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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000301093
Querying Taster for transcript #2: ENST00000540331
Querying Taster for transcript #3: ENST00000391785
MT speed 0 s - this script 4.832764 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF701polymorphism_automatic6.52033982362354e-13simple_aaeaffectedT337Ksingle base exchangers373554show file
ZNF701polymorphism_automatic6.52033982362354e-13simple_aaeaffectedT337Ksingle base exchangers373554show file
ZNF701polymorphism_automatic6.52033982362354e-13simple_aaeaffectedT271Ksingle base exchangers373554show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999348 (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) chr19:53086124C>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF701
Ensembl transcript ID ENST00000301093
Genbank transcript ID N/A
UniProt peptide Q9NV72
alteration type single base exchange
alteration region CDS
DNA changes c.1010C>A
cDNA.1045C>A
g.12599C>A
AA changes T337K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 337
frameshift no
known variant Reference ID: rs373554
databasehomozygous (A/A)heterozygousallele carriers
1000G107110832154
ExAC29780-267932987
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)-0.0910.018
-0.3240.007
(flanking)-1.0070.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12599wt: 0.4798 / mu: 0.5146 (marginal change - not scored)wt: CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
mu: CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA		 acac|GTGT
Donor increased12603wt: 0.37 / mu: 0.81wt: ACGTGTAATGAGTGT
mu: AAGTGTAATGAGTGT		 GTGT|aatg
Donor increased12594wt: 0.87 / mu: 0.98wt: AATCCTTACACGTGT
mu: AATCCTTACAAGTGT		 TCCT|taca
Donor marginally increased12596wt: 0.7605 / mu: 0.8009 (marginal change - not scored)wt: TCCTTACACGTGTAA
mu: TCCTTACAAGTGTAA		 CTTA|cacg
Donor marginally increased12601wt: 0.9459 / mu: 0.9622 (marginal change - not scored)wt: ACACGTGTAATGAGT
mu: ACAAGTGTAATGAGT		 ACGT|gtaa
Donor increased12599wt: 0.42 / mu: 0.68wt: TTACACGTGTAATGA
mu: TTACAAGTGTAATGA		 ACAC|gtgt
distance from splice site 670
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      337CHRCHTGENPYTCNECGKTFSHNS
mutated  not conserved    337CHRCHTGENPYKCNECGKTFSHN
Ptroglodytes  no homologue    
Mmulatta  no homologue    
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 
326348ZN_FINGC2H2-type 3.lost
354376ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
382404ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1596 / 1596
position (AA) of stopcodon in wt / mu AA sequence 532 / 532
position of stopcodon in wt / mu cDNA 1631 / 1631
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 36 / 36
chromosome 19
strand 1
last intron/exon boundary 376
theoretical NMD boundary in CDS 290
length of CDS 1596
coding sequence (CDS) position 1010
cDNA position
(for ins/del: last normal base / first normal base)		 1045
gDNA position
(for ins/del: last normal base / first normal base)		 12599
chromosomal position
(for ins/del: last normal base / first normal base)		 53086124
original gDNA sequence snippet CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
altered gDNA sequence snippet CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA
original cDNA sequence snippet CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
altered cDNA sequence snippet CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA
wildtype AA sequence MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*
mutated AA sequence MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYKCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*
speed 1.34 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: 0.999999999999348 (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) chr19:53086124C>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF701
Ensembl transcript ID ENST00000540331
Genbank transcript ID NM_001172655
UniProt peptide Q9NV72
alteration type single base exchange
alteration region CDS
DNA changes c.1010C>A
cDNA.1235C>A
g.12599C>A
AA changes T337K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 337
frameshift no
known variant Reference ID: rs373554
databasehomozygous (A/A)heterozygousallele carriers
1000G107110832154
ExAC29780-267932987
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)-0.0910.018
-0.3240.007
(flanking)-1.0070.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12599wt: 0.4798 / mu: 0.5146 (marginal change - not scored)wt: CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
mu: CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA		 acac|GTGT
Donor increased12603wt: 0.37 / mu: 0.81wt: ACGTGTAATGAGTGT
mu: AAGTGTAATGAGTGT		 GTGT|aatg
Donor increased12594wt: 0.87 / mu: 0.98wt: AATCCTTACACGTGT
mu: AATCCTTACAAGTGT		 TCCT|taca
Donor marginally increased12596wt: 0.7605 / mu: 0.8009 (marginal change - not scored)wt: TCCTTACACGTGTAA
mu: TCCTTACAAGTGTAA		 CTTA|cacg
Donor marginally increased12601wt: 0.9459 / mu: 0.9622 (marginal change - not scored)wt: ACACGTGTAATGAGT
mu: ACAAGTGTAATGAGT		 ACGT|gtaa
Donor increased12599wt: 0.42 / mu: 0.68wt: TTACACGTGTAATGA
mu: TTACAAGTGTAATGA		 ACAC|gtgt
distance from splice site 670
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      337CHRCHTGENPYTCNECGKTFSHNS
mutated  not conserved    337CHRCHTGENPYKCNECGKTFSHN
Ptroglodytes  no homologue    
Mmulatta  no homologue    
