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: ENST00000319783
Querying Taster for transcript #2: ENST00000543227
Querying Taster for transcript #3: ENST00000540744
Querying Taster for transcript #4: ENST00000453741
MT speed 0 s - this script 4.077634 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF611polymorphism_automatic4.39648317751562e-14simple_aaeaffectedP252Tsingle base exchangers4085565show file
ZNF611polymorphism_automatic4.39648317751562e-14simple_aaeaffectedP252Tsingle base exchangers4085565show file
ZNF611polymorphism_automatic4.39648317751562e-14simple_aaeaffectedP252Tsingle base exchangers4085565show file
ZNF611polymorphism_automatic8.00470800754738e-14simple_aaeaffectedP183Tsingle base exchangers4085565show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999956 (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) chr19:53209554G>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF611
Ensembl transcript ID ENST00000319783
Genbank transcript ID N/A
UniProt peptide Q8N823
alteration type single base exchange
alteration region CDS
DNA changes c.754C>A
cDNA.1071C>A
g.28754C>A
AA changes P252T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 252
frameshift no
known variant Reference ID: rs4085565
databasehomozygous (T/T)heterozygousallele carriers
1000G56010771637
ExAC104821180322285
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3840.011
-0.2430.002
(flanking)-0.2320.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28758wt: 0.3857 / mu: 0.4112 (marginal change - not scored)wt: ACCCCATTTAGGAGA
mu: AACCCATTTAGGAGA		 CCCA|ttta
Donor increased28749wt: 0.90 / mu: 0.99wt: ACACCAGATACCCCA
mu: ACACCAGATAACCCA		 ACCA|gata
distance from splice site 564
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      252NCSSLLRKHQIPHLGDKQYKCDVC
mutated  not conserved    252NCSSLLRKHQITHLGDKQYKCDV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000017044  183QTIHLGDKIYKRDV
Fcatus  no homologue    
Mmusculus  no homologue    
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 
231253ZN_FINGC2H2-type 1; degenerate.lost
259281ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
343364ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
370392ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
379379CONFLICTF -> S (in Ref. 1; BAC05052).might get lost (downstream of altered splice site)
398420ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
426448ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
454476ZN_FINGC2H2-type 9; degenerate.might get lost (downstream of altered splice site)
482504ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
510532ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
538560ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
566588ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
594616ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
622644ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
650672ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
678700ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2435 / 2435
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 318 / 318
chromosome 19
strand -1
last intron/exon boundary 508
theoretical NMD boundary in CDS 140
length of CDS 2118
coding sequence (CDS) position 754
cDNA position
(for ins/del: last normal base / first normal base)		 1071
gDNA position
(for ins/del: last normal base / first normal base)		 28754
chromosomal position
(for ins/del: last normal base / first normal base)		 53209554
original gDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered gDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
original cDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered cDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
wildtype AA sequence MLREEAAQKR KGKEPGMALP QGRLTFRDVA IEFSLAEWKC LNPSQRALYR EVMLENYRNL
EAVDISSKCM MKEVLSTGQG NTEVIHTGTL QRHESHHIGD FCFQEIEKEI HDIEFQCQED
ERNGLEAPMT KIKKLTGSTD QHDHRHAGNK PIKDQLGSSF YSHLPELHIF QIKGEIGNQL
EKSTNDAPSV STFQRISCRP QTQISNNYGN NPLNSSLLPQ KQEVHMREKS FQCNKSGKAF
NCSSLLRKHQ IPHLGDKQYK CDVCGKLFNH EQYLACHDRC HTVEKPYKCK ECGKTFSQES
SLTCHRRLHT GVKRYNCNEC GKIFGQNSAL LIDKAIDTGE NPYKCNECDK AFNQQSQLSH
HRIHTGEKPY KCEECDKVFS RKSTIETHKR IHTGEKPYRC KVCDTAFTWH SQLARHRRIH
TAKKTYKCNE CGKTFSHKSS LVCHHRLHGG EKSYKCKVCD KAFVWSSQLA KHTRIDCGEK
PYKCNECGKT FGQNSDLLIH KSIHTGEQPY KCDECEKVFS RKSSLETHKI GHTGEKPYKC
KVCDKAFACH SYLAKHTRIH SGEKPYKCNE CSKTFSHRSY LVCHHRVHSG EKPYKCNECS
KTFSRRSSLH CHRRLHSGEK PYKCNECGNT FRHCSSLIYH RRLHTGEKSY KCTICDKAFV
RNSLLSRHTR IHTAEKPYKC NECGKAFNQQ SHLSRHHRIH TGEKP*
mutated AA sequence MLREEAAQKR KGKEPGMALP QGRLTFRDVA IEFSLAEWKC LNPSQRALYR EVMLENYRNL
EAVDISSKCM MKEVLSTGQG NTEVIHTGTL QRHESHHIGD FCFQEIEKEI HDIEFQCQED
ERNGLEAPMT KIKKLTGSTD QHDHRHAGNK PIKDQLGSSF YSHLPELHIF QIKGEIGNQL
EKSTNDAPSV STFQRISCRP QTQISNNYGN NPLNSSLLPQ KQEVHMREKS FQCNKSGKAF
NCSSLLRKHQ ITHLGDKQYK CDVCGKLFNH EQYLACHDRC HTVEKPYKCK ECGKTFSQES
SLTCHRRLHT GVKRYNCNEC GKIFGQNSAL LIDKAIDTGE NPYKCNECDK AFNQQSQLSH
HRIHTGEKPY KCEECDKVFS RKSTIETHKR IHTGEKPYRC KVCDTAFTWH SQLARHRRIH
TAKKTYKCNE CGKTFSHKSS LVCHHRLHGG EKSYKCKVCD KAFVWSSQLA KHTRIDCGEK
PYKCNECGKT FGQNSDLLIH KSIHTGEQPY KCDECEKVFS RKSSLETHKI GHTGEKPYKC
KVCDKAFACH SYLAKHTRIH SGEKPYKCNE CSKTFSHRSY LVCHHRVHSG EKPYKCNECS
KTFSRRSSLH CHRRLHSGEK PYKCNECGNT FRHCSSLIYH RRLHTGEKSY KCTICDKAFV
RNSLLSRHTR IHTAEKPYKC NECGKAFNQQ SHLSRHHRIH TGEKP*
speed 0.33 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: 0.999999999999956 (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) chr19:53209554G>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF611
Ensembl transcript ID ENST00000543227
Genbank transcript ID NM_001161499
UniProt peptide Q8N823
alteration type single base exchange
alteration region CDS
DNA changes c.754C>A
cDNA.1029C>A
g.28754C>A
AA changes P252T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 252
frameshift no
known variant Reference ID: rs4085565
databasehomozygous (T/T)heterozygousallele carriers
1000G56010771637
ExAC104821180322285
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3840.011
-0.2430.002
(flanking)-0.2320.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28758wt: 0.3857 / mu: 0.4112 (marginal change - not scored)wt: ACCCCATTTAGGAGA
mu: AACCCATTTAGGAGA		 CCCA|ttta
Donor increased28749wt: 0.90 / mu: 0.99wt: ACACCAGATACCCCA
mu: ACACCAGATAACCCA		 ACCA|gata
distance from splice site 564
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      252NCSSLLRKHQIPHLGDKQYKCDVC
mutated  not conserved    252NCSSLLRKHQITHLGDKQYKCDV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000017044  183QTIHLGDKIYKRDV
Fcatus  no homologue    
Mmusculus  no homologue    
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 
231253ZN_FINGC2H2-type 1; degenerate.lost
259281ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
343364ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
370392ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
379379CONFLICTF -> S (in Ref. 1; BAC05052).might get lost (downstream of altered splice site)
398420ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
426448ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
454476ZN_FINGC2H2-type 9; degenerate.might get lost (downstream of altered splice site)
482504ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
510532ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
538560ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
566588ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
594616ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
622644ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
650672ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
678700ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2393 / 2393
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 276 / 276
chromosome 19
strand -1
last intron/exon boundary 466
theoretical NMD boundary in CDS 140
length of CDS 2118
coding sequence (CDS) position 754
cDNA position
(for ins/del: last normal base / first normal base)		 1029
gDNA position
(for ins/del: last normal base / first normal base)		 28754
chromosomal position
(for ins/del: last normal base / first normal base)		 53209554
original gDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered gDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
original cDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered cDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
wildtype AA sequence MLREEAAQKR KGKEPGMALP QGRLTFRDVA IEFSLAEWKC LNPSQRALYR EVMLENYRNL
EAVDISSKCM MKEVLSTGQG NTEVIHTGTL QRHESHHIGD FCFQEIEKEI HDIEFQCQED
ERNGLEAPMT KIKKLTGSTD QHDHRHAGNK PIKDQLGSSF YSHLPELHIF QIKGEIGNQL
EKSTNDAPSV STFQRISCRP QTQISNNYGN NPLNSSLLPQ KQEVHMREKS FQCNKSGKAF
NCSSLLRKHQ IPHLGDKQYK CDVCGKLFNH EQYLACHDRC HTVEKPYKCK ECGKTFSQES
SLTCHRRLHT GVKRYNCNEC GKIFGQNSAL LIDKAIDTGE NPYKCNECDK AFNQQSQLSH
HRIHTGEKPY KCEECDKVFS RKSTIETHKR IHTGEKPYRC KVCDTAFTWH SQLARHRRIH
TAKKTYKCNE CGKTFSHKSS LVCHHRLHGG EKSYKCKVCD KAFVWSSQLA KHTRIDCGEK
PYKCNECGKT FGQNSDLLIH KSIHTGEQPY KCDECEKVFS RKSSLETHKI GHTGEKPYKC
KVCDKAFACH SYLAKHTRIH SGEKPYKCNE CSKTFSHRSY LVCHHRVHSG EKPYKCNECS
KTFSRRSSLH CHRRLHSGEK PYKCNECGNT FRHCSSLIYH RRLHTGEKSY KCTICDKAFV
RNSLLSRHTR IHTAEKPYKC NECGKAFNQQ SHLSRHHRIH TGEKP*
mutated AA sequence MLREEAAQKR KGKEPGMALP QGRLTFRDVA IEFSLAEWKC LNPSQRALYR EVMLENYRNL
EAVDISSKCM MKEVLSTGQG NTEVIHTGTL QRHESHHIGD FCFQEIEKEI HDIEFQCQED
ERNGLEAPMT KIKKLTGSTD QHDHRHAGNK PIKDQLGSSF YSHLPELHIF QIKGEIGNQL
EKSTNDAPSV STFQRISCRP QTQISNNYGN NPLNSSLLPQ KQEVHMREKS FQCNKSGKAF
NCSSLLRKHQ ITHLGDKQYK CDVCGKLFNH EQYLACHDRC HTVEKPYKCK ECGKTFSQES
SLTCHRRLHT GVKRYNCNEC GKIFGQNSAL LIDKAIDTGE NPYKCNECDK AFNQQSQLSH
HRIHTGEKPY KCEECDKVFS RKSTIETHKR IHTGEKPYRC KVCDTAFTWH SQLARHRRIH
TAKKTYKCNE CGKTFSHKSS LVCHHRLHGG EKSYKCKVCD KAFVWSSQLA KHTRIDCGEK
PYKCNECGKT FGQNSDLLIH KSIHTGEQPY KCDECEKVFS RKSSLETHKI GHTGEKPYKC
KVCDKAFACH SYLAKHTRIH SGEKPYKCNE CSKTFSHRSY LVCHHRVHSG EKPYKCNECS
KTFSRRSSLH CHRRLHSGEK PYKCNECGNT FRHCSSLIYH RRLHTGEKSY KCTICDKAFV
RNSLLSRHTR IHTAEKPYKC NECGKAFNQQ SHLSRHHRIH TGEKP*
speed 0.96 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: 0.999999999999956 (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) chr19:53209554G>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF611
Ensembl transcript ID ENST00000540744
Genbank transcript ID NM_001161500
UniProt peptide Q8N823
alteration type single base exchange
alteration region CDS
DNA changes c.754C>A
cDNA.929C>A
g.28754C>A
AA changes P252T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 252
frameshift no
known variant Reference ID: rs4085565
databasehomozygous (T/T)heterozygousallele carriers
1000G56010771637
ExAC104821180322285
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3840.011
-0.2430.002
(flanking)-0.2320.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28758wt: 0.3857 / mu: 0.4112 (marginal change - not scored)wt: ACCCCATTTAGGAGA
mu: AACCCATTTAGGAGA		 CCCA|ttta
Donor increased28749wt: 0.90 / mu: 0.99wt: ACACCAGATACCCCA
mu: ACACCAGATAACCCA		 ACCA|gata
distance from splice site 564
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      252NCSSLLRKHQIPHLGDKQYKCDVC
mutated  not conserved    252NCSSLLRKHQITHLGDKQYKCDV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000017044  183QTIHLGDKIYKRDV
Fcatus  no homologue    
Mmusculus  no homologue    
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 
231253ZN_FINGC2H2-type 1; degenerate.lost
259281ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
343364ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
370392ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
379379CONFLICTF -> S (in Ref. 1; BAC05052).might get lost (downstream of altered splice site)
398420ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
426448ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
454476ZN_FINGC2H2-type 9; degenerate.might get lost (downstream of altered splice site)
482504ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
510532ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
538560ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
566588ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
594616ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
622644ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
650672ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
678700ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2293 / 2293
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 176 / 176
chromosome 19
strand -1
last intron/exon boundary 366
theoretical NMD boundary in CDS 140
length of CDS 2118
coding sequence (CDS) position 754
cDNA position
(for ins/del: last normal base / first normal base)		 929
gDNA position
(for ins/del: last normal base / first normal base)		 28754
chromosomal position
(for ins/del: last normal base / first normal base)		 53209554
original gDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered gDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
original cDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered cDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
wildtype AA sequence MLREEAAQKR KGKEPGMALP QGRLTFRDVA IEFSLAEWKC LNPSQRALYR EVMLENYRNL
EAVDISSKCM MKEVLSTGQG NTEVIHTGTL QRHESHHIGD FCFQEIEKEI HDIEFQCQED
ERNGLEAPMT KIKKLTGSTD QHDHRHAGNK PIKDQLGSSF YSHLPELHIF QIKGEIGNQL
EKSTNDAPSV STFQRISCRP QTQISNNYGN NPLNSSLLPQ KQEVHMREKS FQCNKSGKAF
NCSSLLRKHQ IPHLGDKQYK CDVCGKLFNH EQYLACHDRC HTVEKPYKCK ECGKTFSQES
SLTCHRRLHT GVKRYNCNEC GKIFGQNSAL LIDKAIDTGE NPYKCNECDK AFNQQSQLSH
HRIHTGEKPY KCEECDKVFS RKSTIETHKR IHTGEKPYRC KVCDTAFTWH SQLARHRRIH
TAKKTYKCNE CGKTFSHKSS LVCHHRLHGG EKSYKCKVCD KAFVWSSQLA KHTRIDCGEK
PYKCNECGKT FGQNSDLLIH KSIHTGEQPY KCDECEKVFS RKSSLETHKI GHTGEKPYKC
KVCDKAFACH SYLAKHTRIH SGEKPYKCNE CSKTFSHRSY LVCHHRVHSG EKPYKCNECS
KTFSRRSSLH CHRRLHSGEK PYKCNECGNT FRHCSSLIYH RRLHTGEKSY KCTICDKAFV
RNSLLSRHTR IHTAEKPYKC NECGKAFNQQ SHLSRHHRIH TGEKP*
mutated AA sequence MLREEAAQKR KGKEPGMALP QGRLTFRDVA IEFSLAEWKC LNPSQRALYR EVMLENYRNL
EAVDISSKCM MKEVLSTGQG NTEVIHTGTL QRHESHHIGD FCFQEIEKEI HDIEFQCQED
ERNGLEAPMT KIKKLTGSTD QHDHRHAGNK PIKDQLGSSF YSHLPELHIF QIKGEIGNQL
EKSTNDAPSV STFQRISCRP QTQISNNYGN NPLNSSLLPQ KQEVHMREKS FQCNKSGKAF
NCSSLLRKHQ ITHLGDKQYK CDVCGKLFNH EQYLACHDRC HTVEKPYKCK ECGKTFSQES
SLTCHRRLHT GVKRYNCNEC GKIFGQNSAL LIDKAIDTGE NPYKCNECDK AFNQQSQLSH
HRIHTGEKPY KCEECDKVFS RKSTIETHKR IHTGEKPYRC KVCDTAFTWH SQLARHRRIH
TAKKTYKCNE CGKTFSHKSS LVCHHRLHGG EKSYKCKVCD KAFVWSSQLA KHTRIDCGEK
PYKCNECGKT FGQNSDLLIH KSIHTGEQPY KCDECEKVFS RKSSLETHKI GHTGEKPYKC
KVCDKAFACH SYLAKHTRIH SGEKPYKCNE CSKTFSHRSY LVCHHRVHSG EKPYKCNECS
KTFSRRSSLH CHRRLHSGEK PYKCNECGNT FRHCSSLIYH RRLHTGEKSY KCTICDKAFV
RNSLLSRHTR IHTAEKPYKC NECGKAFNQQ SHLSRHHRIH TGEKP*
speed 0.83 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: 0.99999999999992 (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) chr19:53209554G>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF611
Ensembl transcript ID ENST00000453741
Genbank transcript ID NM_001161501
UniProt peptide Q8N823
alteration type single base exchange
alteration region CDS
DNA changes c.547C>A
cDNA.892C>A
g.28754C>A
AA changes P183T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 183
frameshift no
known variant Reference ID: rs4085565
databasehomozygous (T/T)heterozygousallele carriers
1000G56010771637
ExAC104821180322285
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3840.011
-0.2430.002
(flanking)-0.2320.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28758wt: 0.3857 / mu: 0.4112 (marginal change - not scored)wt: ACCCCATTTAGGAGA
mu: AACCCATTTAGGAGA		 CCCA|ttta
Donor increased28749wt: 0.90 / mu: 0.99wt: ACACCAGATACCCCA
mu: ACACCAGATAACCCA		 ACCA|gata
distance from splice site 564
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      183NCSSLLRKHQIPHLGDKQYKCDVC
mutated  not conserved    183QITHLGDKQYKCDV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000017044  183QTIHLGDKIYKRDV
Fcatus  no homologue    
Mmusculus  no homologue    
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 
231253ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
343364ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
370392ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
379379CONFLICTF -> S (in Ref. 1; BAC05052).might get lost (downstream of altered splice site)
398420ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
426448ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
454476ZN_FINGC2H2-type 9; degenerate.might get lost (downstream of altered splice site)
482504ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
510532ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
538560ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
566588ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
594616ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
622644ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
650672ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
678700ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1911 / 1911
position (AA) of stopcodon in wt / mu AA sequence 637 / 637
position of stopcodon in wt / mu cDNA 2256 / 2256
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 346 / 346
chromosome 19
strand -1
last intron/exon boundary 329
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1911
coding sequence (CDS) position 547
cDNA position
(for ins/del: last normal base / first normal base)		 892
gDNA position
(for ins/del: last normal base / first normal base)		 28754
chromosomal position
(for ins/del: last normal base / first normal base)		 53209554
original gDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered gDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
original cDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered cDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
wildtype AA sequence MMKEVLSTGQ GNTEVIHTGT LQRHESHHIG DFCFQEIEKE IHDIEFQCQE DERNGLEAPM
TKIKKLTGST DQHDHRHAGN KPIKDQLGSS FYSHLPELHI FQIKGEIGNQ LEKSTNDAPS
VSTFQRISCR PQTQISNNYG NNPLNSSLLP QKQEVHMREK SFQCNKSGKA FNCSSLLRKH
QIPHLGDKQY KCDVCGKLFN HEQYLACHDR CHTVEKPYKC KECGKTFSQE SSLTCHRRLH
TGVKRYNCNE CGKIFGQNSA LLIDKAIDTG ENPYKCNECD KAFNQQSQLS HHRIHTGEKP
YKCEECDKVF SRKSTIETHK RIHTGEKPYR CKVCDTAFTW HSQLARHRRI HTAKKTYKCN
ECGKTFSHKS SLVCHHRLHG GEKSYKCKVC DKAFVWSSQL AKHTRIDCGE KPYKCNECGK
TFGQNSDLLI HKSIHTGEQP YKCDECEKVF SRKSSLETHK IGHTGEKPYK CKVCDKAFAC
HSYLAKHTRI HSGEKPYKCN ECSKTFSHRS YLVCHHRVHS GEKPYKCNEC SKTFSRRSSL
HCHRRLHSGE KPYKCNECGN TFRHCSSLIY HRRLHTGEKS YKCTICDKAF VRNSLLSRHT
RIHTAEKPYK CNECGKAFNQ QSHLSRHHRI HTGEKP*
mutated AA sequence MMKEVLSTGQ GNTEVIHTGT LQRHESHHIG DFCFQEIEKE IHDIEFQCQE DERNGLEAPM
TKIKKLTGST DQHDHRHAGN KPIKDQLGSS FYSHLPELHI FQIKGEIGNQ LEKSTNDAPS
VSTFQRISCR PQTQISNNYG NNPLNSSLLP QKQEVHMREK SFQCNKSGKA FNCSSLLRKH
QITHLGDKQY KCDVCGKLFN HEQYLACHDR CHTVEKPYKC KECGKTFSQE SSLTCHRRLH
TGVKRYNCNE CGKIFGQNSA LLIDKAIDTG ENPYKCNECD KAFNQQSQLS HHRIHTGEKP
YKCEECDKVF SRKSTIETHK RIHTGEKPYR CKVCDTAFTW HSQLARHRRI HTAKKTYKCN
ECGKTFSHKS SLVCHHRLHG GEKSYKCKVC DKAFVWSSQL AKHTRIDCGE KPYKCNECGK
TFGQNSDLLI HKSIHTGEQP YKCDECEKVF SRKSSLETHK IGHTGEKPYK CKVCDKAFAC
HSYLAKHTRI HSGEKPYKCN ECSKTFSHRS YLVCHHRVHS GEKPYKCNEC SKTFSRRSSL
HCHRRLHSGE KPYKCNECGN TFRHCSSLIY HRRLHTGEKS YKCTICDKAF VRNSLLSRHT
RIHTAEKPYK CNECGKAFNQ QSHLSRHHRI HTGEKP*
speed 0.21 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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Problems