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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000592533
Querying Taster for transcript #2: ENST00000590751
Querying Taster for transcript #3: ENST00000593133
Querying Taster for transcript #4: ENST00000451802
Querying Taster for transcript #5: ENST00000358744
Querying Taster for transcript #6: ENST00000328550
MT speed 0 s - this script 5.993111 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF571polymorphism_automatic1.42038986794546e-06simple_aaeQ189Hsingle base exchangers8111790show file
ZNF571polymorphism_automatic1.42038986794546e-06simple_aaeQ189Hsingle base exchangers8111790show file
ZNF571polymorphism_automatic1.42038986794546e-06simple_aaeQ189Hsingle base exchangers8111790show file
ZNF571polymorphism_automatic1.42038986794546e-06simple_aaeQ189Hsingle base exchangers8111790show file
ZNF571polymorphism_automatic0.999966997334981without_aaesingle base exchangers8111790show file
ZNF540polymorphism_automatic0.999967732315911without_aaeaffectedsingle base exchangers8111790show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998579610132 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:38056763C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF571
Ensembl transcript ID ENST00000451802
Genbank transcript ID N/A
UniProt peptide Q7Z3V5
alteration type single base exchange
alteration region CDS
DNA changes c.567G>C
cDNA.668G>C
g.28911G>C
AA changes Q189H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 189
frameshift no
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
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)0.4330.004
-1.7530.003
(flanking)3.6850.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28914wt: 0.9612 / mu: 0.9651 (marginal change - not scored)wt: CAGACTGGTGAGAAA
mu: CACACTGGTGAGAAA		 GACT|ggtg
distance from splice site 431
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      189KKPSYIQHQRIQTGEKPYECMECG
mutated  not conserved    189SYIQHQRIHTGEKPYECMEC
Ptroglodytes  all identical  ENSPTRG00000010913  189SYIQHQRIQTGEKPYECMEC
Mmulatta  all identical  ENSMMUG00000011091  189NYMQHQRIQTGEKPYECMEC
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 
164189ZN_FINGC2H2-type 2; atypical.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1830 / 1830
position (AA) of stopcodon in wt / mu AA sequence 610 / 610
position of stopcodon in wt / mu cDNA 1931 / 1931
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 102 / 102
chromosome 19
strand -1
last intron/exon boundary 238
theoretical NMD boundary in CDS 86
length of CDS 1830
coding sequence (CDS) position 567
cDNA position
(for ins/del: last normal base / first normal base)		 668
gDNA position
(for ins/del: last normal base / first normal base)		 28911
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered gDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
original cDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered cDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
wildtype AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIQT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
mutated AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIHT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
speed 1.36 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: 0.999998579610132 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:38056763C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF571
Ensembl transcript ID ENST00000593133
Genbank transcript ID N/A
UniProt peptide Q7Z3V5
alteration type single base exchange
alteration region CDS
DNA changes c.567G>C
cDNA.1296G>C
g.28911G>C
AA changes Q189H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 189
frameshift no
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
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)0.4330.004
-1.7530.003
(flanking)3.6850.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28914wt: 0.9612 / mu: 0.9651 (marginal change - not scored)wt: CAGACTGGTGAGAAA
mu: CACACTGGTGAGAAA		 GACT|ggtg
distance from splice site 431
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      189KKPSYIQHQRIQTGEKPYECMECG
mutated  not conserved    189SYIQHQRIHTGEKPYECMEC
Ptroglodytes  all identical  ENSPTRG00000010913  189SYIQHQRIQTGEKPYECMEC
Mmulatta  all identical  ENSMMUG00000011091  189NYMQHQRIQTGEKPYECMEC
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 
164189ZN_FINGC2H2-type 2; atypical.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1830 / 1830
position (AA) of stopcodon in wt / mu AA sequence 610 / 610
position of stopcodon in wt / mu cDNA 2559 / 2559
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 730 / 730
chromosome 19
strand -1
last intron/exon boundary 866
theoretical NMD boundary in CDS 86
length of CDS 1830
coding sequence (CDS) position 567
cDNA position
(for ins/del: last normal base / first normal base)		 1296
gDNA position
(for ins/del: last normal base / first normal base)		 28911
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered gDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
original cDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered cDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
wildtype AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIQT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
mutated AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIHT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
speed 1.51 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: 0.999998579610132 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:38056763C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF571
Ensembl transcript ID ENST00000358744
Genbank transcript ID N/A
UniProt peptide Q7Z3V5
alteration type single base exchange
alteration region CDS
DNA changes c.567G>C
cDNA.757G>C
g.28911G>C
AA changes Q189H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 189
frameshift no
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
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)0.4330.004
-1.7530.003
(flanking)3.6850.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28914wt: 0.9612 / mu: 0.9651 (marginal change - not scored)wt: CAGACTGGTGAGAAA
mu: CACACTGGTGAGAAA		 GACT|ggtg
distance from splice site 431
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      189KKPSYIQHQRIQTGEKPYECMECG
mutated  not conserved    189SYIQHQRIHTGEKPYECMEC
Ptroglodytes  all identical  ENSPTRG00000010913  189SYIQHQRIQTGEKPYECMEC
Mmulatta  all identical  ENSMMUG00000011091  189NYMQHQRIQTGEKPYECMEC
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 
164189ZN_FINGC2H2-type 2; atypical.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1830 / 1830
position (AA) of stopcodon in wt / mu AA sequence 610 / 610
position of stopcodon in wt / mu cDNA 2020 / 2020
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 191 / 191
chromosome 19
strand -1
last intron/exon boundary 327
theoretical NMD boundary in CDS 86
length of CDS 1830
coding sequence (CDS) position 567
cDNA position
(for ins/del: last normal base / first normal base)		 757
gDNA position
(for ins/del: last normal base / first normal base)		 28911