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 
326348ZN_FINGC2H2-type 3.lost
354376ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
382404ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1596 / 1596
position (AA) of stopcodon in wt / mu AA sequence 532 / 532
position of stopcodon in wt / mu cDNA 1821 / 1821
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 226 / 226
chromosome 19
strand 1
last intron/exon boundary 566
theoretical NMD boundary in CDS 290
length of CDS 1596
coding sequence (CDS) position 1010
cDNA position
(for ins/del: last normal base / first normal base)		 1235
gDNA position
(for ins/del: last normal base / first normal base)		 12599
chromosomal position
(for ins/del: last normal base / first normal base)		 53086124
original gDNA sequence snippet CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
altered gDNA sequence snippet CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA
original cDNA sequence snippet CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
altered cDNA sequence snippet CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA
wildtype AA sequence MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*
mutated AA sequence MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYKCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*
speed 1.43 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: 0.999999999999348 (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) chr19:53086124C>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF701
Ensembl transcript ID ENST00000391785
Genbank transcript ID NM_018260
UniProt peptide Q9NV72
alteration type single base exchange
alteration region CDS
DNA changes c.812C>A
cDNA.941C>A
g.12599C>A
AA changes T271K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs373554
databasehomozygous (A/A)heterozygousallele carriers
1000G107110832154
ExAC29780-267932987
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)-0.0910.018
-0.3240.007
(flanking)-1.0070.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12599wt: 0.4798 / mu: 0.5146 (marginal change - not scored)wt: CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
mu: CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA		 acac|GTGT
Donor increased12603wt: 0.37 / mu: 0.81wt: ACGTGTAATGAGTGT
mu: AAGTGTAATGAGTGT		 GTGT|aatg
Donor increased12594wt: 0.87 / mu: 0.98wt: AATCCTTACACGTGT
mu: AATCCTTACAAGTGT		 TCCT|taca
Donor marginally increased12596wt: 0.7605 / mu: 0.8009 (marginal change - not scored)wt: TCCTTACACGTGTAA
mu: TCCTTACAAGTGTAA		 CTTA|cacg
Donor marginally increased12601wt: 0.9459 / mu: 0.9622 (marginal change - not scored)wt: ACACGTGTAATGAGT
mu: ACAAGTGTAATGAGT		 ACGT|gtaa
Donor increased12599wt: 0.42 / mu: 0.68wt: TTACACGTGTAATGA
mu: TTACAAGTGTAATGA		 ACAC|gtgt
distance from splice site 670
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271CHRCHTGENPYTCNECGKTFSHNS
mutated  not conserved    271CHRCHTGENPYKCNECGKTFSHN
Ptroglodytes  no homologue    
Mmulatta  no homologue    
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 
270292ZN_FINGC2H2-type 1.lost
298320ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
326348ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
354376ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
382404ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1398 / 1398
position (AA) of stopcodon in wt / mu AA sequence 466 / 466
position of stopcodon in wt / mu cDNA 1527 / 1527
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 130 / 130
chromosome 19
strand 1
last intron/exon boundary 272
theoretical NMD boundary in CDS 92
length of CDS 1398
coding sequence (CDS) position 812
cDNA position
(for ins/del: last normal base / first normal base)		 941
gDNA position
(for ins/del: last normal base / first normal base)		 12599
chromosomal position
(for ins/del: last normal base / first normal base)		 53086124
original gDNA sequence snippet CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
altered gDNA sequence snippet CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA
original cDNA sequence snippet CACTGGTGAGAATCCTTACACGTGTAATGAGTGTGGCAAGA
altered cDNA sequence snippet CACTGGTGAGAATCCTTACAAGTGTAATGAGTGTGGCAAGA
wildtype AA sequence MALLQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDTS SKCMMKMFSS
TGQGNTEVVH TGTLQIHASH HIGDTCFQEI EKDIHDFVFQ WQENETNGHE ALMTKTKKLM
SSTERHDQRH AGNKPIKNEL GSSFHSHLPE VHIFHPEGKI GNQVEKAIND AFSVSASQRI
SCRPKTRISN KYRNNFLQSS LLTQKREVHT REKSFQRNES GKAFNGSSLL KKHQIIHLGD
KQYKCDVCGK DFHQKRYLAC HRCHTGENPY TCNECGKTFS HNSALLVHKA IHTGEKPYKC
NECGKVFNQQ SNLARHHRVH TGEKPYKCEE CDKVFSRKSH LERHRRIHTG EKPYKCKVCD
KAFRRDSHLA QHTVIHTGEK PYKCNECGKT FVQNSSLVMH KVIHTGEKRY KCNECGKVFN
HKSNLACHRR LHTGEKPYKC NECGKVFNRK SNLERHHRLH TGKKS*
mutated AA sequence MALLQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDTS SKCMMKMFSS
TGQGNTEVVH TGTLQIHASH HIGDTCFQEI EKDIHDFVFQ WQENETNGHE ALMTKTKKLM
SSTERHDQRH AGNKPIKNEL GSSFHSHLPE VHIFHPEGKI GNQVEKAIND AFSVSASQRI
SCRPKTRISN KYRNNFLQSS LLTQKREVHT REKSFQRNES GKAFNGSSLL KKHQIIHLGD
KQYKCDVCGK DFHQKRYLAC HRCHTGENPY KCNECGKTFS HNSALLVHKA IHTGEKPYKC
NECGKVFNQQ SNLARHHRVH TGEKPYKCEE CDKVFSRKSH LERHRRIHTG EKPYKCKVCD
KAFRRDSHLA QHTVIHTGEK PYKCNECGKT FVQNSSLVMH KVIHTGEKRY KCNECGKVFN
HKSNLACHRR LHTGEKPYKC NECGKVFNRK SNLERHHRLH TGKKS*
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

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