at aa 889)
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased28966wt: 0.7605 / mu: 0.8202 (marginal change - not scored)wt: ACTTCTGAAACTATTTTATATACATGTAGGCAGGATGACAT
mu: ACTTCTGAAACTATTTTATATACATGTGGGCAGGATGACAT		 atat|ACAT
Acc increased28964wt: 0.23 / mu: 0.29wt: GAACTTCTGAAACTATTTTATATACATGTAGGCAGGATGAC
mu: GAACTTCTGAAACTATTTTATATACATGTGGGCAGGATGAC		 ttat|ATAC
Acc marginally increased28974wt: 0.5179 / mu: 0.5297 (marginal change - not scored)wt: AACTATTTTATATACATGTAGGCAGGATGACATGGAGATCA
mu: AACTATTTTATATACATGTGGGCAGGATGACATGGAGATCA		 gtag|GCAG
Acc gained289720.56mu: GAAACTATTTTATATACATGTGGGCAGGATGACATGGAGAT atgt|GGGC
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal unique in [sequence type]: position, polyA signal, score
unique in >mutated: 30888, AATAAA, 0.203387
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 376 / 376
chromosome 15
strand 1
last intron/exon boundary 692
theoretical NMD boundary in CDS 266
length of CDS 342
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 3044
gDNA position
(for ins/del: last normal base / first normal base)		 28973
chromosomal position
(for ins/del: last normal base / first normal base)		 40915190
original gDNA sequence snippet AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC
altered gDNA sequence snippet AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC
original cDNA sequence snippet AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC
altered cDNA sequence snippet AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC
wildtype AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEETGENLL LIQNKKLEDN YCEITVFNYR TYP*
mutated AA sequence N/A
speed 1.11 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems