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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000528796
Querying Taster for transcript #2: ENST00000354599
Querying Taster for transcript #3: ENST00000399602
Querying Taster for transcript #4: ENST00000429541
Querying Taster for transcript #5: ENST00000005082
Querying Taster for transcript #6: ENST00000526601
Querying Taster for transcript #7: ENST00000438262
Querying Taster for transcript #8: ENST00000343338
MT speed 0 s - this script 8.591671 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF195polymorphism_automatic1.22672591830186e-05simple_aaeaffectedP290Rsingle base exchangers62619253show file
ZNF195polymorphism_automatic2.26234020790361e-05simple_aaeaffectedP271Rsingle base exchangers62619253show file
ZNF195polymorphism_automatic2.26234020790361e-05simple_aaeaffectedP267Rsingle base exchangers62619253show file
ZNF195polymorphism_automatic2.94573570529533e-05simple_aaeaffectedP218Rsingle base exchangers62619253show file
ZNF195polymorphism_automatic2.94573570529533e-05simple_aaeaffectedP222Rsingle base exchangers62619253show file
ZNF195polymorphism_automatic2.94573570529533e-05simple_aaeaffectedP222Rsingle base exchangers62619253show file
ZNF195polymorphism_automatic0.999999999989081without_aaeaffectedsingle base exchangers62619253show file
ZNF195polymorphism_automatic0.999999999989081without_aaeaffectedsingle base exchangers62619253show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999987732740817 (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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000399602
Genbank transcript ID NM_001130520
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.869C>G
cDNA.996C>G
g.19080C>G
AA changes P290R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 427
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    290KTFIQCSHFTERENIDTGEKPY
Ptroglodytes  not conserved  ENSPTRG00000003194  166KTFIQCSHFTEHENIDTGEKPYK
Mmulatta  not conserved  ENSMMUG00000018698  289KTFIQCSHFTEHENIDTGEKPYR
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040305  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
272294ZN_FINGC2H2-type 2; degenerate.lost
290290CONFLICTP -> R (in Ref. 2; BAG53114).lost
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1890 / 1890
position (AA) of stopcodon in wt / mu AA sequence 630 / 630
position of stopcodon in wt / mu cDNA 2017 / 2017
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 128 / 128
chromosome 11
strand -1
last intron/exon boundary 570
theoretical NMD boundary in CDS 392
length of CDS 1890
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 996
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPEMGFH HATQACLELL GSSDLPASAS QSAGITGVNH RAQPGLNVSV
DKFTALCSPG VLQTVKWFLE FRCIFSLAMS SHFTQDLLPE QGIQDAFPKR ILRGYGNCGL
DNLYLRKDWE SLDECKLQKD YNGLNQCSST THSKIFQYNK YVKIFDNFSN LHRRNISNTG
EKPFKCQECG KSFQMLSFLT EHQKIHTGKK FQKCGECGKT FIQCSHFTEP ENIDTGEKPY
KCQECNNVIK TCSVLTKNRI YAGGEHYRCE EFGKVFNQCS HLTEHEHGTE EKPCKYEECS
SVFISCSSLS NQQMILAGEK LSKCETWYKG FNHSPNPSKH QRNEIGGKPF KCEECDSIFK
WFSDLTKHKR IHTGEKPYKC DECGKAYTQS SHLSEHRRIH TGEKPYQCEE CGKVFRTCSS
LSNHKRTHSE EKPYTCEECG NIFKQLSDLT KHKKTHTGEK PYKCDECGKN FTQSSNLIVH
KRIHTGEKPY KCEECGRVFM WFSDITKHKK THTGEKPYKC DECGKNFTQS SNLIVHKRIH
TGEKPYKCEK CGKAFTQFSH LTVHESIHT*
mutated AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPEMGFH HATQACLELL GSSDLPASAS QSAGITGVNH RAQPGLNVSV
DKFTALCSPG VLQTVKWFLE FRCIFSLAMS SHFTQDLLPE QGIQDAFPKR ILRGYGNCGL
DNLYLRKDWE SLDECKLQKD YNGLNQCSST THSKIFQYNK YVKIFDNFSN LHRRNISNTG
EKPFKCQECG KSFQMLSFLT EHQKIHTGKK FQKCGECGKT FIQCSHFTER ENIDTGEKPY
KCQECNNVIK TCSVLTKNRI YAGGEHYRCE EFGKVFNQCS HLTEHEHGTE EKPCKYEECS
SVFISCSSLS NQQMILAGEK LSKCETWYKG FNHSPNPSKH QRNEIGGKPF KCEECDSIFK
WFSDLTKHKR IHTGEKPYKC DECGKAYTQS SHLSEHRRIH TGEKPYQCEE CGKVFRTCSS
LSNHKRTHSE EKPYTCEECG NIFKQLSDLT KHKKTHTGEK PYKCDECGKN FTQSSNLIVH
KRIHTGEKPY KCEECGRVFM WFSDITKHKK THTGEKPYKC DECGKNFTQS SNLIVHKRIH
TGEKPYKCEK CGKAFTQFSH LTVHESIHT*
speed 1.21 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999977376597921 (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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000526601
Genbank transcript ID NM_001242841
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.812C>G
cDNA.986C>G
g.19080C>G
AA changes P271R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 427
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    271KTFIQCSHFTERENIDTGEKPYK
Ptroglodytes  not conserved  ENSPTRG00000003194  166KTFIQCSHFTEHENIDTGEKPYK
Mmulatta  not conserved  ENSMMUG00000018698  289KTFIQCSHFTEHENIDTGEKPYR
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040305  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
272294ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
290290CONFLICTP -> R (in Ref. 2; BAG53114).might get lost (downstream of altered splice site)
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1833 / 1833
position (AA) of stopcodon in wt / mu AA sequence 611 / 611
position of stopcodon in wt / mu cDNA 2007 / 2007
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 175 / 175
chromosome 11
strand -1
last intron/exon boundary 560
theoretical NMD boundary in CDS 335
length of CDS 1833
coding sequence (CDS) position 812
cDNA position
(for ins/del: last normal base / first normal base)		 986
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPE MGFHHATQAC LELLGSSDLP ASASQSAGIT GVNHRAQPGL
NVSVDKFTAM SSHFTQDLLP EQGIQDAFPK RILRGYGNCG LDNLYLRKDW ESLDECKLQK
DYNGLNQCSS TTHSKIFQYN KYVKIFDNFS NLHRRNISNT GEKPFKCQEC GKSFQMLSFL
TEHQKIHTGK KFQKCGECGK TFIQCSHFTE PENIDTGEKP YKCQECNNVI KTCSVLTKNR
IYAGGEHYRC EEFGKVFNQC SHLTEHEHGT EEKPCKYEEC SSVFISCSSL SNQQMILAGE
KLSKCETWYK GFNHSPNPSK HQRNEIGGKP FKCEECDSIF KWFSDLTKHK RIHTGEKPYK
CDECGKAYTQ SSHLSEHRRI HTGEKPYQCE ECGKVFRTCS SLSNHKRTHS EEKPYTCEEC
GNIFKQLSDL TKHKKTHTGE KPYKCDECGK NFTQSSNLIV HKRIHTGEKP YKCEECGRVF
MWFSDITKHK KTHTGEKPYK CDECGKNFTQ SSNLIVHKRI HTGEKPYKCE KCGKAFTQFS
HLTVHESIHT *
mutated AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPE MGFHHATQAC LELLGSSDLP ASASQSAGIT GVNHRAQPGL
NVSVDKFTAM SSHFTQDLLP EQGIQDAFPK RILRGYGNCG LDNLYLRKDW ESLDECKLQK
DYNGLNQCSS TTHSKIFQYN KYVKIFDNFS NLHRRNISNT GEKPFKCQEC GKSFQMLSFL
TEHQKIHTGK KFQKCGECGK TFIQCSHFTE RENIDTGEKP YKCQECNNVI KTCSVLTKNR
IYAGGEHYRC EEFGKVFNQC SHLTEHEHGT EEKPCKYEEC SSVFISCSSL SNQQMILAGE
KLSKCETWYK GFNHSPNPSK HQRNEIGGKP FKCEECDSIF KWFSDLTKHK RIHTGEKPYK
CDECGKAYTQ SSHLSEHRRI HTGEKPYQCE ECGKVFRTCS SLSNHKRTHS EEKPYTCEEC
GNIFKQLSDL TKHKKTHTGE KPYKCDECGK NFTQSSNLIV HKRIHTGEKP YKCEECGRVF
