Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999994034 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:88497446A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF469
Ensembl transcript ID ENST00000565624
Genbank transcript ID N/A
UniProt peptide Q96JG9
alteration type single base exchange
alteration region CDS
DNA changes c.3568A>G
cDNA.3568A>G
g.3568A>G
AA changes K1190E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1190
frameshift no
known variant Reference ID: rs7197071
databasehomozygous (G/G)heterozygousallele carriers
1000G17805412321
ExAC643811697607
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Gabp, Transcription Factor, Gabp TF binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3270.075
-0.1320.005
(flanking)-0.3050
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 3568
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1190ETGAAAREGGPKCADRPSVAPKDP
mutated  all conserved    1190ETGAAAREGGPECADRPSVAPK
Ptroglodytes  all identical  ENSPTRG00000041055  1162ETGAAAREGGPKCADRPSVAPK
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000043903  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11862 / 11862
position (AA) of stopcodon in wt / mu AA sequence 3954 / 3954
position of stopcodon in wt / mu cDNA 11862 / 11862
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 1 / 1
chromosome 16
strand 1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 11862
coding sequence (CDS) position 3568
cDNA position
(for ins/del: last normal base / first normal base)
3568
gDNA position
(for ins/del: last normal base / first normal base)
3568
chromosomal position
(for ins/del: last normal base / first normal base)
88497446
original gDNA sequence snippet CCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCA
altered gDNA sequence snippet CCGCCAGGGAGGGAGGCCCCGAGTGTGCTGATCGCCCCTCA
original cDNA sequence snippet CCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCA
altered cDNA sequence snippet CCGCCAGGGAGGGAGGCCCCGAGTGTGCTGATCGCCCCTCA
wildtype AA sequence MPGERPRGAP PPTMTGDLQP RQVASSPGHP SQPPLEDNTP ATRTTKGARE AGGQAQAMEL
PEAQPRQARD GELKPPSLRG QAPSSTPGKR GSPQTPPGRS PLQAPSRLAG RAEGSPPQRY