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered gDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
original cDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered cDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
wildtype AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIQT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
mutated AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIHT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
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: 0.999998579610132 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:38056763C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF571
Ensembl transcript ID ENST00000328550
Genbank transcript ID NM_016536
UniProt peptide Q7Z3V5
alteration type single base exchange
alteration region CDS
DNA changes c.567G>C
cDNA.667G>C
g.28911G>C
AA changes Q189H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 189
frameshift no
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
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)0.4330.004
-1.7530.003
(flanking)3.6850.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28914wt: 0.9612 / mu: 0.9651 (marginal change - not scored)wt: CAGACTGGTGAGAAA
mu: CACACTGGTGAGAAA		 GACT|ggtg
distance from splice site 431
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      189KKPSYIQHQRIQTGEKPYECMECG
mutated  not conserved    189SYIQHQRIHTGEKPYECMEC
Ptroglodytes  all identical  ENSPTRG00000010913  189SYIQHQRIQTGEKPYECMEC
Mmulatta  all identical  ENSMMUG00000011091  189NYMQHQRIQTGEKPYECMEC
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 
164189ZN_FINGC2H2-type 2; atypical.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1830 / 1830
position (AA) of stopcodon in wt / mu AA sequence 610 / 610
position of stopcodon in wt / mu cDNA 1930 / 1930
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 101 / 101
chromosome 19
strand -1
last intron/exon boundary 2724
theoretical NMD boundary in CDS 2573
length of CDS 1830
coding sequence (CDS) position 567
cDNA position
(for ins/del: last normal base / first normal base)		 667
gDNA position
(for ins/del: last normal base / first normal base)		 28911
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered gDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
original cDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered cDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
wildtype AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIQT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
mutated AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIHT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
speed 0.44 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 3.30026650189241e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:38056763C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF571
Ensembl transcript ID ENST00000590751
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.28911G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
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)0.4330.004
-1.7530.003
(flanking)3.6850.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28914wt: 0.9612 / mu: 0.9651 (marginal change - not scored)wt: CAGACTGGTGAGAAA
mu: CACACTGGTGAGAAA		 GACT|ggtg
distance from splice site 9700
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 185 / 185
chromosome 19
strand -1
last intron/exon boundary 321
theoretical NMD boundary in CDS 86
length of CDS 429
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)		 28911
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered gDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLEPART REEQHNLPVP
KAGSVNLAAG FGHSRSQTGC GSSKGAEKGL QNVDFYLCPG NHPDTSCRDT YQFFCPDWTC
VTLATYSGGS TRSSFHNSCF SS*
mutated AA sequence N/A
speed 0.41 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: 3.22676840887282e-05 (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) chr19:38056763C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF540
Ensembl transcript ID ENST00000592533
Genbank transcript ID NM_152606
UniProt peptide Q8NDQ6
alteration type single base exchange
alteration region intron
DNA changes g.14456C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
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)0.4330.004
-1.7530.003
(flanking)3.6850.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -23) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased14455wt: 0.55 / mu: 0.98wt: ACCAGTCTGAATTCT
mu: ACCAGTGTGAATTCT		 CAGT|ctga
Donor gained144500.64mu: TTCTCACCAGTGTGA CTCA|ccag
distance from splice site 14196
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
677DOMAINKRAB.might get lost (downstream of altered splice site)
127127CONFLICTE -> G (in Ref. 2; CAD97942).might get lost (downstream of altered splice site)
140140MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
187209ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
215237ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
243265ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
271293ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
299321ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
327349ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
355377ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
383405ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
411433ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
439461ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
467489ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
495517ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
523545ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
551573ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
579601ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
607629ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
635657ZN_FINGC2H2-type 17.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 333 / 333
chromosome 19
strand 1
last intron/exon boundary 565
theoretical NMD boundary in CDS 182
length of CDS 1983
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)		 14456
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet TCATAAGGTTTCTCACCAGTCTGAATTCTCTGATGTTGAAT
altered gDNA sequence snippet TCATAAGGTTTCTCACCAGTGTGAATTCTCTGATGTTGAAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAHALVTFRD VAIDFSQKEW ECLDTTQRKL YRDVMLENYN NLVSLGYSGS KPDVITLLEQ
GKEPCVVARD VTGRQCPGLL SRHKTKKLSS EKDIHEISLS KESIIEKSKT LRLKGSIFRN
EWQNKSEFEG QQGLKERSIS QKKIVSKKMS TDRKRPSFTL NQRIHNSEKS CDSHLVQHGK
IDSDVKHDCK ECGSTFNNVY QLTLHQKIHT GEKSCKCEKC GKVFSHSYQL TLHQRFHTGE
KPYECQECGK TFTLYPQLNR HQKIHTGKKP YMCKKCDKGF FSRLELTQHK RIHTGKKSYE
CKECGKVFQL IFYFKEHERI HTGKKPYECK ECGKAFSVCG QLTRHQKIHT GVKPYECKEC
GKTFRLSFYL TEHRRTHAGK KPYECKECGK SFNVRGQLNR HKTIHTGIKP FACKVCEKAF
SYSGDLRVHS RIHTGEKPYE CKECGKAFML RSVLTEHQRL HTGVKPYECK ECGKTFRVRS
QISLHKKIHT DVKPYKCVRC GKTFRFGFYL TEHQRIHTGE KPYKCKECGK AFIRRGNLKE
HLKIHSGLKP YDCKECGKSF SRRGQFTEHQ KIHTGVKPYK CKECGKAFSR SVDLRIHQRI
HTGEKPYECK QCGKAFRLNS HLTEHQRIHT GEKPYECKVC RKAFRQYSHL YQHQKTHNVI
*
mutated AA sequence N/A
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

Problems