MWFSDITKHK KTHTGEKPYK CDECGKNFTQ SSNLIVHKRI HTGEKPYKCE KCGKAFTQFS
HLTVHESIHT *
speed 0.82 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: 0.999977376597921 (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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000005082
Genbank transcript ID NM_001130519
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.800C>G
cDNA.876C>G
g.19080C>G
AA changes P267R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 267
frameshift no
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 427
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      267KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    267KTFIQCSHFTERENIDTGEKPYK
Ptroglodytes  not conserved  ENSPTRG00000003194  166KTFIQCSHFTEHENIDTGEKPYK
Mmulatta  not conserved  ENSMMUG00000018698  289KTFIQCSHFTEHENIDTGEKPYR
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040305  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
244266ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
272294ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
290290CONFLICTP -> R (in Ref. 2; BAG53114).might get lost (downstream of altered splice site)
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1821 / 1821
position (AA) of stopcodon in wt / mu AA sequence 607 / 607
position of stopcodon in wt / mu cDNA 1897 / 1897
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 77 / 77
chromosome 11
strand -1
last intron/exon boundary 450
theoretical NMD boundary in CDS 323
length of CDS 1821
coding sequence (CDS) position 800
cDNA position
(for ins/del: last normal base / first normal base)		 876
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPEMGFH HATQACLELL GSSDLPASAS QSAGITGVNH RAQPGLNVSV
DKFTAMSSHF TQDLLPEQGI QDAFPKRILR GYGNCGLDNL YLRKDWESLD ECKLQKDYNG
LNQCSSTTHS KIFQYNKYVK IFDNFSNLHR RNISNTGEKP FKCQECGKSF QMLSFLTEHQ
KIHTGKKFQK CGECGKTFIQ CSHFTEPENI DTGEKPYKCQ ECNNVIKTCS VLTKNRIYAG
GEHYRCEEFG KVFNQCSHLT EHEHGTEEKP CKYEECSSVF ISCSSLSNQQ MILAGEKLSK
CETWYKGFNH SPNPSKHQRN EIGGKPFKCE ECDSIFKWFS DLTKHKRIHT GEKPYKCDEC
GKAYTQSSHL SEHRRIHTGE KPYQCEECGK VFRTCSSLSN HKRTHSEEKP YTCEECGNIF
KQLSDLTKHK KTHTGEKPYK CDECGKNFTQ SSNLIVHKRI HTGEKPYKCE ECGRVFMWFS
DITKHKKTHT GEKPYKCDEC GKNFTQSSNL IVHKRIHTGE KPYKCEKCGK AFTQFSHLTV
HESIHT*
mutated AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPEMGFH HATQACLELL GSSDLPASAS QSAGITGVNH RAQPGLNVSV
DKFTAMSSHF TQDLLPEQGI QDAFPKRILR GYGNCGLDNL YLRKDWESLD ECKLQKDYNG
LNQCSSTTHS KIFQYNKYVK IFDNFSNLHR RNISNTGEKP FKCQECGKSF QMLSFLTEHQ
KIHTGKKFQK CGECGKTFIQ CSHFTERENI DTGEKPYKCQ ECNNVIKTCS VLTKNRIYAG
GEHYRCEEFG KVFNQCSHLT EHEHGTEEKP CKYEECSSVF ISCSSLSNQQ MILAGEKLSK
CETWYKGFNH SPNPSKHQRN EIGGKPFKCE ECDSIFKWFS DLTKHKRIHT GEKPYKCDEC
GKAYTQSSHL SEHRRIHTGE KPYQCEECGK VFRTCSSLSN HKRTHSEEKP YTCEECGNIF
KQLSDLTKHK KTHTGEKPYK CDECGKNFTQ SSNLIVHKRI HTGEKPYKCE ECGRVFMWFS
DITKHKKTHT GEKPYKCDEC GKNFTQSSNL IVHKRIHTGE KPYKCEKCGK AFTQFSHLTV
HESIHT*
speed 1.32 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: 0.999970542642947 (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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000354599
Genbank transcript ID NM_001242843
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.653C>G
cDNA.758C>G
g.19080C>G
AA changes P218R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 218
frameshift no
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 427
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      218KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    218KTFIQCSHFTERENIDTGEKPYK
Ptroglodytes  not conserved  ENSPTRG00000003194  166KTFIQCSHFTEHENIDTGEKPYK
Mmulatta  not conserved  ENSMMUG00000018698  289KTFIQCSHFTEHENIDTGEKPYR
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040305  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
76243REGIONSpacer.lost
244266ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
272294ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
290290CONFLICTP -> R (in Ref. 2; BAG53114).might get lost (downstream of altered splice site)
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1674 / 1674
position (AA) of stopcodon in wt / mu AA sequence 558 / 558
position of stopcodon in wt / mu cDNA 1779 / 1779
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 106 / 106
chromosome 11
strand -1
last intron/exon boundary 332
theoretical NMD boundary in CDS 176
length of CDS 1674
coding sequence (CDS) position 653
cDNA position
(for ins/del: last normal base / first normal base)		 758
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPAMSSH FTQDLLPEQG IQDAFPKRIL RGYGNCGLDN LYLRKDWESL
DECKLQKDYN GLNQCSSTTH SKIFQYNKYV KIFDNFSNLH RRNISNTGEK PFKCQECGKS
FQMLSFLTEH QKIHTGKKFQ KCGECGKTFI QCSHFTEPEN IDTGEKPYKC QECNNVIKTC
SVLTKNRIYA GGEHYRCEEF GKVFNQCSHL TEHEHGTEEK PCKYEECSSV FISCSSLSNQ
QMILAGEKLS KCETWYKGFN HSPNPSKHQR NEIGGKPFKC EECDSIFKWF SDLTKHKRIH
TGEKPYKCDE CGKAYTQSSH LSEHRRIHTG EKPYQCEECG KVFRTCSSLS NHKRTHSEEK
PYTCEECGNI FKQLSDLTKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EECGRVFMWF SDITKHKKTH TGEKPYKCDE CGKNFTQSSN LIVHKRIHTG EKPYKCEKCG
KAFTQFSHLT VHESIHT*
mutated AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPAMSSH FTQDLLPEQG IQDAFPKRIL RGYGNCGLDN LYLRKDWESL
DECKLQKDYN GLNQCSSTTH SKIFQYNKYV KIFDNFSNLH RRNISNTGEK PFKCQECGKS
FQMLSFLTEH QKIHTGKKFQ KCGECGKTFI QCSHFTEREN IDTGEKPYKC QECNNVIKTC
SVLTKNRIYA GGEHYRCEEF GKVFNQCSHL TEHEHGTEEK PCKYEECSSV FISCSSLSNQ
QMILAGEKLS KCETWYKGFN HSPNPSKHQR NEIGGKPFKC EECDSIFKWF SDLTKHKRIH
TGEKPYKCDE CGKAYTQSSH LSEHRRIHTG EKPYQCEECG KVFRTCSSLS NHKRTHSEEK
PYTCEECGNI FKQLSDLTKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EECGRVFMWF SDITKHKKTH TGEKPYKCDE CGKNFTQSSN LIVHKRIHTG EKPYKCEKCG
KAFTQFSHLT VHESIHT*
speed 1.17 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: 0.999970542642947 (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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000429541
Genbank transcript ID N/A
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.665C>G
cDNA.1195C>G
g.19080C>G
AA changes P222R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 222
frameshift no
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 427
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      222KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    222KTFIQCSHFTERENIDTGEKPYK
Ptroglodytes  not conserved  ENSPTRG00000003194  166KTFIQCSHFTEHENIDTGEKPYK
Mmulatta  not conserved  ENSMMUG00000018698  289KTFIQCSHFTEHENIDTGEKPYR
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040305  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