ILGIASSRTK PTLDETPENP QLEAAQLPEV DTPQGPGTGA PLRPGLPRTE AQPAAEELGF
HRCFQEPPSS FTSTNYTSPS ATPRPPAPGP PQSRGTSPLQ PGSYPEYQAS GADSWPPAAE
NSFPGANFGV PPAEPEPIPK GSRPGGSPRG VSFQFPFPAL HGASTKPFPA DVAGHAFTNG
PLVFAFHQPQ GAWPEEAVGT GPAYPLPTQP APSPLPCYQG QPGGLNRHSD LSGALSSPGA
AHSAPRPFSD SLHKSLTKIL PERPPSAQDG LGSTRGPPSS LPQRHFPGQA YRASGVDTSP
GPPDTELAAP GPPPARLPQL WDPTAAPYPT PPGGPLAATR SMFFNGQPSP GQRLCLPQSA
PLPWPQVLPT ARPSPHGMEM LSRLPFPAGG PEWQGGSQGA LGTAGKTPGP REKLPAVRSS
QGGSPALFTY NGMTDPGAQP LFFGVAQPQV SPHGTPSLPP PRVVGASPSE SPLPSPATNT
AGSTCSSLSP MSSSPANPSS EESQLPGPLG PSAFFHPPTH PQETGSPFPS PEPPHSLPTH
YQPEPAKAFP FPADGLGAEG AFQCLEETPF PHEGPEVGRG GLQGFPRAPP PYPTHHFSLS
SASLDQLDVL LTCRQCDRNY SSLAAFLAHR QFCGLLLARA KDGHQRSPGP PGLPSPPAAP
RVPADAHAGL LSHAKTFLLA GDAQAEGKDD PLRTGFLPSL AATPFPLPAS DLDMEDDAKL
DSLITEALNG MEYQSDNPEI DSSFIDVFAD EEPSGPRGPS SGHPLKSKAG VTPESKAPPP
LPAATPDPQT PRPGDRGCPA RGRPKTRSLG LAPTEADAPS QGRQQRRGKQ LKLFRKDLDS
GGAAEGSGSG GGGRASGLRP RRNDGLGERP PPRPRRPRTQ APGSRADPAP RVPRAAALPE
ETRSSRRRRL PPRKDPRKRK ARGGAWGKEL ILKIVQQKNR RHRRLGRRAG RCGSLAAGRP
RPGAEDRRLR EYDFASESEE DEQPPPRGPG FRGRRGRGEK RKEVELTQGP REDEPQKPRK
AARQEAGGDG APANPEEPGG SRPGPGRSPQ ARGPSRSLET GAAAREGGPK CADRPSVAPK
DPLQVPTNTE TSEETRPSLD FPQEAKEPET AEESAPDSTE FTEALRSPPA ACAGEMGASP
GLLIPEQPPP SRHDTGTPKP SGSLANTAPH GSSPTPGVGS LLGGPGGTQA PVSHNSKDPP
ARQPGEFLAP VANPSSTACP KPSVLSSKIS SFGCDPAGFN RDPLGVPVAK KGPQPYSSPH
SELFLGPKDL AGCFLEELHP KPSARDAPPA SSSCLCQDGE DAGSLEPQLP RSPPGTAETE
PGRAASPPTL ESSSLFPDLP VDRFDPPLYG SLSANRDSGL PFACADPPQK TVPSDPPYPS
FLLLEEVSPM LPSHFPDLSG GKVLSKTCPP ERTVVPGAAP SLPGKGSGCS VALMSHLSED
ELEIQKLVTE LESQLQRSKD TRGAPRELAE AESVGRVELG TGTEPPSQRR TCQATVPHED
TFSAADLTRV GESTAHREGA ESAVATVEAV QGRPGGTWPC PASFHPGHAA LLPCAQEDLV
SGAPFSPRGA NFHFQPVQKA GASKTGLCQA EGDSRPPQDV CLPEPSKQPG PQLDAGSLAK
CSPDQELSFP KNKEAASSQE SEDSLRLLPC EQRGGFLPEP GTADQPHRGA PAPEAFGSPA
VHLAPDLAFQ GDGAPPLDAT WPFGASPSHA AQGHSAGRAG GHLHPTAGRP GFEGNEFAPA
GASSLTAPRG REAWLVPVPS PACVSNTHPS RRSQDPALSP PIRQLQLPGP GVAKSKDGIL
GLQELTPAAQ SPPRVNPSGL EGGTVEGGKV ACGPAQGSPG GVQVTTLPAV AGHQLGLEAD
GHWGLLGQAE KTQGQGTANQ LQPENGVSPG GTDNHASVNA SPKTALTGPT EGAVLLEKCK
GSRAAMSLQE EAEPTPSPPS PNRESLALAL TAAHSRSGSE GRTPERASSP GLNKPLLATG
