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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000471231
Querying Taster for transcript #2: ENST00000338343
Querying Taster for transcript #3: ENST00000562319
Querying Taster for transcript #4: ENST00000380310
MT speed 0 s - this script 3.049556 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FBXL19polymorphism_automatic0.00142304239275903simple_aaeaffectedE10Ksingle base exchangers35675346show file
FBXL19polymorphism_automatic1without_aaeaffectedsingle base exchangers35675346show file
FBXL19polymorphism_automatic1without_aaeaffectedsingle base exchangers35675346show file
FBXL19polymorphism_automatic1without_aaeaffectedsingle base exchangers35675346show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998576957607241 (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) chr16:30936081G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXL19
Ensembl transcript ID ENST00000380310
Genbank transcript ID NM_001099784
UniProt peptide Q6PCT2
alteration type single base exchange
alteration region CDS
DNA changes c.28G>A
cDNA.186G>A
g.1706G>A
AA changes E10K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 10
frameshift no
known variant Reference ID: rs35675346
databasehomozygous (A/A)heterozygousallele carriers
1000G3859001285
ExAC55342012225656
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2570.923
3.0170.913
(flanking)0.30.496
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 increased1697wt: 0.8802 / mu: 0.9336 (marginal change - not scored)wt: TCCCCGGAAAGGGGG
mu: TCCCCGGAAAGGGGA		 CCCG|gaaa
Donor increased1702wt: 0.75 / mu: 1.00wt: GGAAAGGGGGAATCT
mu: GGAAAGGGGAAATCT		 AAAG|gggg
Donor marginally increased1703wt: 0.6569 / mu: 0.6685 (marginal change - not scored)wt: GAAAGGGGGAATCTG
mu: GAAAGGGGAAATCTG		 AAGG|ggga
Donor gained17010.30mu: CGGAAAGGGGAAATC GAAA|gggg
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      10 MGMKVPGKGESGPSALLTPPMS
mutated  all conserved    10 MGMKVPGKGKSGPSALLTPPMS
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000003230  n/a
Fcatus  no alignment  ENSFCAG00000002585  n/a
Mmusculus  no alignment  ENSMUSG00000030811  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0037659  n/a
Celegans  no alignment  T26A5.5  n/a
Xtropicalis  no alignment  ENSXETG00000001927  n/a
protein features
start (aa)end (aa)featuredetails 
2225COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
3278ZN_FINGCXXC-type.might get lost (downstream of altered splice site)
3347COMPBIASArg-rich.might get lost (downstream of altered splice site)
85151ZN_FINGPHD-type.might get lost (downstream of altered splice site)
115115MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
186302COMPBIASPro-rich.might get lost (downstream of altered splice site)
324342COMPBIASSer-rich.might get lost (downstream of altered splice site)
375425COMPBIASPro-rich.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
418464DOMAINF-box.might get lost (downstream of altered splice site)
492517REPEATLRR 1.might get lost (downstream of altered splice site)
518541REPEATLRR 2.might get lost (downstream of altered splice site)
581606REPEATLRR 3.might get lost (downstream of altered splice site)
607636REPEATLRR 4.might get lost (downstream of altered splice site)
637661REPEATLRR 5.might get lost (downstream of altered splice site)
662694REPEATLRR 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2085 / 2085
position (AA) of stopcodon in wt / mu AA sequence 695 / 695
position of stopcodon in wt / mu cDNA 2243 / 2243
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 159 / 159
chromosome 16
strand 1
last intron/exon boundary 2065
theoretical NMD boundary in CDS 1856
length of CDS 2085
coding sequence (CDS) position 28
cDNA position
(for ins/del: last normal base / first normal base)		 186
gDNA position
(for ins/del: last normal base / first normal base)		 1706
chromosomal position
(for ins/del: last normal base / first normal base)		 30936081
original gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGGTAAGACTGACT
altered gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGGTAAGACTGACT
original cDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGCCCTCGGCGTTG
altered cDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGCCCTCGGCGTTG
wildtype AA sequence MGMKVPGKGE SGPSALLTPP MSSSSRGPGA GARRRRTRCR RCRACVRTEC GDCHFCRDMK
KFGGPGRMKQ SCLLRQCTAP VLPHTAVCLL CGEAGKEDTV EGEEEKFGLS LMECTICNEI
VHPGCLKMGK AEGVINAEIP NCWECPRCTQ EGRTSKDSGE GPGRRRADNG EEGASLGSGW
KLTEEPPLPP PPPRRKGPLP AGPPPEDVPG PPKRKEREAG NEPPTPRKKV KGGRERHLKK
VGGDACLLRG SDPGGPGLLP PRVLNPSQAF SSCHPGLPPE NWEKPKPPLA SAEGPAVPSP
SPQREKLERF KRMCQLLERV PDTSSSSSDS DSDSDSSGTS LSEDEAPGEA RNGRRPARGS
SGEKENRGGR RAVRPGSGGP LLSWPLGPAP PPRPPQLERH VVRPPPRSPE PDTLPLAAGS
DHPLPRAAWL RVFQHLGPRE LCICMRVCRT WSRWCYDKRL WPRMDLSRRK SLTPPMLSGV
VRRQPRALDL SWTGVSKKQL MWLLNRLQGL QELVLSGCSW LSVSALGSAP LPALRLLDLR
WIEDVKDSQL RELLLPPPDT KPGQTESRGR LQGVAELRLA GLELTDASLR LLLRHAPQLS
ALDLSHCAHV GDPSVHLLTA PTSPLRETLV HLNLAGCHRL TDHCLPLFRR CPRLRRLDLR
SCRQLSPEAC ARLAAAGPPG PFRCPEEKLL LKDS*
mutated AA sequence MGMKVPGKGK SGPSALLTPP MSSSSRGPGA GARRRRTRCR RCRACVRTEC GDCHFCRDMK
KFGGPGRMKQ SCLLRQCTAP VLPHTAVCLL CGEAGKEDTV EGEEEKFGLS LMECTICNEI
VHPGCLKMGK AEGVINAEIP NCWECPRCTQ EGRTSKDSGE GPGRRRADNG EEGASLGSGW
KLTEEPPLPP PPPRRKGPLP AGPPPEDVPG PPKRKEREAG NEPPTPRKKV KGGRERHLKK
VGGDACLLRG SDPGGPGLLP PRVLNPSQAF SSCHPGLPPE NWEKPKPPLA SAEGPAVPSP
SPQREKLERF KRMCQLLERV PDTSSSSSDS DSDSDSSGTS LSEDEAPGEA RNGRRPARGS
SGEKENRGGR RAVRPGSGGP LLSWPLGPAP PPRPPQLERH VVRPPPRSPE PDTLPLAAGS
DHPLPRAAWL RVFQHLGPRE LCICMRVCRT WSRWCYDKRL WPRMDLSRRK SLTPPMLSGV
VRRQPRALDL SWTGVSKKQL MWLLNRLQGL QELVLSGCSW LSVSALGSAP LPALRLLDLR
WIEDVKDSQL RELLLPPPDT KPGQTESRGR LQGVAELRLA GLELTDASLR LLLRHAPQLS
ALDLSHCAHV GDPSVHLLTA PTSPLRETLV HLNLAGCHRL TDHCLPLFRR CPRLRRLDLR
SCRQLSPEAC ARLAAAGPPG PFRCPEEKLL LKDS*
speed 0.60 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: 3.66034110004855e-20 (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) chr16:30936081G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXL19
Ensembl transcript ID ENST00000471231
Genbank transcript ID N/A
UniProt peptide Q6PCT2
alteration type single base exchange
alteration region intron
DNA changes g.1706G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs35675346
databasehomozygous (A/A)heterozygousallele carriers
1000G3859001285
ExAC55342012225656
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2570.923
3.0170.913
(flanking)0.30.496
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -287) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased1697wt: 0.8802 / mu: 0.9336 (marginal change - not scored)wt: TCCCCGGAAAGGGGG
mu: TCCCCGGAAAGGGGA		 CCCG|gaaa
Donor increased1702wt: 0.75 / mu: 1.00wt: GGAAAGGGGGAATCT
mu: GGAAAGGGGAAATCT		 AAAG|gggg
Donor marginally increased1703wt: 0.6569 / mu: 0.6685 (marginal change - not scored)wt: GAAAGGGGGAATCTG
mu: GAAAGGGGAAATCTG		 AAGG|ggga
Donor gained17010.30mu: CGGAAAGGGGAAATC GAAA|gggg
distance from splice site 1009
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2225COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
3278ZN_FINGCXXC-type.might get lost (downstream of altered splice site)
3347COMPBIASArg-rich.might get lost (downstream of altered splice site)
85151ZN_FINGPHD-type.might get lost (downstream of altered splice site)
115115MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
186302COMPBIASPro-rich.might get lost (downstream of altered splice site)
324342COMPBIASSer-rich.might get lost (downstream of altered splice site)
375425COMPBIASPro-rich.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
418464DOMAINF-box.might get lost (downstream of altered splice site)
492517REPEATLRR 1.might get lost (downstream of altered splice site)
518541REPEATLRR 2.might get lost (downstream of altered splice site)
581606REPEATLRR 3.might get lost (downstream of altered splice site)
607636REPEATLRR 4.might get lost (downstream of altered splice site)
637661REPEATLRR 5.might get lost (downstream of altered splice site)
662694REPEATLRR 6.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 947 / 947
chromosome 16
strand 1
last intron/exon boundary 1917
theoretical NMD boundary in CDS 920
length of CDS 1149
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)		 1706
chromosomal position
(for ins/del: last normal base / first normal base)		 30936081
original gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGGTAAGACTGACT
altered gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGGTAAGACTGACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MCQLLERVPD TSSSSSDSDS DSDSSGTSLS EDEAPGEARN GRRPARGSSG EKENRGGRRA
VRPGSGGPLL SWPLGPAPPP RPPQLERHVV RPPPRSPEPD TLPLAAGSDH PLPRAAWLRV
FQHLGPRELC ICMRVCRTWS RWCYDKRLWP RMDLSRRKSL TPPMLSGVVR RQPRALDLSW
TGVSKKQLMW LLNRLQGLQE LVLSGCSWLS VSALGSAPLP ALRLLDLRWI EDVKDSQLRE
LLLPPPDTKP GQTESRGRLQ GVAELRLAGL ELTDASLRLL LRHAPQLSAL DLSHCAHVGD
PSVHLLTAPT SPLRETLVHL NLAGCHRLTD HCLPLFRRCP RLRRLDLRSC RQLSPEACAR
LAAAGPPGPF RCPEEKLLLK DS*
mutated AA sequence N/A
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: 3.66034110004855e-20 (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) chr16:30936081G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXL19
Ensembl transcript ID ENST00000338343
Genbank transcript ID N/A
UniProt peptide Q6PCT2
alteration type single base exchange
alteration region intron
DNA changes g.1706G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs35675346
databasehomozygous (A/A)heterozygousallele carriers
1000G3859001285
ExAC55342012225656
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2570.923
3.0170.913
(flanking)0.30.496
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -7) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased1697wt: 0.8802 / mu: 0.9336 (marginal change - not scored)wt: TCCCCGGAAAGGGGG
mu: TCCCCGGAAAGGGGA		 CCCG|gaaa
Donor increased1702wt: 0.75 / mu: 1.00wt: GGAAAGGGGGAATCT
mu: GGAAAGGGGAAATCT		 AAAG|gggg
Donor marginally increased1703wt: 0.6569 / mu: 0.6685 (marginal change - not scored)wt: GAAAGGGGGAATCTG
mu: GAAAGGGGAAATCTG		 AAGG|ggga
Donor gained17010.30mu: CGGAAAGGGGAAATC GAAA|gggg
distance from splice site 301
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2225COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
3278ZN_FINGCXXC-type.might get lost (downstream of altered splice site)
3347COMPBIASArg-rich.might get lost (downstream of altered splice site)
85151ZN_FINGPHD-type.might get lost (downstream of altered splice site)
115115MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
186302COMPBIASPro-rich.might get lost (downstream of altered splice site)
324342COMPBIASSer-rich.might get lost (downstream of altered splice site)
375425COMPBIASPro-rich.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
418464DOMAINF-box.might get lost (downstream of altered splice site)
492517REPEATLRR 1.might get lost (downstream of altered splice site)
518541REPEATLRR 2.might get lost (downstream of altered splice site)
581606REPEATLRR 3.might get lost (downstream of altered splice site)
607636REPEATLRR 4.might get lost (downstream of altered splice site)
637661REPEATLRR 5.might get lost (downstream of altered splice site)
662694REPEATLRR 6.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 388 / 388
chromosome 16
strand 1
last intron/exon boundary 2234
theoretical NMD boundary in CDS 1796
length of CDS 2025
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)		 1706
chromosomal position
(for ins/del: last normal base / first normal base)		 30936081
original gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGGTAAGACTGACT
altered gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGGTAAGACTGACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSSSSRGPGA GARRRRTRCR RCRACVRTEC GDCHFCRDMK KFGGPGRMKQ SCLLRQCTAP
VLPHTAVCLL CGEAGKEDTV EGEEEKFGLS LMECTICNEI VHPGCLKMGK AEGVINAEIP
NCWECPRCTQ EGRTSKDSGE GPGRRRADNG EEGASLGSGW KLTEEPPLPP PPPRRKGPLP
AGPPPEDVPG PPKRKEREAG NEPPTPRKKV KGGRERHLKK VGGDACLLRG SDPGGPGLLP
PRVLNPSQAF SSCHPGLPPE NWEKPKPPLA SAEGPAVPSP SPQREKLERF KRMCQLLERV
PDTSSSSSDS DSDSDSSGTS LSEDEAPGEA RNGRRPARGS SGEKENRGGR RAVRPGSGGP
LLSWPLGPAP PPRPPQLERH VVRPPPRSPE PDTLPLAAGS DHPLPRAAWL RVFQHLGPRE
LCICMRVCRT WSRWCYDKRL WPRMDLSRRK SLTPPMLSGV VRRQPRALDL SWTGVSKKQL
MWLLNRLQGL QELVLSGCSW LSVSALGSAP LPALRLLDLR WIEDVKDSQL RELLLPPPDT
KPGQTESRGR LQGVAELRLA GLELTDASLR LLLRHAPQLS ALDLSHCAHV GDPSVHLLTA
PTSPLRETLV HLNLAGCHRL TDHCLPLFRR CPRLRRLDLR SCRQLSPEAC ARLAAAGPPG
PFRCPEEKLL LKDS*
mutated AA sequence N/A
speed 0.42 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: 2.1493146457845e-21 (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) chr16:30936081G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXL19
Ensembl transcript ID ENST00000562319
Genbank transcript ID N/A
UniProt peptide Q6PCT2
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.186G>A
g.1706G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs35675346
databasehomozygous (A/A)heterozygousallele carriers
1000G3859001285
ExAC55342012225656
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2570.923
3.0170.913
(flanking)0.30.496
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -12) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased1697wt: 0.8802 / mu: 0.9336 (marginal change - not scored)wt: TCCCCGGAAAGGGGG
mu: TCCCCGGAAAGGGGA		 CCCG|gaaa
Donor increased1702wt: 0.75 / mu: 1.00wt: GGAAAGGGGGAATCT
mu: GGAAAGGGGAAATCT		 AAAG|gggg
Donor marginally increased1703wt: 0.6569 / mu: 0.6685 (marginal change - not scored)wt: GAAAGGGGGAATCTG
mu: GAAAGGGGAAATCTG		 AAGG|ggga
Donor gained17010.30mu: CGGAAAGGGGAAATC GAAA|gggg
distance from splice site 9
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2225COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
3278ZN_FINGCXXC-type.might get lost (downstream of altered splice site)
3347COMPBIASArg-rich.might get lost (downstream of altered splice site)
85151ZN_FINGPHD-type.might get lost (downstream of altered splice site)
115115MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
186302COMPBIASPro-rich.might get lost (downstream of altered splice site)
324342COMPBIASSer-rich.might get lost (downstream of altered splice site)
375425COMPBIASPro-rich.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
418464DOMAINF-box.might get lost (downstream of altered splice site)
492517REPEATLRR 1.might get lost (downstream of altered splice site)
518541REPEATLRR 2.might get lost (downstream of altered splice site)
581606REPEATLRR 3.might get lost (downstream of altered splice site)
607636REPEATLRR 4.might get lost (downstream of altered splice site)
637661REPEATLRR 5.might get lost (downstream of altered splice site)
662694REPEATLRR 6.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 219 / 219
chromosome 16
strand 1
last intron/exon boundary 2065
theoretical NMD boundary in CDS 1796
length of CDS 2025
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 186
gDNA position
(for ins/del: last normal base / first normal base)		 1706
chromosomal position
(for ins/del: last normal base / first normal base)		 30936081
original gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGGTAAGACTGACT
altered gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGGTAAGACTGACT
original cDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGCCCTCGGCGTTG
altered cDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGCCCTCGGCGTTG
wildtype AA sequence MSSSSRGPGA GARRRRTRCR RCRACVRTEC GDCHFCRDMK KFGGPGRMKQ SCLLRQCTAP
VLPHTAVCLL CGEAGKEDTV EGEEEKFGLS LMECTICNEI VHPGCLKMGK AEGVINAEIP
NCWECPRCTQ EGRTSKDSGE GPGRRRADNG EEGASLGSGW KLTEEPPLPP PPPRRKGPLP
AGPPPEDVPG PPKRKEREAG NEPPTPRKKV KGGRERHLKK VGGDACLLRG SDPGGPGLLP
PRVLNPSQAF SSCHPGLPPE NWEKPKPPLA SAEGPAVPSP SPQREKLERF KRMCQLLERV
PDTSSSSSDS DSDSDSSGTS LSEDEAPGEA RNGRRPARGS SGEKENRGGR RAVRPGSGGP
LLSWPLGPAP PPRPPQLERH VVRPPPRSPE PDTLPLAAGS DHPLPRAAWL RVFQHLGPRE
LCICMRVCRT WSRWCYDKRL WPRMDLSRRK SLTPPMLSGV VRRQPRALDL SWTGVSKKQL
MWLLNRLQGL QELVLSGCSW LSVSALGSAP LPALRLLDLR WIEDVKDSQL RELLLPPPDT
KPGQTESRGR LQGVAELRLA GLELTDASLR LLLRHAPQLS ALDLSHCAHV GDPSVHLLTA
PTSPLRETLV HLNLAGCHRL TDHCLPLFRR CPRLRRLDLR SCRQLSPEAC ARLAAAGPPG
PFRCPEEKLL LKDS*
mutated AA sequence N/A
speed 0.50 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems