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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000544146
Querying Taster for transcript #2: ENST00000536937
Querying Taster for transcript #3: ENST00000301096
Querying Taster for transcript #4: ENST00000434535
Querying Taster for transcript #5: ENST00000545872
Querying Taster for transcript #6: ENST00000541777
Querying Taster for transcript #7: ENST00000391789
MT speed 0 s - this script 7.309852 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF83polymorphism2.1005419625908e-13simple_aaeK290Rsingle base exchangers113015820show file
ZNF83polymorphism2.1005419625908e-13simple_aaeK290Rsingle base exchangers113015820show file
ZNF83polymorphism2.1005419625908e-13simple_aaeK290Rsingle base exchangers113015820show file
ZNF83polymorphism2.1005419625908e-13simple_aaeK290Rsingle base exchangers113015820show file
ZNF83polymorphism2.1005419625908e-13simple_aaeK290Rsingle base exchangers113015820show file
ZNF83polymorphism1.17146933042989e-07without_aaesingle base exchangers113015820show file
ZNF83polymorphism1.17146933042989e-07without_aaesingle base exchangers113015820show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999979      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF83
Ensembl transcript ID ENST00000544146
Genbank transcript ID NM_001105549
UniProt peptide P51522
alteration type single base exchange
alteration region CDS
DNA changes c.869A>G
cDNA.1611A>G
g.76793A>G
AA changes K290R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs113015820
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099
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)-0.4970.027
0.2640.01
(flanking)-0.9870
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 1102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290HQRIHTGEKPYKCNECGKVFSHKS
mutated  all conserved    290HQRIHTGEKPYRCNECGKVFSH
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023272  290HRRIHTGEKPYKCNECGKVFSH
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 
289311ZN_FINGC2H2-type 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
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 743 / 743
chromosome 19
strand -1
last intron/exon boundary 510
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1551
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1611
gDNA position
(for ins/del: last normal base / first normal base)		 76793
chromosomal position
(for ins/del: last normal base / first normal base)		 53116949
original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
original cDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered cDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYK CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
mutated AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYR CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
speed 1.27 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: 0.99999999999979      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF83
Ensembl transcript ID ENST00000536937
Genbank transcript ID NM_001105550
UniProt peptide P51522
alteration type single base exchange
alteration region CDS
DNA changes c.869A>G
cDNA.1495A>G
g.76793A>G
AA changes K290R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs113015820
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099
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)-0.4970.027
0.2640.01
(flanking)-0.9870
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 1102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290HQRIHTGEKPYKCNECGKVFSHKS
mutated  all conserved    290HQRIHTGEKPYRCNECGKVFSH
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023272  290HRRIHTGEKPYKCNECGKVFSH
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 
289311ZN_FINGC2H2-type 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
position of stopcodon in wt / mu cDNA 2177 / 2177
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 627 / 627
chromosome 19
strand -1
last intron/exon boundary 394
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1551
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1495
gDNA position
(for ins/del: last normal base / first normal base)		 76793
chromosomal position
(for ins/del: last normal base / first normal base)		 53116949
original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
original cDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered cDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYK CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
mutated AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYR CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999979      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF83
Ensembl transcript ID ENST00000301096
Genbank transcript ID NM_001105552
UniProt peptide P51522
alteration type single base exchange
alteration region CDS
DNA changes c.869A>G
cDNA.1270A>G
g.76793A>G
AA changes K290R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs113015820
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099
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)-0.4970.027
0.2640.01
(flanking)-0.9870
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 1102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290HQRIHTGEKPYKCNECGKVFSHKS
mutated  all conserved    290HQRIHTGEKPYRCNECGKVFSH
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023272  290HRRIHTGEKPYKCNECGKVFSH
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 
289311ZN_FINGC2H2-type 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
position of stopcodon in wt / mu cDNA 1952 / 1952
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 402 / 402
chromosome 19
strand -1
last intron/exon boundary 169
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1551
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1270
gDNA position
(for ins/del: last normal base / first normal base)		 76793
chromosomal position
(for ins/del: last normal base / first normal base)		 53116949
original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
original cDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered cDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYK CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
mutated AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYR CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
speed 1.28 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: 0.99999999999979      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF83
Ensembl transcript ID ENST00000545872
Genbank transcript ID N/A
UniProt peptide P51522
alteration type single base exchange
alteration region CDS
DNA changes c.869A>G
cDNA.1315A>G
g.76793A>G
AA changes K290R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs113015820
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099
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)-0.4970.027
0.2640.01
(flanking)-0.9870
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 1102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290HQRIHTGEKPYKCNECGKVFSHKS
mutated  all conserved    290HQRIHTGEKPYRCNECGKVFSH
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023272  290HRRIHTGEKPYKCNECGKVFSH
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 
289311ZN_FINGC2H2-type 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
position of stopcodon in wt / mu cDNA 1997 / 1997
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 447 / 447
chromosome 19
strand -1
