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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000477374
Querying Taster for transcript #2: ENST00000478296
Querying Taster for transcript #3: ENST00000422325
Querying Taster for transcript #4: ENST00000400845
MT speed 0 s - this script 3.081566 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF717polymorphism_automatic1.73971947958762e-13simple_aaeaffectedT86Asingle base exchangers141704469show file
ZNF717polymorphism_automatic1.73971947958762e-13simple_aaeaffectedT36Asingle base exchangers141704469show file
ZNF717polymorphism_automatic1.73971947958762e-13simple_aaeaffectedT86Asingle base exchangers141704469show file
ZNF717polymorphism_automatic1.73971947958762e-13simple_aaeaffectedT79Asingle base exchangers141704469show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999826 (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) chr3:75790448T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF717
Ensembl transcript ID ENST00000477374
Genbank transcript ID N/A
UniProt peptide Q9BY31
alteration type single base exchange
alteration region CDS
DNA changes c.256A>G
cDNA.428A>G
g.44287A>G
AA changes T86A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 86
frameshift no
known variant Reference ID: rs141704469
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC7313811112
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.760
-2.710
(flanking)0.030.078
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased44278wt: 0.59 / mu: 0.75wt: GGATAGTAGAAGAAA
mu: GGATAGTAGAAGAAG		 ATAG|taga
Donor marginally increased44280wt: 0.2014 / mu: 0.2219 (marginal change - not scored)wt: ATAGTAGAAGAAACC
mu: ATAGTAGAAGAAGCC		 AGTA|gaag
Donor gained442810.97mu: TAGTAGAAGAAGCCC GTAG|aaga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      86EQGAEPWIVEETPNLRLSGGSKKQ
mutated  not conserved    86EQGAEPWIVEEAPNLRLSGGSKK
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000018453  66WLGEEWANQCLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037001  123WRAEDVP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1586DOMAINKRAB.lost
202224ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
259270ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
276298ZN_FINGC2H2-type 3; degenerate.might get lost (downstream of altered splice site)
304326ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
332354ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
360382ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
388410ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
391391MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
402402MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
416438ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
444466ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
472494ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
500522ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
528550ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
556578ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
584606ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
612634ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
642659ZN_FINGC2H2-type 16; degenerate.might get lost (downstream of altered splice site)
664664CONFLICTR -> H (in Ref. 2; AAK28319).might get lost (downstream of altered splice site)
731742ZN_FINGC2H2-type 17; degenerate.might get lost (downstream of altered splice site)
748770ZN_FINGC2H2-type 18.might get lost (downstream of altered splice site)
776798ZN_FINGC2H2-type 19.might get lost (downstream of altered splice site)
804826ZN_FINGC2H2-type 20.might get lost (downstream of altered splice site)
832854ZN_FINGC2H2-type 21.might get lost (downstream of altered splice site)
860882ZN_FINGC2H2-type 22.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 345 / 345
position (AA) of stopcodon in wt / mu AA sequence 115 / 115
position of stopcodon in wt / mu cDNA 517 / 517
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 173 / 173
chromosome 3
strand -1
last intron/exon boundary 512
theoretical NMD boundary in CDS 289
length of CDS 345
coding sequence (CDS) position 256
cDNA position
(for ins/del: last normal base / first normal base)		 428
gDNA position
(for ins/del: last normal base / first normal base)		 44287
chromosomal position
(for ins/del: last normal base / first normal base)		 75790448
original gDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered gDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
original cDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered cDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
wildtype AA sequence MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV MLETYSSLVS
LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSGGSKKQVF SGICHRSLVE LQEV*
mutated AA sequence MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV MLETYSSLVS
LGHYITKPEM IFKLEQGAEP WIVEEAPNLR LSGGSKKQVF SGICHRSLVE LQEV*
speed 0.44 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: 0.999999999999826 (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) chr3:75790448T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF717
Ensembl transcript ID ENST00000478296
Genbank transcript ID N/A
UniProt peptide Q9BY31
alteration type single base exchange
alteration region CDS
DNA changes c.106A>G
cDNA.383A>G
g.44287A>G
AA changes T36A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs141704469
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC7313811112
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.760
-2.710
(flanking)0.030.078
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased44278wt: 0.59 / mu: 0.75wt: GGATAGTAGAAGAAA
mu: GGATAGTAGAAGAAG		 ATAG|taga
Donor marginally increased44280wt: 0.2014 / mu: 0.2219 (marginal change - not scored)wt: ATAGTAGAAGAAACC
mu: ATAGTAGAAGAAGCC		 AGTA|gaag
Donor gained442810.97mu: TAGTAGAAGAAGCCC GTAG|aaga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36EQGAEPWIVEETPNLRLSAVQIID
mutated  not conserved    36EQGAEPWIVEEAPNLRLSAVQII
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000018453  66EQGAEPWLGEEWANQCLS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037001  123EQGAEPWRAEDVPKQSRADVQKI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1586DOMAINKRAB.lost
202224ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
259270ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
276298ZN_FINGC2H2-type 3; degenerate.might get lost (downstream of altered splice site)
304326ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
332354ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
360382ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
388410ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
391391MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
402402MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
416438ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
444466ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
472494ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
500522ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
528550ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
556578ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
584606ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
612634ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
642659ZN_FINGC2H2-type 16; degenerate.might get lost (downstream of altered splice site)
664664CONFLICTR -> H (in Ref. 2; AAK28319).might get lost (downstream of altered splice site)
731742ZN_FINGC2H2-type 17; degenerate.might get lost (downstream of altered splice site)
