MutationTaster - study a chromosomal position

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: ENST00000542838
Querying Taster for transcript #2: ENST00000228264
Querying Taster for transcript #3: ENST00000545668
Querying Taster for transcript #4: ENST00000350437
Querying Taster for transcript #5: ENST00000407793
Querying Taster for transcript #6: ENST00000251758
MT speed 0 s - this script 4.703398 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DDX11	polymorphism_automatic	8.19387513559811e-05	simple_aae				R856H	single base exchange	rs1046457		show file
DDX11	polymorphism_automatic	8.19387513559811e-05	simple_aae				R856H	single base exchange	rs1046457		show file
DDX11	polymorphism_automatic	0.000481099198351043	simple_aae				V858I	single base exchange	rs1046457		show file
DDX11	polymorphism_automatic	0.000481099198351043	simple_aae				V832I	single base exchange	rs1046457		show file
DDX11	polymorphism_automatic	0.000481099198351043	simple_aae				V808I	single base exchange	rs1046457		show file
DDX11	polymorphism_automatic	0.999999999999641	without_aae					single base exchange	rs1046457		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999918061248644 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31256546G>AN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000545668

Genbank transcript ID

NM_001257144

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2567G>A
cDNA.2647G>A
g.29768G>A

AA changes

R856H Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

856

frameshift

known variant

Reference ID: rs1046457

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1065	1046	2111
ExAC	15900	967	16867

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.992	1
	0.939	0.996
(flanking)	3.01	0.983

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

856

mutated

not conserved

856

Ptroglodytes

not conserved

ENSPTRG00000004804

856

Mmulatta

no alignment

ENSMMUG00000022864

n/a

Fcatus

no alignment

ENSFCAG00000016277

n/a

Mmusculus

no alignment

ENSMUSG00000035842

n/a

Ggallus

no alignment

ENSGALG00000012969

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000011072

n/a

Dmelanogaster

no alignment

FBgn0026876

n/a

Celegans

no alignment

M03C11.2

n/a

Xtropicalis

no alignment

ENSXETG00000003629

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2913 / 2913

position (AA) of stopcodon in wt / mu AA sequence

971 / 971

position of stopcodon in wt / mu cDNA

2993 / 2993

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

81 / 81

chromosome

strand

last intron/exon boundary

2767

theoretical NMD boundary in CDS

2636

length of CDS

2913

coding sequence (CDS) position

2567

cDNA position
(for ins/del: last normal base / first normal base)

2647

gDNA position
(for ins/del: last normal base / first normal base)

29768

chromosomal position
(for ins/del: last normal base / first normal base)

31256546

original gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

original cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQHSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *

speed

0.99 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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999918061248644 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31256546G>AN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000407793

Genbank transcript ID

NM_152438

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2567G>A
cDNA.2818G>A
g.29768G>A

AA changes

R856H Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

856

frameshift

known variant

Reference ID: rs1046457

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1065	1046	2111
ExAC	15900	967	16867

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.992	1
	0.939	0.996
(flanking)	3.01	0.983

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

856

mutated

not conserved

856

Ptroglodytes

not conserved

ENSPTRG00000004804

856

Mmulatta

no alignment

ENSMMUG00000022864

n/a

Fcatus

no alignment

ENSFCAG00000016277

n/a

Mmusculus

no alignment

ENSMUSG00000035842

n/a

Ggallus

no alignment

ENSGALG00000012969

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000011072

n/a

Dmelanogaster

no alignment

FBgn0026876

n/a

Celegans

no alignment

M03C11.2

n/a

Xtropicalis

no alignment

ENSXETG00000003629

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2913 / 2913

position (AA) of stopcodon in wt / mu AA sequence

971 / 971

position of stopcodon in wt / mu cDNA

3164 / 3164

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

252 / 252

chromosome

strand

last intron/exon boundary

2938

theoretical NMD boundary in CDS

2636

length of CDS

2913

coding sequence (CDS) position

2567

cDNA position
(for ins/del: last normal base / first normal base)

2818

gDNA position
(for ins/del: last normal base / first normal base)

29768

chromosomal position
(for ins/del: last normal base / first normal base)

31256546

original gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

original cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

wildtype AA sequence

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQHSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999518900801649 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31256546G>AN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000542838

Genbank transcript ID

NM_030653

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2572G>A
cDNA.2823G>A
g.29768G>A

AA changes

V858I Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

858

frameshift

known variant

Reference ID: rs1046457

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1065	1046	2111
ExAC	15900	967	16867

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.992	1
	0.939	0.996
(flanking)	3.01	0.983

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

858

mutated

all conserved

858

Ptroglodytes

no alignment

ENSPTRG00000004804

n/a

Mmulatta

all conserved

ENSMMUG00000022864

858

Fcatus

all conserved

ENSFCAG00000016277

859

Mmusculus

all conserved

ENSMUSG00000035842

830

Ggallus

all conserved

ENSGALG00000012969

862

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

840

Dmelanogaster

all identical

FBgn0026876

816

Celegans

all identical

M03C11.2

783

Xtropicalis

all conserved

ENSXETG00000003629

845

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2721 / 2721

position (AA) of stopcodon in wt / mu AA sequence

907 / 907

position of stopcodon in wt / mu cDNA

2972 / 2972

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

252 / 252

chromosome

strand

last intron/exon boundary

2943

theoretical NMD boundary in CDS

2641

length of CDS

2721

coding sequence (CDS) position

2572

cDNA position
(for ins/del: last normal base / first normal base)

2823

gDNA position
(for ins/del: last normal base / first normal base)

29768

chromosomal position
(for ins/del: last normal base / first normal base)

31256546

original gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

original cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK ALVENLCMKA
VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP AIAAVQKFHR
EKSASS*

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK ALVENLCMKA
VNQSIGRAIR HQKDFASIVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP AIAAVQKFHR
EKSASS*

speed

0.66 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999518900801649 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31256546G>AN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000228264

Genbank transcript ID

NM_001257145

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2494G>A
cDNA.2613G>A
g.29768G>A

AA changes

V832I Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

832

frameshift

known variant

Reference ID: rs1046457

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1065	1046	2111
ExAC	15900	967	16867

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.992	1
	0.939	0.996
(flanking)	3.01	0.983

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

832

mutated

all conserved

832

Ptroglodytes

no alignment

ENSPTRG00000004804

n/a

Mmulatta

all conserved

ENSMMUG00000022864

858

Fcatus

all conserved

ENSFCAG00000016277

859

Mmusculus

all conserved

ENSMUSG00000035842

830

Ggallus

all conserved

ENSGALG00000012969

862

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

840

Dmelanogaster

all identical

FBgn0026876

813

Celegans

all identical

M03C11.2

783

Xtropicalis

all conserved

ENSXETG00000003629

846

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2643 / 2643

position (AA) of stopcodon in wt / mu AA sequence

881 / 881

position of stopcodon in wt / mu cDNA

2762 / 2762

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

120 / 120

chromosome

strand

last intron/exon boundary

2733

theoretical NMD boundary in CDS

2563

length of CDS

2643

coding sequence (CDS) position

2494

cDNA position
(for ins/del: last normal base / first normal base)

2613

gDNA position
(for ins/del: last normal base / first normal base)

29768

chromosomal position
(for ins/del: last normal base / first normal base)

31256546

original gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

original cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

wildtype AA sequence

MAELYRVLEA GKIGIFESPT GTGKSLSLIC GALSWLRDFE QKKREEEARL LETGTGPLHD
EKDESLCLSS SCEGAAGTPR PAGEPAWVTQ FVQKKEERDL VDRLKAEQAR RKQREERLQQ
LQHRVQLKYA AKRLRQEEEE RENLLRLSRE MLETGPEAER LEQLESGEEE LVLAEYESDE
EKKVASRVDE DEDDLEEEHI TKIYYCSRTH SQLAQFVHEV KKSPFGKDVR LVSLGSRQNL
CVNEDVKSLG SVQLINDRCV DMQRSRHEKK KGAEEEKPKR RRQEKQAACP FYNHEQMGLL
RDEALAEVKD MEQLLALGKE ARACPYYGSR LAIPAAQLVV LPYQMLLHAA TRQAAGIRLQ
DQVVIIDEAH NLIDTITGMH SVEVSGSQLC QAHSQLLQYV ERYGKRLKAK NLMYLKQILY
LLEKFVAVLG GNIKQNPNTQ SLSQTGTELK TINDFLFQSQ IDNINLFKVQ RYCEKSMISR
KLFGFTERYG AVFSSREQPK LAGFQQFLQS LQPRTTEALA APADESQAST LRPASPLMHI
QGFLAALTTA NQDGRVILSR QGSLSQSTLK FLLLNPAVHF AQVVKECRAV VIAGGTMQPV
SDFRQQLLAC AGVEAERVVE FSCGHVIPPD NILPLVICSG ISNQPLEFTF QKRELPQMMD
EVGRILCNLC GVVPGGVVCF FPSYEYLRQV HAHWEKGGLL GRLAARKKIF QEPKSAHQVE
QVLLAYSRCI QACGQERGQV TGALLLSVVG GKMSEGINFS DNLGRCVVMV GMPFPNIRSA
ELQEKMAYLD QTLPRAPGQA PPGKALVENL CMKAVNQSIG RAIRHQKDFA SVVLLDQRYA
RPPVLAKLPA WIRARVEVKA TFGPAIAAVQ KFHREKSASS *

