Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999717 (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 ENST00000437464
Genbank transcript ID NM_001127464
UniProt peptide Q96JG9
alteration type single base exchange
alteration region CDS
DNA changes c.3484A>G
cDNA.3484A>G
g.3568A>G
AA changes K1162E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1162
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 305
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1162ETGAAAREGGPKCADRPSVAPKDP
mutated  all conserved    1162ETGAAAREGGPECADRPSVAPKD
Ptroglodytes  all identical  ENSPTRG00000041055  1162ETGAAAREGGPKCADRPSVAPKD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000043903  413QSEMASTPTEPSC---PSWASST
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 11778 / 11778
position (AA) of stopcodon in wt / mu AA sequence 3926 / 3926
position of stopcodon in wt / mu cDNA 11778 / 11778
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 3180
theoretical NMD boundary in CDS 3129
length of CDS 11778
coding sequence (CDS) position 3484
cDNA position
(for ins/del: last normal base / first normal base)
3484
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 LREYDFASES EEDEQPPPRG
PGFRGRRGRG EKRKEVELTQ GPREDEPQKP RKAARQEAGG DGAPANPEEP GGSRPGPGRS
PQARGPSRSL ETGAAAREGG PKCADRPSVA PKDPLQVPTN TETSEETRPS LDFPQEAKEP
ETAEESAPDS TEFTEALRSP PAACAGEMGA SPGLLIPEQP PPSRHDTGTP KPSGSLANTA
PHGSSPTPGV GSLLGGPGGT QAPVSHNSKD PPARQPGEFL APVANPSSTA CPKPSVLSSK
ISSFGCDPAG FNRDPLGVPV AKKGPQPYSS PHSELFLGPK DLAGCFLEEL HPKPSARDAP
PASSSCLCQD GEDAGSLEPQ LPRSPPGTAE TEPGRAASPP TLESSSLFPD LPVDRFDPPL
YGSLSANRDS GLPFACADPP QKTVPSDPPY PSFLLLEEVS PMLPSHFPDL SGGKVLSKTC
PPERTVVPGA APSLPGKGSG CSVALMSHLS EDELEIQKLV TELESQLQRS KDTRGAPREL
AEAESVGRVE LGTGTEPPSQ RRTCQATVPH EDTFSAADLT RVGESTAHRE GAESAVATVE
AVQGRPGGTW PCPASFHPGH AALLPCAQED LVSGAPFSPR GANFHFQPVQ KAGASKTGLC
QAEGDSRPPQ DVCLPEPSKQ PGPQLDAGSL AKCSPDQELS FPKNKEAASS QESEDSLRLL
PCEQRGGFLP EPGTADQPHR GAPAPEAFGS PAVHLAPDLA FQGDGAPPLD ATWPFGASPS
HAAQGHSAGR AGGHLHPTAG RPGFEGNEFA PAGASSLTAP RGREAWLVPV PSPACVSNTH
PSRRSQDPAL SPPIRQLQLP GPGVAKSKDG ILGLQELTPA AQSPPRVNPS GLEGGTVEGG
KVACGPAQGS PGGVQVTTLP AVAGHQLGLE ADGHWGLLGQ AEKTQGQGTA NQLQPENGVS
PGGTDNHASV NASPKTALTG PTEGAVLLEK CKGSRAAMSL QEEAEPTPSP PSPNRESLAL
ALTAAHSRSG SEGRTPERAS SPGLNKPLLA TGDSPAPSVG DLAACAPSPT SAAHMPCSLG
PLPREDPLTS PSRAQGGLGG QLPASPSCRD PPGPQQLLAC SPAWAPLEEA DGVQATTDTG
AEDSPVAPPS LTTSPCDPKE ALAGCLLQGE GSPLEDPSSW PPGSVSAVTC THSGDTPKDS
TLRIPEDSRK EKLWESPGRA TSPPLAGAVS PSVAVRATGL SSTPTGDEAQ AGRGLPGPDP