748770ZN_FINGC2H2-type 18.might get lost (downstream of altered splice site)
776798ZN_FINGC2H2-type 19.might get lost (downstream of altered splice site)
804826ZN_FINGC2H2-type 20.might get lost (downstream of altered splice site)
832854ZN_FINGC2H2-type 21.might get lost (downstream of altered splice site)
860882ZN_FINGC2H2-type 22.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2595 / 2595
position (AA) of stopcodon in wt / mu AA sequence 865 / 865
position of stopcodon in wt / mu cDNA 2872 / 2872
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 278 / 278
chromosome 3
strand -1
last intron/exon boundary 405
theoretical NMD boundary in CDS 77
length of CDS 2595
coding sequence (CDS) position 106
cDNA position
(for ins/del: last normal base / first normal base)		 383
gDNA position
(for ins/del: last normal base / first normal base)		 44287
chromosomal position
(for ins/del: last normal base / first normal base)		 75790448
original gDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered gDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
original cDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered cDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
wildtype AA sequence MLETYSSLVS LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSAVQIIDDL IERSHESHDR
FFWQIVITNS NTSTQERVEL GKTFNLNSNH VLNLIINNGN SSGMKPGQFN DCQNMLFPIK
PGETQSGEKP HVCDITRRSH RHHEHLTQHH KIQTLLQTFQ CNEQGKTFNT EAMFFIHKRV
HIVQTFGKYN EYEKACNNSA VIVQVITQVG QPTCCRKSDF TKHQQTHTGE KPYECVECEK
PSISKSDLML QCKMPTEEKP YACNWCEKLF SYKSSLIIHQ RIHTGEKPYG CNECGKTFRR
KSFLTLHERT HTGDKPYKCI ECGKTFHCKS LLTLHHRTHS GEKPYQCSEC GKTFSQKSYL
TIHHRTHTGE KPYACDHCEE AFSHKSRLTV HQRTHTGEKP YECNECGKPF INKSNLRLHQ
RTHTGEKPYE CNECGKTFHR KSFLTIHQWT HTGEKPYECN ECGKTFRCKS FLTVHQRTHA
GEKPYACNEC GKTYSHKSYL TVHHRTHTGE KPYECNECGK SFHCKSFLTI HQRTHAGKKP
YECNECEKTF INKLNLGIHK RTHTGERPYE CNECGKTFRQ KSNLSTHQGT HTGEKPYVCN
ECGKTFHRKS FLTIHQRTHT GKNRMDVMNV EKLFVRNHTL LYIRELTPGK SPMNVMNVEN
PFIRRQIFRS IKVFTRGRNP MNVANVEKPC QKSVLTVHHR THTGEKPYEC NECGKTFCHK
SNLSTHQGTH SGEKPYECDE CRKTFYDKTV LTIHQRTHTG EKPFECKECR KTFSQKSKLF
VHHRTHTGEK PFRCNECRKT FSQKSGLSIH QRTHTGEKPY ECKECGKTFC QKSHLSRHQQ
THIGEKSDVA EAGYVFPQNH SFFP*
mutated AA sequence MLETYSSLVS LGHYITKPEM IFKLEQGAEP WIVEEAPNLR LSAVQIIDDL IERSHESHDR
FFWQIVITNS NTSTQERVEL GKTFNLNSNH VLNLIINNGN SSGMKPGQFN DCQNMLFPIK
PGETQSGEKP HVCDITRRSH RHHEHLTQHH KIQTLLQTFQ CNEQGKTFNT EAMFFIHKRV
HIVQTFGKYN EYEKACNNSA VIVQVITQVG QPTCCRKSDF TKHQQTHTGE KPYECVECEK
PSISKSDLML QCKMPTEEKP YACNWCEKLF SYKSSLIIHQ RIHTGEKPYG CNECGKTFRR
KSFLTLHERT HTGDKPYKCI ECGKTFHCKS LLTLHHRTHS GEKPYQCSEC GKTFSQKSYL
TIHHRTHTGE KPYACDHCEE AFSHKSRLTV HQRTHTGEKP YECNECGKPF INKSNLRLHQ
RTHTGEKPYE CNECGKTFHR KSFLTIHQWT HTGEKPYECN ECGKTFRCKS FLTVHQRTHA
GEKPYACNEC GKTYSHKSYL TVHHRTHTGE KPYECNECGK SFHCKSFLTI HQRTHAGKKP
YECNECEKTF INKLNLGIHK RTHTGERPYE CNECGKTFRQ KSNLSTHQGT HTGEKPYVCN
ECGKTFHRKS FLTIHQRTHT GKNRMDVMNV EKLFVRNHTL LYIRELTPGK SPMNVMNVEN
PFIRRQIFRS IKVFTRGRNP MNVANVEKPC QKSVLTVHHR THTGEKPYEC NECGKTFCHK
SNLSTHQGTH SGEKPYECDE CRKTFYDKTV LTIHQRTHTG EKPFECKECR KTFSQKSKLF
VHHRTHTGEK PFRCNECRKT FSQKSGLSIH QRTHTGEKPY ECKECGKTFC QKSHLSRHQQ
THIGEKSDVA EAGYVFPQNH SFFP*
speed 0.48 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: 0.999999999999826 (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) chr3:75790448T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF717
Ensembl transcript ID ENST00000422325
Genbank transcript ID NM_001128223
UniProt peptide Q9BY31
alteration type single base exchange
alteration region CDS
DNA changes c.256A>G
cDNA.579A>G
g.44287A>G
AA changes T86A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 86
frameshift no
known variant Reference ID: rs141704469
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC7313811112
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.760
-2.710
(flanking)0.030.078
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased44278wt: 0.59 / mu: 0.75wt: GGATAGTAGAAGAAA
mu: GGATAGTAGAAGAAG		 ATAG|taga
Donor marginally increased44280wt: 0.2014 / mu: 0.2219 (marginal change - not scored)wt: ATAGTAGAAGAAACC
mu: ATAGTAGAAGAAGCC		 AGTA|gaag
Donor gained442810.97mu: TAGTAGAAGAAGCCC GTAG|aaga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      86EQGAEPWIVEETPNLRLSAVQIID
mutated  not conserved    86EQGAEPWIVEEAPNLRLSAVQII
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000018453  66WLGEEWANQCLS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037001  123WRAEDVPKQSRADVQKI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1586DOMAINKRAB.lost
202224ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
259270ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
276298ZN_FINGC2H2-type 3; degenerate.might get lost (downstream of altered splice site)
304326ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
332354ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
360382ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
388410ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
391391MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
402402MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
416438ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
444466ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
472494ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
500522ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
528550ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
556578ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
584606ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
612634ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
642659ZN_FINGC2H2-type 16; degenerate.might get lost (downstream of altered splice site)
664664CONFLICTR -> H (in Ref. 2; AAK28319).might get lost (downstream of altered splice site)
731742ZN_FINGC2H2-type 17; degenerate.might get lost (downstream of altered splice site)
748770ZN_FINGC2H2-type 18.might get lost (downstream of altered splice site)
776798ZN_FINGC2H2-type 19.might get lost (downstream of altered splice site)
804826ZN_FINGC2H2-type 20.might get lost (downstream of altered splice site)
832854ZN_FINGC2H2-type 21.might get lost (downstream of altered splice site)
860882ZN_FINGC2H2-type 22.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2745 / 2745
position (AA) of stopcodon in wt / mu AA sequence 915 / 915
position of stopcodon in wt / mu cDNA 3068 / 3068
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 324 / 324
chromosome 3
strand -1
last intron/exon boundary 601
theoretical NMD boundary in CDS 227
length of CDS 2745
coding sequence (CDS) position 256
cDNA position
(for ins/del: last normal base / first normal base)		 579
gDNA position
(for ins/del: last normal base / first normal base)		 44287
chromosomal position
(for ins/del: last normal base / first normal base)		 75790448
original gDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered gDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
original cDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered cDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
wildtype AA sequence MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV MLETYSSLVS
LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSAVQIIDDL IERSHESHDR FFWQIVITNS
NTSTQERVEL GKTFNLNSNH VLNLIINNGN SSGMKPGQFN DCQNMLFPIK PGETQSGEKP
HVCDITRRSH RHHEHLTQHH KIQTLLQTFQ CNEQGKTFNT EAMFFIHKRV HIVQTFGKYN
EYEKACNNSA VIVQVITQVG QPTCCRKSDF TKHQQTHTGE KPYECVECEK PSISKSDLML
QCKMPTEEKP YACNWCEKLF SYKSSLIIHQ RIHTGEKPYG CNECGKTFRR KSFLTLHERT
HTGDKPYKCI ECGKTFHCKS LLTLHHRTHS GEKPYQCSEC GKTFSQKSYL TIHHRTHTGE
KPYACDHCEE AFSHKSRLTV HQRTHTGEKP YECNECGKPF INKSNLRLHQ RTHTGEKPYE
CNECGKTFHR KSFLTIHQWT HTGEKPYECN ECGKTFRCKS FLTVHQRTHA GEKPYACNEC
GKTYSHKSYL TVHHRTHTGE KPYECNECGK SFHCKSFLTI HQRTHAGKKP YECNECEKTF
INKLNLGIHK RTHTGERPYE CNECGKTFRQ KSNLSTHQGT HTGEKPYVCN ECGKTFHRKS
FLTIHQRTHT GKNRMDVMNV EKLFVRNHTL LYIRELTPGK SPMNVMNVEN PFIRRQIFRS
IKVFTRGRNP MNVANVEKPC QKSVLTVHHR THTGEKPYEC NECGKTFCHK SNLSTHQGTH
SGEKPYECDE CRKTFYDKTV LTIHQRTHTG EKPFECKECR KTFSQKSKLF VHHRTHTGEK
PFRCNECRKT FSQKSGLSIH QRTHTGEKPY ECKECGKTFC QKSHLSRHQQ THIGEKSDVA
EAGYVFPQNH SFFP*
mutated AA sequence MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV MLETYSSLVS
LGHYITKPEM IFKLEQGAEP WIVEEAPNLR LSAVQIIDDL IERSHESHDR FFWQIVITNS
NTSTQERVEL GKTFNLNSNH VLNLIINNGN SSGMKPGQFN DCQNMLFPIK PGETQSGEKP
HVCDITRRSH RHHEHLTQHH KIQTLLQTFQ CNEQGKTFNT EAMFFIHKRV HIVQTFGKYN
EYEKACNNSA VIVQVITQVG QPTCCRKSDF TKHQQTHTGE KPYECVECEK PSISKSDLML
QCKMPTEEKP YACNWCEKLF SYKSSLIIHQ RIHTGEKPYG CNECGKTFRR KSFLTLHERT
HTGDKPYKCI ECGKTFHCKS LLTLHHRTHS GEKPYQCSEC GKTFSQKSYL TIHHRTHTGE
KPYACDHCEE AFSHKSRLTV HQRTHTGEKP YECNECGKPF INKSNLRLHQ RTHTGEKPYE
CNECGKTFHR KSFLTIHQWT HTGEKPYECN ECGKTFRCKS FLTVHQRTHA GEKPYACNEC
GKTYSHKSYL TVHHRTHTGE KPYECNECGK SFHCKSFLTI HQRTHAGKKP YECNECEKTF
INKLNLGIHK RTHTGERPYE CNECGKTFRQ KSNLSTHQGT HTGEKPYVCN ECGKTFHRKS
FLTIHQRTHT GKNRMDVMNV EKLFVRNHTL LYIRELTPGK SPMNVMNVEN PFIRRQIFRS
IKVFTRGRNP MNVANVEKPC QKSVLTVHHR THTGEKPYEC NECGKTFCHK SNLSTHQGTH
SGEKPYECDE CRKTFYDKTV LTIHQRTHTG EKPFECKECR KTFSQKSKLF VHHRTHTGEK
PFRCNECRKT FSQKSGLSIH QRTHTGEKPY ECKECGKTFC QKSHLSRHQQ THIGEKSDVA
EAGYVFPQNH SFFP*
speed 0.50 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: simple_aae, prob: 0.999999999999826 (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) chr3:75790448T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF717
Ensembl transcript ID ENST00000400845
Genbank transcript ID N/A
UniProt peptide Q9BY31
alteration type single base exchange
alteration region CDS
DNA changes c.235A>G
cDNA.523A>G
g.44287A>G
AA changes T79A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 79
frameshift no
known variant Reference ID: rs141704469
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC7313811112
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.760
-2.710
(flanking)0.030.078
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased44278wt: 0.59 / mu: 0.75wt: GGATAGTAGAAGAAA
mu: GGATAGTAGAAGAAG		 ATAG|taga
Donor marginally increased44280wt: 0.2014 / mu: 0.2219 (marginal change - not scored)wt: ATAGTAGAAGAAACC
mu: ATAGTAGAAGAAGCC		 AGTA|gaag
Donor gained442810.97mu: TAGTAGAAGAAGCCC GTAG|aaga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      79EQGAEPWIVEETPNLRLSAVQIID
mutated  not conserved    79EQGAEPWIVEEAPNLRLSAVQII
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000018453  66WLGEEWANQCLS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037001  123WRAEDVPKQSRADVQKI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1586DOMAINKRAB.lost
202224ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
259270ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
276298ZN_FINGC2H2-type 3; degenerate.might get lost (downstream of altered splice site)
304326ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
332354ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
360382ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
388410ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
391391MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
402402MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
416438ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
444466ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
472494ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
500522ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
528550ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
556578ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
584606ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
612634ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
642659ZN_FINGC2H2-type 16; degenerate.might get lost (downstream of altered splice site)
664664CONFLICTR -> H (in Ref. 2; AAK28319).might get lost (downstream of altered splice site)
731742ZN_FINGC2H2-type 17; degenerate.might get lost (downstream of altered splice site)
748770ZN_FINGC2H2-type 18.might get lost (downstream of altered splice site)
776798ZN_FINGC2H2-type 19.might get lost (downstream of altered splice site)
804826ZN_FINGC2H2-type 20.might get lost (downstream of altered splice site)
832854ZN_FINGC2H2-type 21.might get lost (downstream of altered splice site)
860882ZN_FINGC2H2-type 22.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2724 / 2724
position (AA) of stopcodon in wt / mu AA sequence 908 / 908
position of stopcodon in wt / mu cDNA 3012 / 3012
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 289 / 289
chromosome 3
strand -1
last intron/exon boundary 545
theoretical NMD boundary in CDS 206
length of CDS 2724
coding sequence (CDS) position 235
cDNA position
(for ins/del: last normal base / first normal base)		 523
gDNA position
(for ins/del: last normal base / first normal base)		 44287
chromosomal position
(for ins/del: last normal base / first normal base)		 75790448
original gDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered gDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
original cDNA sequence snippet AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA
altered cDNA sequence snippet AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA
wildtype AA sequence MLETYNSLVS LQELVSFEEV AVHFTWEEWQ DLDDAQRTLY RDVMLETYSS LVSLGHYITK
PEMIFKLEQG AEPWIVEETP NLRLSAVQII DDLIERSHES HDRFFWQIVI TNSNTSTQER
VELGKTFNLN SNHVLNLIIN NGNSSGMKPG QFNDCQNMLF PIKPGETQSG EKPHVCDITR
RSHRHHEHLT QHHKIQTLLQ TFQCNEQGKT FNTEAMFFIH KRVHIVQTFG KYNEYEKACN
NSAVIVQVIT QVGQPTCCRK SDFTKHQQTH TGEKPYECVE CEKPSISKSD LMLQCKMPTE
EKPYACNWCE KLFSYKSSLI IHQRIHTGEK PYGCNECGKT FRRKSFLTLH ERTHTGDKPY
KCIECGKTFH CKSLLTLHHR THSGEKPYQC SECGKTFSQK SYLTIHHRTH TGEKPYACDH
CEEAFSHKSR LTVHQRTHTG EKPYECNECG KPFINKSNLR LHQRTHTGEK PYECNECGKT
FHRKSFLTIH QWTHTGEKPY ECNECGKTFR CKSFLTVHQR THAGEKPYAC NECGKTYSHK
SYLTVHHRTH TGEKPYECNE CGKSFHCKSF LTIHQRTHAG KKPYECNECE KTFINKLNLG
IHKRTHTGER PYECNECGKT FRQKSNLSTH QGTHTGEKPY VCNECGKTFH RKSFLTIHQR
THTGKNRMDV MNVEKLFVRN HTLLYIRELT PGKSPMNVMN VENPFIRRQI FRSIKVFTRG
RNPMNVANVE KPCQKSVLTV HHRTHTGEKP YECNECGKTF CHKSNLSTHQ GTHSGEKPYE
CDECRKTFYD KTVLTIHQRT HTGEKPFECK ECRKTFSQKS KLFVHHRTHT GEKPFRCNEC
RKTFSQKSGL SIHQRTHTGE KPYECKECGK TFCQKSHLSR HQQTHIGEKS DVAEAGYVFP
QNHSFFP*
mutated AA sequence MLETYNSLVS LQELVSFEEV AVHFTWEEWQ DLDDAQRTLY RDVMLETYSS LVSLGHYITK
PEMIFKLEQG AEPWIVEEAP NLRLSAVQII DDLIERSHES HDRFFWQIVI TNSNTSTQER
VELGKTFNLN SNHVLNLIIN NGNSSGMKPG QFNDCQNMLF PIKPGETQSG EKPHVCDITR
RSHRHHEHLT QHHKIQTLLQ TFQCNEQGKT FNTEAMFFIH KRVHIVQTFG KYNEYEKACN
NSAVIVQVIT QVGQPTCCRK SDFTKHQQTH TGEKPYECVE CEKPSISKSD LMLQCKMPTE
EKPYACNWCE KLFSYKSSLI IHQRIHTGEK PYGCNECGKT FRRKSFLTLH ERTHTGDKPY
KCIECGKTFH CKSLLTLHHR THSGEKPYQC SECGKTFSQK SYLTIHHRTH TGEKPYACDH
CEEAFSHKSR LTVHQRTHTG EKPYECNECG KPFINKSNLR LHQRTHTGEK PYECNECGKT
FHRKSFLTIH QWTHTGEKPY ECNECGKTFR CKSFLTVHQR THAGEKPYAC NECGKTYSHK
SYLTVHHRTH TGEKPYECNE CGKSFHCKSF LTIHQRTHAG KKPYECNECE KTFINKLNLG
IHKRTHTGER PYECNECGKT FRQKSNLSTH QGTHTGEKPY VCNECGKTFH RKSFLTIHQR
THTGKNRMDV MNVEKLFVRN HTLLYIRELT PGKSPMNVMN VENPFIRRQI FRSIKVFTRG
RNPMNVANVE KPCQKSVLTV HHRTHTGEKP YECNECGKTF CHKSNLSTHQ GTHSGEKPYE
CDECRKTFYD KTVLTIHQRT HTGEKPFECK ECRKTFSQKS KLFVHHRTHT GEKPFRCNEC
RKTFSQKSGL SIHQRTHTGE KPYECKECGK TFCQKSHLSR HQQTHIGEKS DVAEAGYVFP
QNHSFFP*
speed 0.54 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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