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 increased28974wt: 0.5179 / mu: 0.5297 (marginal change - not scored)wt: AACTATTTTATATACATGTAGGCAGGATGACATGGAGATCA
mu: AACTATTTTATATACATGTGGGCAGGATGACATGGAGATCA		 gtag|GCAG
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 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 1.09 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