QSRGAPPHTN PDRMPRGHSS YSPSNTARLG HREGQAVTAV PTEPPTLQGA GPDSPACLEG
EMGTSSKEPE DPGTPETGRS GATKMPRVTC PSTGLGLGRT TAPSSTASDF QSDSPQSHRN
ASHQTPQGDP LGPQDLKQRS RGYKKKPAST ENGQWKGQAP HGPVTCEVCA ASFRSGPGLS
RHKARKHRPH PGAPAEPSPA ALPAQQPLEP LAQKCQPPRK KSHRVSGKER PNHSRGDPSH
VTQPPPAQGS KEVLRAPGSP HSQQLHPPSP TEHEVDVKTP ASKPRPDQAR EDELHPKQAE
KREGRRWRRE PTVDSPSHSE GKSNKKRGKL RGRRLREESI LPVSADVISD GRGSRPSPAM
ASYAASPSHC LSVEGGPEAD GEQPPRLATL GPGVMEGAAE TDQEALCAGE TGAQKPPGDR
MLCPGRMDGA ALGEQPTGQK GASARGFWGP RETKALGVCK ESGSEPAEDS SRAHSRSEEG
VWEENTPPLG PLGFPETSSS PADSTTSSCL QGLPDNPDTQ GGVQGPEGPT PDASGSSAKD
PPSLFDDEVS FSQLFPPGGR LTRKRNPHVY GKRCEKPVLP LPTQPSFEEG GDPTLGPARL
PTDLSDSSSL CLCHEDPWED EDPAGLPESF LLDGFLNSRV PGIDPWAPGL SLWALEPSRE
AGAEKLPSHC PEDDRPEAIP ELHMVPAAWR GLEMPAPADD SSSSLGDVSP EPPSLERERC
DGGLPGNTHL LPLRATDFEV LSTKFEMQDL CFLGPFEDPV GLPGPSFLDF EGTASSQGPQ
SRRTEEAAGA GRAQGRGRPA KGRRASYKCK VCFQRFRSLG ELDLHKLAHT PAPPPTCYMC
VERRFGSREL LRGHLQERHA QSKAGPWACG MCLKEVADVW MYNEHLREHA VRFARRGQAR
RSLGDLPGGL EGSSAVAHLL NSITEPAPKH HRGKRSAGKA AGSPGDPWGQ EGEAKKDSPG
ERAKPRARST PSNPDGAATP DSASATALAD AGSPGPPRTT PSPSPDPWAG GEPLLQATPV
HEACKDPSRD CHHCGKRFPK PFKLQRHLAV HSPQRVYLCP RCPRVYPEHG ELLAHLGGAH
GLLERPELQH TPLYACELCA TVMRIIKKSF ACSSCNYTFA KKEQFDRHMN KHLRGGRQPF
AFRGVRRPGA PGQKARALEG TLPSKRRRVA MPGSAPGPGE DRPPPRGSSP ILSEGSLPAL
LHLCSEVAPS TTKGWPETLE RPVDPVTHPI RGCELPSNHQ ECPPPSLSPF PAALADGRGD
CALDGALERP ENEASPGSPG PLLQQALPLG ASLPRPGARG QDAEGKRAPL VFSGKRRAPG
ARGRCAPDHF QEDHLLQKEK EVSSSHMVSE GGPRGTFHKG SATKPAGCQS SSKDRSAAST
PSKALKFPVH PRKAVGSLAP GELARGTENG MKPATPKAKP GPSSQGSGSP RPGTKTGGGS
QPQPASGQLQ SETATTPAKP SFPSRSPAPE RLPARAQAKS CTKGPREAGE QGPHGSLGPK
EKGESSTKRK KGQVPGPARS ESVGSFGRAP SAPDKPPRTP RKQATPSRVL PTKPKPNSQN
KPRPPPSEQR KAEPGHTQRK DRLGKAFPQG RPLLRPPKRG TAVHGAEPAE PHTHRTAEAQ
SDLLSQLFGQ RLTGFKIPLK KDASE*
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 LREYDFASES EEDEQPPPRG
PGFRGRRGRG EKRKEVELTQ GPREDEPQKP RKAARQEAGG DGAPANPEEP GGSRPGPGRS
PQARGPSRSL ETGAAAREGG PECADRPSVA PKDPLQVPTN TETSEETRPS LDFPQEAKEP
ETAEESAPDS TEFTEALRSP PAACAGEMGA SPGLLIPEQP PPSRHDTGTP KPSGSLANTA
PHGSSPTPGV GSLLGGPGGT QAPVSHNSKD PPARQPGEFL APVANPSSTA CPKPSVLSSK
ISSFGCDPAG FNRDPLGVPV AKKGPQPYSS PHSELFLGPK DLAGCFLEEL HPKPSARDAP
PASSSCLCQD GEDAGSLEPQ LPRSPPGTAE TEPGRAASPP TLESSSLFPD LPVDRFDPPL
YGSLSANRDS GLPFACADPP QKTVPSDPPY PSFLLLEEVS PMLPSHFPDL SGGKVLSKTC
PPERTVVPGA APSLPGKGSG CSVALMSHLS EDELEIQKLV TELESQLQRS KDTRGAPREL
AEAESVGRVE LGTGTEPPSQ RRTCQATVPH EDTFSAADLT RVGESTAHRE GAESAVATVE
AVQGRPGGTW PCPASFHPGH AALLPCAQED LVSGAPFSPR GANFHFQPVQ KAGASKTGLC
QAEGDSRPPQ DVCLPEPSKQ PGPQLDAGSL AKCSPDQELS FPKNKEAASS QESEDSLRLL
PCEQRGGFLP EPGTADQPHR GAPAPEAFGS PAVHLAPDLA FQGDGAPPLD ATWPFGASPS
HAAQGHSAGR AGGHLHPTAG RPGFEGNEFA PAGASSLTAP RGREAWLVPV PSPACVSNTH
PSRRSQDPAL SPPIRQLQLP GPGVAKSKDG ILGLQELTPA AQSPPRVNPS GLEGGTVEGG
KVACGPAQGS PGGVQVTTLP AVAGHQLGLE ADGHWGLLGQ AEKTQGQGTA NQLQPENGVS
PGGTDNHASV NASPKTALTG PTEGAVLLEK CKGSRAAMSL QEEAEPTPSP PSPNRESLAL
ALTAAHSRSG SEGRTPERAS SPGLNKPLLA TGDSPAPSVG DLAACAPSPT SAAHMPCSLG
PLPREDPLTS PSRAQGGLGG QLPASPSCRD PPGPQQLLAC SPAWAPLEEA DGVQATTDTG
AEDSPVAPPS LTTSPCDPKE ALAGCLLQGE GSPLEDPSSW PPGSVSAVTC THSGDTPKDS
TLRIPEDSRK EKLWESPGRA TSPPLAGAVS PSVAVRATGL SSTPTGDEAQ AGRGLPGPDP
QSRGAPPHTN PDRMPRGHSS YSPSNTARLG HREGQAVTAV PTEPPTLQGA GPDSPACLEG
EMGTSSKEPE DPGTPETGRS GATKMPRVTC PSTGLGLGRT TAPSSTASDF QSDSPQSHRN
ASHQTPQGDP LGPQDLKQRS RGYKKKPAST ENGQWKGQAP HGPVTCEVCA ASFRSGPGLS
RHKARKHRPH PGAPAEPSPA ALPAQQPLEP LAQKCQPPRK KSHRVSGKER PNHSRGDPSH
VTQPPPAQGS KEVLRAPGSP HSQQLHPPSP TEHEVDVKTP ASKPRPDQAR EDELHPKQAE
KREGRRWRRE PTVDSPSHSE GKSNKKRGKL RGRRLREESI LPVSADVISD GRGSRPSPAM
ASYAASPSHC LSVEGGPEAD GEQPPRLATL GPGVMEGAAE TDQEALCAGE TGAQKPPGDR
MLCPGRMDGA ALGEQPTGQK GASARGFWGP RETKALGVCK ESGSEPAEDS SRAHSRSEEG
VWEENTPPLG PLGFPETSSS PADSTTSSCL QGLPDNPDTQ GGVQGPEGPT PDASGSSAKD
PPSLFDDEVS FSQLFPPGGR LTRKRNPHVY GKRCEKPVLP LPTQPSFEEG GDPTLGPARL
PTDLSDSSSL CLCHEDPWED EDPAGLPESF LLDGFLNSRV PGIDPWAPGL SLWALEPSRE
AGAEKLPSHC PEDDRPEAIP ELHMVPAAWR GLEMPAPADD SSSSLGDVSP EPPSLERERC
DGGLPGNTHL LPLRATDFEV LSTKFEMQDL CFLGPFEDPV GLPGPSFLDF EGTASSQGPQ
SRRTEEAAGA GRAQGRGRPA KGRRASYKCK VCFQRFRSLG ELDLHKLAHT PAPPPTCYMC
VERRFGSREL LRGHLQERHA QSKAGPWACG MCLKEVADVW MYNEHLREHA VRFARRGQAR
RSLGDLPGGL EGSSAVAHLL NSITEPAPKH HRGKRSAGKA AGSPGDPWGQ EGEAKKDSPG
ERAKPRARST PSNPDGAATP DSASATALAD AGSPGPPRTT PSPSPDPWAG GEPLLQATPV
HEACKDPSRD CHHCGKRFPK PFKLQRHLAV HSPQRVYLCP RCPRVYPEHG ELLAHLGGAH
GLLERPELQH TPLYACELCA TVMRIIKKSF ACSSCNYTFA KKEQFDRHMN KHLRGGRQPF
AFRGVRRPGA PGQKARALEG TLPSKRRRVA MPGSAPGPGE DRPPPRGSSP ILSEGSLPAL
LHLCSEVAPS TTKGWPETLE RPVDPVTHPI RGCELPSNHQ ECPPPSLSPF PAALADGRGD
CALDGALERP ENEASPGSPG PLLQQALPLG ASLPRPGARG QDAEGKRAPL VFSGKRRAPG
ARGRCAPDHF QEDHLLQKEK EVSSSHMVSE GGPRGTFHKG SATKPAGCQS SSKDRSAAST
PSKALKFPVH PRKAVGSLAP GELARGTENG MKPATPKAKP GPSSQGSGSP RPGTKTGGGS
QPQPASGQLQ SETATTPAKP SFPSRSPAPE RLPARAQAKS CTKGPREAGE QGPHGSLGPK
EKGESSTKRK KGQVPGPARS ESVGSFGRAP SAPDKPPRTP RKQATPSRVL PTKPKPNSQN
KPRPPPSEQR KAEPGHTQRK DRLGKAFPQG RPLLRPPKRG TAVHGAEPAE PHTHRTAEAQ
SDLLSQLFGQ RLTGFKIPLK KDASE*
speed 0.84 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