last intron/exon boundary 214
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1551
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1315
gDNA position
(for ins/del: last normal base / first normal base)		 76793
chromosomal position
(for ins/del: last normal base / first normal base)		 53116949
original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
original cDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered cDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYK CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
mutated AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYR CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
speed 1.00 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: 0.99999999999979      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF83
Ensembl transcript ID ENST00000541777
Genbank transcript ID N/A
UniProt peptide P51522
alteration type single base exchange
alteration region CDS
DNA changes c.869A>G
cDNA.1807A>G
g.76793A>G
AA changes K290R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs113015820
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099
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)-0.4970.027
0.2640.01
(flanking)-0.9870
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 1102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290HQRIHTGEKPYKCNECGKVFSHKS
mutated  all conserved    290HQRIHTGEKPYRCNECGKVFSH
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023272  290HRRIHTGEKPYKCNECGKVFSH
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 
289311ZN_FINGC2H2-type 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
position of stopcodon in wt / mu cDNA 2489 / 2489
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 939 / 939
chromosome 19
strand -1
last intron/exon boundary 706
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1551
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1807
gDNA position
(for ins/del: last normal base / first normal base)		 76793
chromosomal position
(for ins/del: last normal base / first normal base)		 53116949
original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
original cDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered cDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYK CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
mutated AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYR CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
speed 1.33 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: without_aae, prob: 0.999999882853067      (explain)
Summary
    		hyperlink
    analysed issue analysis result
    name of alteration no title
    alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
    HGNC symbol ZNF83
    Ensembl transcript ID ENST00000434535
    Genbank transcript ID N/A
    UniProt peptide N/A
    alteration type single base exchange
    alteration region intron
    DNA changes g.76793A>G
    AA changes N/A
    position(s) of altered AA
    if AA alteration in CDS    		 N/A
    frameshift N/A
    known variant Reference ID: rs113015820
    databasehomozygous (C/C)heterozygousallele carriers
    1000G---
    ExAC099
    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)-0.4970.027
    0.2640.01
    (flanking)-0.9870
    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 15
    Kozak consensus sequence altered? N/A
    conservation
    protein level for non-synonymous changes    		 N/A
    protein features N/A
    length of protein N/A
    AA sequence altered N/A
    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
    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 704 / 704
    chromosome 19
    strand -1
    last intron/exon boundary 1503
    theoretical NMD boundary in CDS 749
    length of CDS 1467
    coding sequence (CDS) position N/A
    cDNA position
    (for ins/del: last normal base / first normal base)    		 N/A
    gDNA position
    (for ins/del: last normal base / first normal base)    		 76793
    chromosomal position
    (for ins/del: last normal base / first normal base)    		 53116949
    original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
    altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
    original cDNA sequence snippet N/A
    altered cDNA sequence snippet N/A
    wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
    STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
    FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
    ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
    VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF SHKSSLVNHW RIHTGEKPYK CNECGKVFSH
    KSSLVNHWRI HTGEKPYKCN ECGKVFSRNS YLAQHLIIHA GEKPYKCDEC DKAFSQNSHL
    VQHHRIHTGE KPYKCDECGK VFSQNSYLAY HWRIHTGEKA YKCNECGKVF GLNSSLAHHR
    KIHTGEKPFK CNECGKAFSM RSSLTNHHAI HTGEKHFKCN ECGKLFRDNS YLVRHQRFHA
    GKKSNTCN*
    mutated AA sequence N/A
    speed 0.74 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: without_aae, prob: 0.999999882853067      (explain)
    Summary
      		hyperlink
      analysed issue analysis result
      name of alteration no title
      alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
      HGNC symbol ZNF83
      Ensembl transcript ID ENST00000391789
      Genbank transcript ID NM_001105553
      UniProt peptide N/A
      alteration type single base exchange
      alteration region intron
      DNA changes g.76793A>G
      AA changes N/A
      position(s) of altered AA
      if AA alteration in CDS      		 N/A
      frameshift N/A
      known variant Reference ID: rs113015820
      databasehomozygous (C/C)heterozygousallele carriers
      1000G---
      ExAC099
      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)-0.4970.027
      0.2640.01
      (flanking)-0.9870
      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 20
      Kozak consensus sequence altered? N/A
      conservation
      protein level for non-synonymous changes      		 N/A
      protein features N/A
      length of protein N/A
      AA sequence altered N/A
      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
      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 19
      strand -1
      last intron/exon boundary 805
      theoretical NMD boundary in CDS 754
      length of CDS 1467
      coding sequence (CDS) position N/A
      cDNA position
      (for ins/del: last normal base / first normal base)      		 N/A
      gDNA position
      (for ins/del: last normal base / first normal base)      		 76793
      chromosomal position
      (for ins/del: last normal base / first normal base)      		 53116949
      original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
      altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
      original cDNA sequence snippet N/A
      altered cDNA sequence snippet N/A
      wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
      STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
      FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
      ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
      VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF SHKSSLVNHW RIHTGEKPYK CNECGKVFSH
      KSSLVNHWRI HTGEKPYKCN ECGKVFSRNS YLAQHLIIHA GEKPYKCDEC DKAFSQNSHL
      VQHHRIHTGE KPYKCDECGK VFSQNSYLAY HWRIHTGEKA YKCNECGKVF GLNSSLAHHR
      KIHTGEKPFK CNECGKAFSM RSSLTNHHAI HTGEKHFKCN ECGKLFRDNS YLVRHQRFHA
      GKKSNTCN*
      mutated AA sequence N/A
      speed 0.74 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

      Problems