mutated AA sequence

MAELYRVLEA GKIGIFESPT GTGKSLSLIC GALSWLRDFE QKKREEEARL LETGTGPLHD
EKDESLCLSS SCEGAAGTPR PAGEPAWVTQ FVQKKEERDL VDRLKAEQAR RKQREERLQQ
LQHRVQLKYA AKRLRQEEEE RENLLRLSRE MLETGPEAER LEQLESGEEE LVLAEYESDE
EKKVASRVDE DEDDLEEEHI TKIYYCSRTH SQLAQFVHEV KKSPFGKDVR LVSLGSRQNL
CVNEDVKSLG SVQLINDRCV DMQRSRHEKK KGAEEEKPKR RRQEKQAACP FYNHEQMGLL
RDEALAEVKD MEQLLALGKE ARACPYYGSR LAIPAAQLVV LPYQMLLHAA TRQAAGIRLQ
DQVVIIDEAH NLIDTITGMH SVEVSGSQLC QAHSQLLQYV ERYGKRLKAK NLMYLKQILY
LLEKFVAVLG GNIKQNPNTQ SLSQTGTELK TINDFLFQSQ IDNINLFKVQ RYCEKSMISR
KLFGFTERYG AVFSSREQPK LAGFQQFLQS LQPRTTEALA APADESQAST LRPASPLMHI
QGFLAALTTA NQDGRVILSR QGSLSQSTLK FLLLNPAVHF AQVVKECRAV VIAGGTMQPV
SDFRQQLLAC AGVEAERVVE FSCGHVIPPD NILPLVICSG ISNQPLEFTF QKRELPQMMD
EVGRILCNLC GVVPGGVVCF FPSYEYLRQV HAHWEKGGLL GRLAARKKIF QEPKSAHQVE
QVLLAYSRCI QACGQERGQV TGALLLSVVG GKMSEGINFS DNLGRCVVMV GMPFPNIRSA
ELQEKMAYLD QTLPRAPGQA PPGKALVENL CMKAVNQSIG RAIRHQKDFA SIVLLDQRYA
RPPVLAKLPA WIRARVEVKA TFGPAIAAVQ KFHREKSASS *

speed

0.64 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999518900801649 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31256546G>AN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000350437

Genbank transcript ID

NM_004399

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2422G>A
cDNA.2620G>A
g.29768G>A

AA changes

V808I Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

808

frameshift

known variant

Reference ID: rs1046457

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1065	1046	2111
ExAC	15900	967	16867

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.992	1
	0.939	0.996
(flanking)	3.01	0.983

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

808

mutated

all conserved

808

Ptroglodytes

no alignment

ENSPTRG00000004804

n/a

Mmulatta

all conserved

ENSMMUG00000022864

858

Fcatus

all conserved

ENSFCAG00000016277

859

Mmusculus

all conserved

ENSMUSG00000035842

830

Ggallus

all conserved

ENSGALG00000012969

862

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

840

Dmelanogaster

all identical

FBgn0026876

813

Celegans

all identical

M03C11.2

783

Xtropicalis

all conserved

ENSXETG00000003629

845

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2571 / 2571

position (AA) of stopcodon in wt / mu AA sequence

857 / 857

position of stopcodon in wt / mu cDNA

2769 / 2769

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

199 / 199

chromosome

strand

last intron/exon boundary

2740

theoretical NMD boundary in CDS

2491

length of CDS

2571

coding sequence (CDS) position

2422

cDNA position
(for ins/del: last normal base / first normal base)

2620

gDNA position
(for ins/del: last normal base / first normal base)

29768

chromosomal position
(for ins/del: last normal base / first normal base)

31256546

original gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

original cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL
LLSVVGGKMS EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK
ALVENLCMKA VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP
AIAAVQKFHR EKSASS*

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL
LLSVVGGKMS EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK
ALVENLCMKA VNQSIGRAIR HQKDFASIVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP
AIAAVQKFHR EKSASS*

speed

0.93 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 3.59120318540156e-13 (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)

chr12:31256546G>AN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000251758

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.3011G>A
g.29768G>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs1046457

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1065	1046	2111
ExAC	15900	967	16867

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.992	1
	0.939	0.996
(flanking)	3.01	0.983

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

252 / 252

chromosome

strand

last intron/exon boundary

3131

theoretical NMD boundary in CDS

2829

length of CDS

867

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

3011

gDNA position
(for ins/del: last normal base / first normal base)

29768

chromosomal position
(for ins/del: last normal base / first normal base)

31256546

original gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered gDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

original cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA

altered cDNA sequence snippet

ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA

wildtype AA sequence

mutated AA sequence

N/A

speed

0.97 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems