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: ENST00000524372
Querying Taster for transcript #2: ENST00000442920
Querying Taster for transcript #3: ENST00000347466
Querying Taster for transcript #4: ENST00000415379
Querying Taster for transcript #5: ENST00000221735
Querying Taster for transcript #6: ENST00000424930
Querying Taster for transcript #7: ENST00000426954
Querying Taster for transcript #8: ENST00000354197
MT speed 7.32 s - this script 6.165174 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF419polymorphism_automatic1.31660238267273e-11simple_aaeaffectedE109Qsingle base exchangers2074076show file
ZNF419polymorphism_automatic1.31660238267273e-11simple_aaeaffectedE141Qsingle base exchangers2074076show file
ZNF419polymorphism_automatic1.31660238267273e-11simple_aaeaffectedE142Qsingle base exchangers2074076show file
ZNF419polymorphism_automatic1.31660238267273e-11simple_aaeaffectedE128Qsingle base exchangers2074076show file
ZNF419polymorphism_automatic1.31660238267273e-11simple_aaeaffectedE129Qsingle base exchangers2074076show file
ZNF419polymorphism_automatic1.31660238267273e-11simple_aaeaffectedE129Qsingle base exchangers2074076show file
ZNF419polymorphism_automatic2.18639550908506e-11simple_aaeaffectedE95Qsingle base exchangers2074076show file

some transcripts had annotation problems and are not shown

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986834 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000347466
Genbank transcript ID NM_001098494
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.325G>C
cDNA.535G>C
g.5268G>C
AA changes E109Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
109
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT
 AAGA|gggc
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC
 AGAG|ggca
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC
 GAGG|gcag
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      109QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    109QHCGEKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1437 / 1437
position (AA) of stopcodon in wt / mu AA sequence 479 / 479
position of stopcodon in wt / mu cDNA 1647 / 1647
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 211 / 211
chromosome 19
strand 1
last intron/exon boundary 413
theoretical NMD boundary in CDS 152
length of CDS 1437
coding sequence (CDS) position 325
cDNA position
(for ins/del: last normal base / first normal base)
535
gDNA position
(for ins/del: last normal base / first normal base)
5268
chromosomal position
(for ins/del: last normal base / first normal base)
58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QVPVAADLLT DHEEQGYVTF EDVAVYFSQE EWRLLDDAQR LLYRNVMLEN
FTLLASLGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC GEKPLKRQEG RVPVLRSCKV
HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS REAFHAGKRH YKCSECGKAF
GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV HTGERPYGCS NCGKSFSRNA
HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV RPYECSECGK LFSFNSSLMK
HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK CSDCGKFFTQ CSSLMQHQKV
HTGEKPFKCN ECGRFFRENS TLVRHQRVHT GAKPYECREC GKFFSQSSTL MQHRKVHIGE
KPFKCNECGR LFRENSSLVK HQRVHTGAKP YECRECGKFF RHNSSLFKHR RIHTGEMQ*
mutated AA sequence MAAAALRDPA QVPVAADLLT DHEEQGYVTF EDVAVYFSQE EWRLLDDAQR LLYRNVMLEN
FTLLASLGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC GEKPLKRQQG RVPVLRSCKV
HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS REAFHAGKRH YKCSECGKAF
GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV HTGERPYGCS NCGKSFSRNA
HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV RPYECSECGK LFSFNSSLMK
HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK CSDCGKFFTQ CSSLMQHQKV
HTGEKPFKCN ECGRFFRENS TLVRHQRVHT GAKPYECREC GKFFSQSSTL MQHRKVHIGE
KPFKCNECGR LFRENSSLVK HQRVHTGAKP YECRECGKFF RHNSSLFKHR RIHTGEMQ*
speed 0.54 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: 0.999999999986834 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000221735
Genbank transcript ID NM_024691
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.421G>C
cDNA.607G>C
g.5268G>C
AA changes E141Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
141
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT
 AAGA|gggc
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC
 AGAG|ggca
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC
 GAGG|gcag
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      141QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    141QHCGEKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1533 / 1533
position (AA) of stopcodon in wt / mu AA sequence 511 / 511
position of stopcodon in wt / mu cDNA 1719 / 1719
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 187 / 187
chromosome 19
strand 1
last intron/exon boundary 485
theoretical NMD boundary in CDS 248
length of CDS 1533
coding sequence (CDS) position 421
cDNA position
(for ins/del: last normal base / first normal base)
607
gDNA position
(for ins/del: last normal base / first normal base)
5268
chromosomal position
(for ins/del: last normal base / first normal base)
58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QVPVAADLLT DHEEGYVTFE DVAVYFSQEE WRLLDDAQRL LYRNVMLENF
TLLASLGLAS SKTHEITQLE SWEEPFMPAW EVVTSAIPRG CWHGAEAEEA PEQIASVGLL
SSNIQQHQKQ HCGEKPLKRQ EGRVPVLRSC KVHLSEKSLQ SREVGKALLI SSGVLKHQVT
HTGEKSHRSS KSREAFHAGK RHYKCSECGK AFGQKYLLVQ HQRLHAGKKT YECSECGKLF
RDMSNLFIHQ IVHTGERPYG CSNCGKSFSR NAHLIEHQRV HTGEKPFTCS ECGKAFRHNS
TLVQHHKIHT GVRPYECSEC GKLFSFNSSL MKHQRIHTGE RPYKCSECGK FYSHKSNLIK
HWRVHTGERP YKCSDCGKFF TQCSSLMQHQ KVHTGEKPFK CNECGRFFRE NSTLVRHQRV
HTGAKPYECR ECGKFFSQSS TLMQHRKVHI GEKPFKCNEC GRLFRENSSL VKHQRVHTGA
KPYECRECGK FFRHNSSLFK HRRIHTGEMQ *
mutated AA sequence MAAAALRDPA QVPVAADLLT DHEEGYVTFE DVAVYFSQEE WRLLDDAQRL LYRNVMLENF
TLLASLGLAS SKTHEITQLE SWEEPFMPAW EVVTSAIPRG CWHGAEAEEA PEQIASVGLL
SSNIQQHQKQ HCGEKPLKRQ QGRVPVLRSC KVHLSEKSLQ SREVGKALLI SSGVLKHQVT
HTGEKSHRSS KSREAFHAGK RHYKCSECGK AFGQKYLLVQ HQRLHAGKKT YECSECGKLF
RDMSNLFIHQ IVHTGERPYG CSNCGKSFSR NAHLIEHQRV HTGEKPFTCS ECGKAFRHNS
TLVQHHKIHT GVRPYECSEC GKLFSFNSSL MKHQRIHTGE RPYKCSECGK FYSHKSNLIK
HWRVHTGERP YKCSDCGKFF TQCSSLMQHQ KVHTGEKPFK CNECGRFFRE NSTLVRHQRV
HTGAKPYECR ECGKFFSQSS TLMQHRKVHI GEKPFKCNEC GRLFRENSSL VKHQRVHTGA
KPYECRECGK FFRHNSSLFK HRRIHTGEMQ *
speed 2.00 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986834 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000424930
Genbank transcript ID NM_001098491
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.424G>C
cDNA.664G>C
g.5268G>C
AA changes E142Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
142
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT
 AAGA|gggc
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC
 AGAG|ggca
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC
 GAGG|gcag
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      142QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    142QHCGEKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1536 / 1536
position (AA) of stopcodon in wt / mu AA sequence 512 / 512
position of stopcodon in wt / mu cDNA 1776 / 1776
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 241 / 241
chromosome 19
strand 1
last intron/exon boundary 542
theoretical NMD boundary in CDS 251
length of CDS 1536
coding sequence (CDS) position 424
cDNA position
(for ins/del: last normal base / first normal base)
664
gDNA position
(for ins/del: last normal base / first normal base)
5268
chromosomal position
(for ins/del: last normal base / first normal base)
58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QVPVAADLLT DHEEQGYVTF EDVAVYFSQE EWRLLDDAQR LLYRNVMLEN
FTLLASLGLA SSKTHEITQL ESWEEPFMPA WEVVTSAIPR GCWHGAEAEE APEQIASVGL
LSSNIQQHQK QHCGEKPLKR QEGRVPVLRS CKVHLSEKSL QSREVGKALL ISSGVLKHQV
THTGEKSHRS SKSREAFHAG KRHYKCSECG KAFGQKYLLV QHQRLHAGKK TYECSECGKL
FRDMSNLFIH QIVHTGERPY GCSNCGKSFS RNAHLIEHQR VHTGEKPFTC SECGKAFRHN
STLVQHHKIH TGVRPYECSE CGKLFSFNSS LMKHQRIHTG ERPYKCSECG KFYSHKSNLI
KHWRVHTGER PYKCSDCGKF FTQCSSLMQH QKVHTGEKPF KCNECGRFFR ENSTLVRHQR
VHTGAKPYEC RECGKFFSQS STLMQHRKVH IGEKPFKCNE CGRLFRENSS LVKHQRVHTG
AKPYECRECG KFFRHNSSLF KHRRIHTGEM Q*
mutated AA sequence MAAAALRDPA QVPVAADLLT DHEEQGYVTF EDVAVYFSQE EWRLLDDAQR LLYRNVMLEN
FTLLASLGLA SSKTHEITQL ESWEEPFMPA WEVVTSAIPR GCWHGAEAEE APEQIASVGL
LSSNIQQHQK QHCGEKPLKR QQGRVPVLRS CKVHLSEKSL QSREVGKALL ISSGVLKHQV
THTGEKSHRS SKSREAFHAG KRHYKCSECG KAFGQKYLLV QHQRLHAGKK TYECSECGKL
FRDMSNLFIH QIVHTGERPY GCSNCGKSFS RNAHLIEHQR VHTGEKPFTC SECGKAFRHN
STLVQHHKIH TGVRPYECSE CGKLFSFNSS LMKHQRIHTG ERPYKCSECG KFYSHKSNLI
KHWRVHTGER PYKCSDCGKF FTQCSSLMQH QKVHTGEKPF KCNECGRFFR ENSTLVRHQR
VHTGAKPYEC RECGKFFSQS STLMQHRKVH IGEKPFKCNE CGRLFRENSS LVKHQRVHTG
AKPYECRECG KFFRHNSSLF KHRRIHTGEM Q*
speed 0.46 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: 0.999999999986834 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000442920
Genbank transcript ID NM_001098493
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.382G>C
cDNA.615G>C
g.5268G>C
AA changes E128Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
128
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT
 AAGA|gggc
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC
 AGAG|ggca
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC
 GAGG|gcag
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      128QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    128EKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1494 / 1494
position (AA) of stopcodon in wt / mu AA sequence 498 / 498
position of stopcodon in wt / mu cDNA 1727 / 1727
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 234 / 234
chromosome 19
strand 1
last intron/exon boundary 493
theoretical NMD boundary in CDS 209
length of CDS 1494
coding sequence (CDS) position 382
cDNA position
(for ins/del: last normal base / first normal base)
615
gDNA position
(for ins/del: last normal base / first normal base)
5268
chromosomal position
(for ins/del: last normal base / first normal base)
58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QGYVTFEDVA VYFSQEEWRL LDDAQRLLYR NVMLENFTLL ASLGLASSKT
HEITQLESWE EPFMPAWEVV TSAIPRGCWH GAEAEEAPEQ IASVGLLSSN IQQHQKQHCG
EKPLKRQEGR VPVLRSCKVH LSEKSLQSRE VGKALLISSG VLKHQVTHTG EKSHRSSKSR
EAFHAGKRHY KCSECGKAFG QKYLLVQHQR LHAGKKTYEC SECGKLFRDM SNLFIHQIVH
TGERPYGCSN CGKSFSRNAH LIEHQRVHTG EKPFTCSECG KAFRHNSTLV QHHKIHTGVR
PYECSECGKL FSFNSSLMKH QRIHTGERPY KCSECGKFYS HKSNLIKHWR VHTGERPYKC
SDCGKFFTQC SSLMQHQKVH TGEKPFKCNE CGRFFRENST LVRHQRVHTG AKPYECRECG
KFFSQSSTLM QHRKVHIGEK PFKCNECGRL FRENSSLVKH QRVHTGAKPY ECRECGKFFR
HNSSLFKHRR IHTGEMQ*
mutated AA sequence MAAAALRDPA QGYVTFEDVA VYFSQEEWRL LDDAQRLLYR NVMLENFTLL ASLGLASSKT
HEITQLESWE EPFMPAWEVV TSAIPRGCWH GAEAEEAPEQ IASVGLLSSN IQQHQKQHCG
EKPLKRQQGR VPVLRSCKVH LSEKSLQSRE VGKALLISSG VLKHQVTHTG EKSHRSSKSR
EAFHAGKRHY KCSECGKAFG QKYLLVQHQR LHAGKKTYEC SECGKLFRDM SNLFIHQIVH
TGERPYGCSN CGKSFSRNAH LIEHQRVHTG EKPFTCSECG KAFRHNSTLV QHHKIHTGVR
PYECSECGKL FSFNSSLMKH QRIHTGERPY KCSECGKFYS HKSNLIKHWR VHTGERPYKC
SDCGKFFTQC SSLMQHQKVH TGEKPFKCNE CGRFFRENST LVRHQRVHTG AKPYECRECG
KFFSQSSTLM QHRKVHIGEK PFKCNECGRL FRENSSLVKH QRVHTGAKPY ECRECGKFFR