DSPAPSVGDL AACAPSPTSA AHMPCSLGPL PREDPLTSPS RAQGGLGGQL PASPSCRDPP
GPQQLLACSP AWAPLEEADG VQATTDTGAE DSPVAPPSLT TSPCDPKEAL AGCLLQGEGS
PLEDPSSWPP GSVSAVTCTH SGDTPKDSTL RIPEDSRKEK LWESPGRATS PPLAGAVSPS
VAVRATGLSS TPTGDEAQAG RGLPGPDPQS RGAPPHTNPD RMPRGHSSYS PSNTARLGHR
EGQAVTAVPT EPPTLQGAGP DSPACLEGEM GTSSKEPEDP GTPETGRSGA TKMPRVTCPS
TGLGLGRTTA PSSTASDFQS DSPQSHRNAS HQTPQGDPLG PQDLKQRSRG YKKKPASTEN
GQWKGQAPHG PVTCEVCAAS FRSGPGLSRH KARKHRPHPG APAEPSPAAL PAQQPLEPLA
QKCQPPRKKS HRVSGKERPN HSRGDPSHVT QPPPAQGSKE VLRAPGSPHS QQLHPPSPTE
HEVDVKTPAS KPRPDQARED ELHPKQAEKR EGRRWRREPT VDSPSHSEGK SNKKRGKLRG
RRLREESILP VSADVISDGR GSRPSPAMAS YAASPSHCLS VEGGPEADGE QPPRLATLGP
GVMEGAAETD QEALCAGETG AQKPPGDRML CPGRMDGAAL GEQPTGQKGA SARGFWGPRE
TKALGVCKES GSEPAEDSSR AHSRSEEGVW EENTPPLGPL GFPETSSSPA DSTTSSCLQG
LPDNPDTQGG VQGPEGPTPD ASGSSAKDPP SLFDDEVSFS QLFPPGGRLT RKRNPHVYGK
RCEKPVLPLP TQPSFEEGGD PTLGPARLPT DLSDSSSLCL CHEDPWEDED PAGLPESFLL
DGFLNSRVPG IDPWAPGLSL WALEPSREAG AEKLPSHCPE DDRPEAIPEL HMVPAAWRGL
EMPAPADDSS SSLGDVSPEP PSLERERCDG GLPGNTHLLP LRATDFEVLS TKFEMQDLCF
LGPFEDPVGL PGPSFLDFEG TASSQGPQSR RTEEAAGAGR AQGRGRPAKG RRASYKCKVC
FQRFRSLGEL DLHKLAHTPA PPPTCYMCVE RRFGSRELLR GHLQERHAQS KAGPWACGMC
LKEVADVWMY NEHLREHAVR FARRGQARRS LGDLPGGLEG SSAVAHLLNS ITEPAPKHHR
GKRSAGKAAG SPGDPWGQEG EAKKDSPGER AKPRARSTPS NPDGAATPDS ASATALADAG
SPGPPRTTPS PSPDPWAGGE PLLQATPVHE ACKDPSRDCH HCGKRFPKPF KLQRHLAVHS
PQRVYLCPRC PRVYPEHGEL LAHLGGAHGL LERPELQHTP LYACELCATV MRIIKKSFAC
SSCNYTFAKK EQFDRHMNKH LRGGRQPFAF RGVRRPGAPG QKARALEGTL PSKRRRVAMP
GSAPGPGEDR PPPRGSSPIL SEGSLPALLH LCSEVAPSTT KGWPETLERP VDPVTHPIRG
CELPSNHQEC PPPSLSPFPA ALADGRGDCA LDGALERPEN EASPGSPGPL LQQALPLGAS
LPRPGARGQD AEGKRAPLVF SGKRRAPGAR GRCAPDHFQE DHLLQKEKEV SSSHMVSEGG
PRGTFHKGSA TKPAGCQSSS KDRSAASTPS KALKFPVHPR KAVGSLAPGE LARGTENGMK
PATPKAKPGP SSQGSGSPRP GTKTGGGSQP QPASGQLQSE TATTPAKPSF PSRSPAPERL
PARAQAKSCT KGPREAGEQG PHGSLGPKEK GESSTKRKKG QVPGPARSES VGSFGRAPSA
PDKPPRTPRK QATPSRVLPT KPKPNSQNKP RPPPSEQRKA EPGHTQRKDR LGKAFPQGRP
LLRPPKRGTA VHGAEPAEPH THRTAEAQSD LLSQLFGQRL TGFKIPLKKD ASE*
mutated AA sequence MPGERPRGAP PPTMTGDLQP RQVASSPGHP SQPPLEDNTP ATRTTKGARE AGGQAQAMEL
