MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000403843
Querying Taster for transcript #2: ENST00000349618
Querying Taster for transcript #3: ENST00000436292
Querying Taster for transcript #4: ENST00000374204
MT speed 0 s - this script 3.86149 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF683	polymorphism_automatic	2.02228012113892e-10	simple_aae				D48G	single base exchange	rs10794532		show file
ZNF683	polymorphism_automatic	2.02228012113892e-10	simple_aae				D48G	single base exchange	rs10794532		show file
ZNF683	polymorphism_automatic	2.02228012113892e-10	simple_aae				D48G	single base exchange	rs10794532		show file
ZNF683	polymorphism_automatic	2.02228012113892e-10	simple_aae				D48G	single base exchange	rs10794532		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999797772 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM152560)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:26694260T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF683

Ensembl transcript ID

ENST00000349618

Genbank transcript ID

N/A

UniProt peptide

Q8IZ20

alteration type

single base exchange

alteration region

CDS

DNA changes

c.143A>G
cDNA.224A>G
g.6754A>G

AA changes

D48G Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs10794532

database	homozygous (C/C)	heterozygous	allele carriers
1000G	350	1026	1376
ExAC	4393	20313	24706

known disease mutation at this position, please check HGMD for details (HGMD ID CM152560)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.16	0.003
	0.035	0.002
(flanking)	1.106	0.002

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

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000000383

Mmulatta

all identical

ENSMMUG00000003420

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000049410

ADA

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000078161

n/a

Dmelanogaster

no alignment

FBgn0035625

n/a

Celegans

no alignment

F25D7.3

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1515 / 1515

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

505 / 505

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

82 / 82

chromosome

strand

-1

last intron/exon boundary

1225

theoretical NMD boundary in CDS

1093

length of CDS

1515

coding sequence (CDS) position

143

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

224

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

6754

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

26694260

original gDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered gDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

original cDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered cDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

wildtype AA sequence

MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPDMV DAHGPSCASW
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT
QLAHLQKHHL VHTGERPHKC SVCHKRFSSS SNLKTHLRLH SGARPFQCSV CRSRFTQHIH
LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA VASEKHMGYD IDEVKVSSTS
QGKARAVSLS SAGTPLVMGQ DQNN*

mutated AA sequence

MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPGMV DAHGPSCASW
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT
QLAHLQKHHL VHTGERPHKC SVCHKRFSSS SNLKTHLRLH SGARPFQCSV CRSRFTQHIH
LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA VASEKHMGYD IDEVKVSSTS
QGKARAVSLS SAGTPLVMGQ DQNN*

speed

0.63 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: 0.999999999797772 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM152560)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:26694260T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF683

Ensembl transcript ID

ENST00000403843

Genbank transcript ID

N/A

UniProt peptide

Q8IZ20

alteration type

single base exchange

alteration region

CDS

DNA changes

c.143A>G
cDNA.221A>G
g.6754A>G

AA changes

D48G Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs10794532

database	homozygous (C/C)	heterozygous	allele carriers
1000G	350	1026	1376
ExAC	4393	20313	24706

known disease mutation at this position, please check HGMD for details (HGMD ID CM152560)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.16	0.003
	0.035	0.002
(flanking)	1.106	0.002

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

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000000383

Mmulatta

all identical

ENSMMUG00000003420

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000049410

ADA

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000078161

n/a

Dmelanogaster

no alignment

FBgn0035625

n/a

Celegans

no alignment

F25D7.3

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1575 / 1575

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

525 / 525

position of stopcodon in wt / mu cDNA

1653 / 1653

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

79 / 79

chromosome

strand

-1

last intron/exon boundary

1282

theoretical NMD boundary in CDS

1153

length of CDS

1575

coding sequence (CDS) position

143

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

221

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

6754

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

26694260

original gDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered gDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

original cDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered cDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