76243REGIONSpacer.lost
244266ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
272294ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
290290CONFLICTP -> R (in Ref. 2; BAG53114).might get lost (downstream of altered splice site)
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1686 / 1686
position (AA) of stopcodon in wt / mu AA sequence 562 / 562
position of stopcodon in wt / mu cDNA 2216 / 2216
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 531 / 531
chromosome 11
strand -1
last intron/exon boundary 769
theoretical NMD boundary in CDS 188
length of CDS 1686
coding sequence (CDS) position 665
cDNA position
(for ins/del: last normal base / first normal base)		 1195
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPA MSSHFTQDLL PEQGIQDAFP KRILRGYGNC GLDNLYLRKD
WESLDECKLQ KDYNGLNQCS STTHSKIFQY NKYVKIFDNF SNLHRRNISN TGEKPFKCQE
CGKSFQMLSF LTEHQKIHTG KKFQKCGECG KTFIQCSHFT EPENIDTGEK PYKCQECNNV
IKTCSVLTKN RIYAGGEHYR CEEFGKVFNQ CSHLTEHEHG TEEKPCKYEE CSSVFISCSS
LSNQQMILAG EKLSKCETWY KGFNHSPNPS KHQRNEIGGK PFKCEECDSI FKWFSDLTKH
KRIHTGEKPY KCDECGKAYT QSSHLSEHRR IHTGEKPYQC EECGKVFRTC SSLSNHKRTH
SEEKPYTCEE CGNIFKQLSD LTKHKKTHTG EKPYKCDECG KNFTQSSNLI VHKRIHTGEK
PYKCEECGRV FMWFSDITKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EKCGKAFTQF SHLTVHESIH T*
mutated AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPA MSSHFTQDLL PEQGIQDAFP KRILRGYGNC GLDNLYLRKD
WESLDECKLQ KDYNGLNQCS STTHSKIFQY NKYVKIFDNF SNLHRRNISN TGEKPFKCQE
CGKSFQMLSF LTEHQKIHTG KKFQKCGECG KTFIQCSHFT ERENIDTGEK PYKCQECNNV
IKTCSVLTKN RIYAGGEHYR CEEFGKVFNQ CSHLTEHEHG TEEKPCKYEE CSSVFISCSS
LSNQQMILAG EKLSKCETWY KGFNHSPNPS KHQRNEIGGK PFKCEECDSI FKWFSDLTKH
KRIHTGEKPY KCDECGKAYT QSSHLSEHRR IHTGEKPYQC EECGKVFRTC SSLSNHKRTH
SEEKPYTCEE CGNIFKQLSD LTKHKKTHTG EKPYKCDECG KNFTQSSNLI VHKRIHTGEK
PYKCEECGRV FMWFSDITKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EKCGKAFTQF SHLTVHESIH T*
speed 1.30 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: 0.999970542642947 (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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000343338
Genbank transcript ID N/A
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.665C>G
cDNA.665C>G
g.19080C>G
AA changes P222R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 222
frameshift no
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 427
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      222KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    222KTFIQCSHFTERENIDTGEKPYK
Ptroglodytes  not conserved  ENSPTRG00000003194  166KTFIQCSHFTEHENIDTGEKPYK
Mmulatta  not conserved  ENSMMUG00000018698  289KTFIQCSHFTEHENIDTGEKPYR
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040305  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
76243REGIONSpacer.lost
244266ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
272294ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
290290CONFLICTP -> R (in Ref. 2; BAG53114).might get lost (downstream of altered splice site)
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1686 / 1686
position (AA) of stopcodon in wt / mu AA sequence 562 / 562
position of stopcodon in wt / mu cDNA 1686 / 1686
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 11