PEAQPRQARD GELKPPSLRG QAPSSTPGKR GSPQTPPGRS PLQAPSRLAG RAEGSPPQRY
ILGIASSRTK PTLDETPENP QLEAAQLPEV DTPQGPGTGA PLRPGLPRTE AQPAAEELGF
HRCFQEPPSS FTSTNYTSPS ATPRPPAPGP PQSRGTSPLQ PGSYPEYQAS GADSWPPAAE
NSFPGANFGV PPAEPEPIPK GSRPGGSPRG VSFQFPFPAL HGASTKPFPA DVAGHAFTNG
PLVFAFHQPQ GAWPEEAVGT GPAYPLPTQP APSPLPCYQG QPGGLNRHSD LSGALSSPGA
AHSAPRPFSD SLHKSLTKIL PERPPSAQDG LGSTRGPPSS LPQRHFPGQA YRASGVDTSP
GPPDTELAAP GPPPARLPQL WDPTAAPYPT PPGGPLAATR SMFFNGQPSP GQRLCLPQSA
PLPWPQVLPT ARPSPHGMEM LSRLPFPAGG PEWQGGSQGA LGTAGKTPGP REKLPAVRSS
QGGSPALFTY NGMTDPGAQP LFFGVAQPQV SPHGTPSLPP PRVVGASPSE SPLPSPATNT
AGSTCSSLSP MSSSPANPSS EESQLPGPLG PSAFFHPPTH PQETGSPFPS PEPPHSLPTH
YQPEPAKAFP FPADGLGAEG AFQCLEETPF PHEGPEVGRG GLQGFPRAPP PYPTHHFSLS
SASLDQLDVL LTCRQCDRNY SSLAAFLAHR QFCGLLLARA KDGHQRSPGP PGLPSPPAAP
RVPADAHAGL LSHAKTFLLA GDAQAEGKDD PLRTGFLPSL AATPFPLPAS DLDMEDDAKL
DSLITEALNG MEYQSDNPEI DSSFIDVFAD EEPSGPRGPS SGHPLKSKAG VTPESKAPPP
LPAATPDPQT PRPGDRGCPA RGRPKTRSLG LAPTEADAPS QGRQQRRGKQ LKLFRKDLDS
GGAAEGSGSG GGGRASGLRP RRNDGLGERP PPRPRRPRTQ APGSRADPAP RVPRAAALPE
ETRSSRRRRL PPRKDPRKRK ARGGAWGKEL ILKIVQQKNR RHRRLGRRAG RCGSLAAGRP
RPGAEDRRLR EYDFASESEE DEQPPPRGPG FRGRRGRGEK RKEVELTQGP REDEPQKPRK
AARQEAGGDG APANPEEPGG SRPGPGRSPQ ARGPSRSLET GAAAREGGPE CADRPSVAPK
DPLQVPTNTE TSEETRPSLD FPQEAKEPET AEESAPDSTE FTEALRSPPA ACAGEMGASP
GLLIPEQPPP SRHDTGTPKP SGSLANTAPH GSSPTPGVGS LLGGPGGTQA PVSHNSKDPP
ARQPGEFLAP VANPSSTACP KPSVLSSKIS SFGCDPAGFN RDPLGVPVAK KGPQPYSSPH
SELFLGPKDL AGCFLEELHP KPSARDAPPA SSSCLCQDGE DAGSLEPQLP RSPPGTAETE
PGRAASPPTL ESSSLFPDLP VDRFDPPLYG SLSANRDSGL PFACADPPQK TVPSDPPYPS
FLLLEEVSPM LPSHFPDLSG GKVLSKTCPP ERTVVPGAAP SLPGKGSGCS VALMSHLSED
ELEIQKLVTE LESQLQRSKD TRGAPRELAE AESVGRVELG TGTEPPSQRR TCQATVPHED
TFSAADLTRV GESTAHREGA ESAVATVEAV QGRPGGTWPC PASFHPGHAA LLPCAQEDLV
SGAPFSPRGA NFHFQPVQKA GASKTGLCQA EGDSRPPQDV CLPEPSKQPG PQLDAGSLAK
CSPDQELSFP KNKEAASSQE SEDSLRLLPC EQRGGFLPEP GTADQPHRGA PAPEAFGSPA
VHLAPDLAFQ GDGAPPLDAT WPFGASPSHA AQGHSAGRAG GHLHPTAGRP GFEGNEFAPA
GASSLTAPRG REAWLVPVPS PACVSNTHPS RRSQDPALSP PIRQLQLPGP GVAKSKDGIL
GLQELTPAAQ SPPRVNPSGL EGGTVEGGKV ACGPAQGSPG GVQVTTLPAV AGHQLGLEAD
GHWGLLGQAE KTQGQGTANQ LQPENGVSPG GTDNHASVNA SPKTALTGPT EGAVLLEKCK
GSRAAMSLQE EAEPTPSPPS PNRESLALAL TAAHSRSGSE GRTPERASSP GLNKPLLATG
DSPAPSVGDL AACAPSPTSA AHMPCSLGPL PREDPLTSPS RAQGGLGGQL PASPSCRDPP
GPQQLLACSP AWAPLEEADG VQATTDTGAE DSPVAPPSLT TSPCDPKEAL AGCLLQGEGS
PLEDPSSWPP GSVSAVTCTH SGDTPKDSTL RIPEDSRKEK LWESPGRATS PPLAGAVSPS
VAVRATGLSS TPTGDEAQAG RGLPGPDPQS RGAPPHTNPD RMPRGHSSYS PSNTARLGHR
EGQAVTAVPT EPPTLQGAGP DSPACLEGEM GTSSKEPEDP GTPETGRSGA TKMPRVTCPS
TGLGLGRTTA PSSTASDFQS DSPQSHRNAS HQTPQGDPLG PQDLKQRSRG YKKKPASTEN
GQWKGQAPHG PVTCEVCAAS FRSGPGLSRH KARKHRPHPG APAEPSPAAL PAQQPLEPLA
QKCQPPRKKS HRVSGKERPN HSRGDPSHVT QPPPAQGSKE VLRAPGSPHS QQLHPPSPTE
HEVDVKTPAS KPRPDQARED ELHPKQAEKR EGRRWRREPT VDSPSHSEGK SNKKRGKLRG
RRLREESILP VSADVISDGR GSRPSPAMAS YAASPSHCLS VEGGPEADGE QPPRLATLGP
GVMEGAAETD QEALCAGETG AQKPPGDRML CPGRMDGAAL GEQPTGQKGA SARGFWGPRE
TKALGVCKES GSEPAEDSSR AHSRSEEGVW EENTPPLGPL GFPETSSSPA DSTTSSCLQG
LPDNPDTQGG VQGPEGPTPD ASGSSAKDPP SLFDDEVSFS QLFPPGGRLT RKRNPHVYGK
RCEKPVLPLP TQPSFEEGGD PTLGPARLPT DLSDSSSLCL CHEDPWEDED PAGLPESFLL
DGFLNSRVPG IDPWAPGLSL WALEPSREAG AEKLPSHCPE DDRPEAIPEL HMVPAAWRGL
EMPAPADDSS SSLGDVSPEP PSLERERCDG GLPGNTHLLP LRATDFEVLS TKFEMQDLCF
LGPFEDPVGL PGPSFLDFEG TASSQGPQSR RTEEAAGAGR AQGRGRPAKG RRASYKCKVC
FQRFRSLGEL DLHKLAHTPA PPPTCYMCVE RRFGSRELLR GHLQERHAQS KAGPWACGMC
LKEVADVWMY NEHLREHAVR FARRGQARRS LGDLPGGLEG SSAVAHLLNS ITEPAPKHHR
GKRSAGKAAG SPGDPWGQEG EAKKDSPGER AKPRARSTPS NPDGAATPDS ASATALADAG
SPGPPRTTPS PSPDPWAGGE PLLQATPVHE ACKDPSRDCH HCGKRFPKPF KLQRHLAVHS
PQRVYLCPRC PRVYPEHGEL LAHLGGAHGL LERPELQHTP LYACELCATV MRIIKKSFAC
SSCNYTFAKK EQFDRHMNKH LRGGRQPFAF RGVRRPGAPG QKARALEGTL PSKRRRVAMP
GSAPGPGEDR PPPRGSSPIL SEGSLPALLH LCSEVAPSTT KGWPETLERP VDPVTHPIRG
CELPSNHQEC PPPSLSPFPA ALADGRGDCA LDGALERPEN EASPGSPGPL LQQALPLGAS
LPRPGARGQD AEGKRAPLVF SGKRRAPGAR GRCAPDHFQE DHLLQKEKEV SSSHMVSEGG
PRGTFHKGSA TKPAGCQSSS KDRSAASTPS KALKFPVHPR KAVGSLAPGE LARGTENGMK
PATPKAKPGP SSQGSGSPRP GTKTGGGSQP QPASGQLQSE TATTPAKPSF PSRSPAPERL
PARAQAKSCT KGPREAGEQG PHGSLGPKEK GESSTKRKKG QVPGPARSES VGSFGRAPSA
PDKPPRTPRK QATPSRVLPT KPKPNSQNKP RPPPSEQRKA EPGHTQRKDR LGKAFPQGRP
LLRPPKRGTA VHGAEPAEPH THRTAEAQSD LLSQLFGQRL TGFKIPLKKD ASE*
speed 0.77 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