wildtype AA sequence

MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPDMV DAHGPSCASW
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT
QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER EVCHKRFSSS SNLKTHLRLH
SGARPFQCSV CRSRFTQHIH LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA
VASEKHMGYD IDEVKVSSTS QGKARAVSLS SAGTPLVMGQ DQNN*

mutated AA sequence

MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPGMV DAHGPSCASW
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT
QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER EVCHKRFSSS SNLKTHLRLH
SGARPFQCSV CRSRFTQHIH LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA
VASEKHMGYD IDEVKVSSTS QGKARAVSLS SAGTPLVMGQ DQNN*

speed

0.58 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999797772 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM152560)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:26694260T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF683

Ensembl transcript ID

ENST00000436292

Genbank transcript ID

N/A

UniProt peptide

Q8IZ20

alteration type

single base exchange

alteration region

CDS

DNA changes

c.143A>G
cDNA.264A>G
g.6754A>G

AA changes

D48G Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs10794532

database	homozygous (C/C)	heterozygous	allele carriers
1000G	350	1026	1376
ExAC	4393	20313	24706

known disease mutation at this position, please check HGMD for details (HGMD ID CM152560)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.16	0.003
	0.035	0.002
(flanking)	1.106	0.002

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

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000000383

Mmulatta

all identical

ENSMMUG00000003420

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000049410

ADA

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000078161

n/a

Dmelanogaster

no alignment

FBgn0035625

n/a

Celegans

no alignment

F25D7.3

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1575 / 1575

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

525 / 525

position of stopcodon in wt / mu cDNA

1696 / 1696

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

122 / 122

chromosome

strand

-1

last intron/exon boundary

1325

theoretical NMD boundary in CDS

1153

length of CDS

1575

coding sequence (CDS) position

143

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

264

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

6754

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

26694260

original gDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered gDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

original cDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered cDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

wildtype AA sequence

MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPDMV DAHGPSCASW
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT
QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER EVCHKRFSSS SNLKTHLRLH
SGARPFQCSV CRSRFTQHIH LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA
VASEKHMGYD IDEVKVSSTS QGKARAVSLS SAGTPLVMGQ DQNN*

mutated AA sequence

MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPGMV DAHGPSCASW
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT
QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER EVCHKRFSSS SNLKTHLRLH
SGARPFQCSV CRSRFTQHIH LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA
VASEKHMGYD IDEVKVSSTS QGKARAVSLS SAGTPLVMGQ DQNN*

speed

0.84 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999797772 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM152560)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:26694260T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF683

Ensembl transcript ID

ENST00000374204

Genbank transcript ID

NM_001114759

UniProt peptide

Q8IZ20

alteration type

single base exchange

alteration region

CDS

DNA changes

c.143A>G
cDNA.261A>G
g.6754A>G

AA changes

D48G Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs10794532

database	homozygous (C/C)	heterozygous	allele carriers
1000G	350	1026	1376
ExAC	4393	20313	24706

known disease mutation at this position, please check HGMD for details (HGMD ID CM152560)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.16	0.003
	0.035	0.002
(flanking)	1.106	0.002

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

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000000383

Mmulatta

all identical

ENSMMUG00000003420

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000049410

ADA

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000078161

n/a

Dmelanogaster

no alignment

FBgn0035625

n/a

Celegans

no alignment

F25D7.3

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1515 / 1515

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

505 / 505

position of stopcodon in wt / mu cDNA

1633 / 1633

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

119 / 119

chromosome

strand

-1

last intron/exon boundary

1262

theoretical NMD boundary in CDS

1093

length of CDS

1515

coding sequence (CDS) position

143

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

261

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

6754

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

26694260

original gDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered gDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

original cDNA sequence snippet

AGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCC

altered cDNA sequence snippet

AGCCTGCAGACCACTTCCAGGCATGGTGGATGCTCATGGCC

wildtype AA sequence

mutated AA sequence

speed

0.39 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

Problems