HNSSLFKHRR IHTGEMQ*
speed 2.01 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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986834 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000426954
Genbank transcript ID NM_001098492
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.385G>C
cDNA.625G>C
g.5268G>C
AA changes E129Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
129
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT
 AAGA|gggc
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC
 AGAG|ggca
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC
 GAGG|gcag
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      129QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    129GEKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1737 / 1737
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 241 / 241
chromosome 19
strand 1
last intron/exon boundary 503
theoretical NMD boundary in CDS 212
length of CDS 1497
coding sequence (CDS) position 385
cDNA position
(for ins/del: last normal base / first normal base)
625
gDNA position
(for ins/del: last normal base / first normal base)
5268
chromosomal position
(for ins/del: last normal base / first normal base)
58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QQGYVTFEDV AVYFSQEEWR LLDDAQRLLY RNVMLENFTL LASLGLASSK
THEITQLESW EEPFMPAWEV VTSAIPRGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC
GEKPLKRQEG RVPVLRSCKV HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS
REAFHAGKRH YKCSECGKAF GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV
HTGERPYGCS NCGKSFSRNA HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV
RPYECSECGK LFSFNSSLMK HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK
CSDCGKFFTQ CSSLMQHQKV HTGEKPFKCN ECGRFFRENS TLVRHQRVHT GAKPYECREC
GKFFSQSSTL MQHRKVHIGE KPFKCNECGR LFRENSSLVK HQRVHTGAKP YECRECGKFF
RHNSSLFKHR RIHTGEMQ*
mutated AA sequence MAAAALRDPA QQGYVTFEDV AVYFSQEEWR LLDDAQRLLY RNVMLENFTL LASLGLASSK
THEITQLESW EEPFMPAWEV VTSAIPRGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC
GEKPLKRQQG RVPVLRSCKV HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS
REAFHAGKRH YKCSECGKAF GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV
HTGERPYGCS NCGKSFSRNA HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV
RPYECSECGK LFSFNSSLMK HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK
CSDCGKFFTQ CSSLMQHQKV HTGEKPFKCN ECGRFFRENS TLVRHQRVHT GAKPYECREC
GKFFSQSSTL MQHRKVHIGE KPFKCNECGR LFRENSSLVK HQRVHTGAKP YECRECGKFF
RHNSSLFKHR RIHTGEMQ*
speed 0.35 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: 0.999999999986834 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000354197
Genbank transcript ID N/A
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.385G>C
cDNA.625G>C
g.5268G>C
AA changes E129Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
129
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT
 AAGA|gggc
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC
 AGAG|ggca
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC
 GAGG|gcag
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      129QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    129GEKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1329 / 1329
position (AA) of stopcodon in wt / mu AA sequence 443 / 443
position of stopcodon in wt / mu cDNA 1569 / 1569
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 241 / 241
chromosome 19
strand 1
last intron/exon boundary 1431
theoretical NMD boundary in CDS 1140
length of CDS 1329
coding sequence (CDS) position 385
cDNA position
(for ins/del: last normal base / first normal base)
625
gDNA position
(for ins/del: last normal base / first normal base)
5268
