| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000399668(MANE Select) | KNL1 | Benign | 35|165 | without_ | Yes | Single base exchange | N/A |
| |||||
| KNL1 | Benign | 35|165 | without_ | Yes | Single base exchange | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr15:40605155A>G (GRCh38) | |||||||||||||
| Gene symbol | KNL1 | |||||||||||||
| Gene constraints | LOEUF: 0.37, LOF (oe): 0.27, misssense (oe): 1.03, synonymous (oe): 0.95 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000399668.7 | |||||||||||||
| Genbank transcript ID | NM_144508 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | KNL1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.75+6A>G g.11136A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | MaxEntScan:
| |||||||||||||
| Distance from splice site | 6 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 15 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGACGGCATTCTTCAGTAAGAAAGACTTTCTTGAATTAATA | |||||||||||||
| Altered gDNA sequence snippet | AGACGGCATTCTTCAGTAAGGAAGACTTTCTTGAATTAATA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| 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 | ||||||||||||||
| 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 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 162 / 162 | |||||||||||||
| Last intron/exon boundary | 6997 | |||||||||||||
| Theoretical NMD boundary in CDS | 6785 | |||||||||||||
| Length of CDS | 6951 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 11136 | |||||||||||||
| Chromosomal position | 40605155 | |||||||||||||
| Speed | 0.03 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr15:40605155A>G (GRCh38) | |||||||||||||
| Gene symbol | KNL1 | |||||||||||||
| Gene constraints | LOEUF: 0.37, LOF (oe): 0.27, misssense (oe): 1.03, synonymous (oe): 0.95 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000346991.9 | |||||||||||||
| Genbank transcript ID | NM_170589 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | KNL1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.75+6A>G g.11136A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | MaxEntScan:
| |||||||||||||
| Distance from splice site | 6 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 15 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGACGGCATTCTTCAGTAAGAAAGACTTTCTTGAATTAATA | |||||||||||||
| Altered gDNA sequence snippet | AGACGGCATTCTTCAGTAAGGAAGACTTTCTTGAATTAATA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| 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 | ||||||||||||||
| 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 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 391 / 391 | |||||||||||||
| Last intron/exon boundary | 7304 | |||||||||||||
| Theoretical NMD boundary in CDS | 6863 | |||||||||||||
| Length of CDS | 7029 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 11136 | |||||||||||||
| Chromosomal position | 40605155 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project