strand -1
last intron/exon boundary 239
theoretical NMD boundary in CDS 188
length of CDS 1686
coding sequence (CDS) position 665
cDNA position
(for ins/del: last normal base / first normal base)		 665
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPA MSSHFTQDLL PEQGIQDAFP KRILRGYGNC GLDNLYLRKD
WESLDECKLQ KDYNGLNQCS STTHSKIFQY NKYVKIFDNF SNLHRRNISN TGEKPFKCQE
CGKSFQMLSF LTEHQKIHTG KKFQKCGECG KTFIQCSHFT EPENIDTGEK PYKCQECNNV
IKTCSVLTKN RIYAGGEHYR CEEFGKVFNQ CSHLTEHEHG TEEKPCKYEE CSSVFISCSS
LSNQQMILAG EKLSKCETWY KGFNHSPNPS KHQRNEIGGK PFKCEECDSI FKWFSDLTKH
KRIHTGEKPY KCDECGKAYT QSSHLSEHRR IHTGEKPYQC EECGKVFRTC SSLSNHKRTH
SEEKPYTCEE CGNIFKQLSD LTKHKKTHTG EKPYKCDECG KNFTQSSNLI VHKRIHTGEK
PYKCEECGRV FMWFSDITKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EKCGKAFTQF SHLTVHESIH T*
mutated AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPA MSSHFTQDLL PEQGIQDAFP KRILRGYGNC GLDNLYLRKD
WESLDECKLQ KDYNGLNQCS STTHSKIFQY NKYVKIFDNF SNLHRRNISN TGEKPFKCQE
CGKSFQMLSF LTEHQKIHTG KKFQKCGECG KTFIQCSHFT ERENIDTGEK PYKCQECNNV
IKTCSVLTKN RIYAGGEHYR CEEFGKVFNQ CSHLTEHEHG TEEKPCKYEE CSSVFISCSS
LSNQQMILAG EKLSKCETWY KGFNHSPNPS KHQRNEIGGK PFKCEECDSI FKWFSDLTKH
KRIHTGEKPY KCDECGKAYT QSSHLSEHRR IHTGEKPYQC EECGKVFRTC SSLSNHKRTH
SEEKPYTCEE CGNIFKQLSD LTKHKKTHTG EKPYKCDECG KNFTQSSNLI VHKRIHTGEK
PYKCEECGRV FMWFSDITKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EKCGKAFTQF SHLTVHESIH T*
speed 1.19 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: 1.09187865938863e-11 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000528796
Genbank transcript ID N/A
UniProt peptide O14628
alteration type single base exchange
alteration region intron
DNA changes g.19080C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 10836
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
76243REGIONSpacer.might get lost (downstream of altered splice site)
244266ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
272294ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
290290CONFLICTP -> R (in Ref. 2; BAG53114).might get lost (downstream of altered splice site)
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
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 94 / 94
chromosome 11
strand -1
last intron/exon boundary 320
theoretical NMD boundary in CDS 176
length of CDS 240
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)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPGQHG*
mutated AA sequence N/A
speed 1.01 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: without_aae, prob: 1.09187865938863e-11 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000438262
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.876C>G
g.19080C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 239) splice site change occurs after stopcodon (at aa 240)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 143
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 155 / 155
chromosome 11
strand -1
last intron/exon boundary 450
theoretical NMD boundary in CDS 245
length of CDS 273
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 876
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPG IFFVVTMEII *
mutated AA sequence N/A
speed 1.21 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