chromosomal position
(for ins/del: last normal base / first normal base)
58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QQGYVTFEDV AVYFSQEEWR LLDDAQRLLY RNVMLENFTL LASLGLASSK
THEITQLESW EEPFMPAWEV VTSAIPRGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC
GEKPLKRQEG RVPVLRSCKV HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS
REAFHAGKRH YKCSECGKAF GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV
HTGERPYGCS NCGKSFSRNA HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV
RPYECSECGK LFSFNSSLMK HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK
CSDCGKFFTQ CSSLMQHQKV HTGEKPFKCN ECGRFFRENS SLVKHQRVHT GAKPYECREC
GKFFRHNSSL FKHRRIHTGE MQ*
mutated AA sequence MAAAALRDPA QQGYVTFEDV AVYFSQEEWR LLDDAQRLLY RNVMLENFTL LASLGLASSK
THEITQLESW EEPFMPAWEV VTSAIPRGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC
GEKPLKRQQG RVPVLRSCKV HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS
REAFHAGKRH YKCSECGKAF GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV
HTGERPYGCS NCGKSFSRNA HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV
RPYECSECGK LFSFNSSLMK HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK
CSDCGKFFTQ CSSLMQHQKV HTGEKPFKCN ECGRFFRENS SLVKHQRVHT GAKPYECREC
GKFFRHNSSL FKHRRIHTGE MQ*
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: simple_aae, prob: 0.999999999978136 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000415379
Genbank transcript ID NM_001098495
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.283G>C
cDNA.484G>C
g.5268G>C
AA changes E95Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
95
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT
 AAGA|gggc
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC
 AGAG|ggca
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC
 GAGG|gcag
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      95QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    95QHCGEKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
2798DOMAINKRAB.lost
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1596 / 1596
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 202 / 202
chromosome 19
strand 1
last intron/exon boundary 362
theoretical NMD boundary in CDS 110
length of CDS 1395
coding sequence (CDS) position 283
cDNA position
(for ins/del: last normal base / first normal base)
484
gDNA position
(for ins/del: last normal base / first normal base)
5268
chromosomal position
(for ins/del: last normal base / first normal base)
58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QGYVTFEDVA VYFSQEEWRL LDDAQRLLYR NVMLENFTLL ASLGCWHGAE
AEEAPEQIAS VGLLSSNIQQ HQKQHCGEKP LKRQEGRVPV LRSCKVHLSE KSLQSREVGK
ALLISSGVLK HQVTHTGEKS HRSSKSREAF HAGKRHYKCS ECGKAFGQKY LLVQHQRLHA
GKKTYECSEC GKLFRDMSNL FIHQIVHTGE RPYGCSNCGK SFSRNAHLIE HQRVHTGEKP
FTCSECGKAF RHNSTLVQHH KIHTGVRPYE CSECGKLFSF NSSLMKHQRI HTGERPYKCS
ECGKFYSHKS NLIKHWRVHT GERPYKCSDC GKFFTQCSSL MQHQKVHTGE KPFKCNECGR
FFRENSTLVR HQRVHTGAKP YECRECGKFF SQSSTLMQHR KVHIGEKPFK CNECGRLFRE
NSSLVKHQRV HTGAKPYECR ECGKFFRHNS SLFKHRRIHT GEMQ*
mutated AA sequence MAAAALRDPA QGYVTFEDVA VYFSQEEWRL LDDAQRLLYR NVMLENFTLL ASLGCWHGAE
AEEAPEQIAS VGLLSSNIQQ HQKQHCGEKP LKRQQGRVPV LRSCKVHLSE KSLQSREVGK
ALLISSGVLK HQVTHTGEKS HRSSKSREAF HAGKRHYKCS ECGKAFGQKY LLVQHQRLHA
GKKTYECSEC GKLFRDMSNL FIHQIVHTGE RPYGCSNCGK SFSRNAHLIE HQRVHTGEKP
FTCSECGKAF RHNSTLVQHH KIHTGVRPYE CSECGKLFSF NSSLMKHQRI HTGERPYKCS
ECGKFYSHKS NLIKHWRVHT GERPYKCSDC GKFFTQCSSL MQHQKVHTGE KPFKCNECGR
FFRENSTLVR HQRVHTGAKP YECRECGKFF SQSSTLMQHR KVHIGEKPFK CNECGRLFRE
NSSLVKHQRV HTGAKPYECR ECGKFFRHNS SLFKHRRIHT GEMQ*
speed 1.55 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

annotation problem

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