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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000221204
Querying Taster for transcript #2: ENST00000398056
Querying Taster for transcript #3: ENST00000521427
Querying Taster for transcript #4: ENST00000522444
Querying Taster for transcript #5: ENST00000518650
Querying Taster for transcript #6: ENST00000381841
Querying Taster for transcript #7: ENST00000427924
Querying Taster for transcript #8: ENST00000398054
Querying Taster for transcript #9: ENST00000381840
MT speed 0 s - this script 6.623018 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic1.29896093881143e-14simple_aaeaffectedT15Isingle base exchangers484373show file
FGL1polymorphism_automatic9.2454165989686e-08without_aaeaffectedsingle base exchangers484373show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000221204
Genbank transcript ID N/A
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.523C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1418 / 1418
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 480 / 480
chromosome 8
strand -1
last intron/exon boundary 1259
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 523
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.89 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: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000398056
Genbank transcript ID N/A
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.860C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1755 / 1755
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 817 / 817
chromosome 8
strand -1
last intron/exon boundary 1596
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 860
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.85 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: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000522444
Genbank transcript ID N/A
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.269C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1164 / 1164
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 226 / 226
chromosome 8
strand -1
last intron/exon boundary 1005
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 269
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.83 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: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000518650
Genbank transcript ID N/A
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.190C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1085 / 1085
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 147 / 147
chromosome 8
strand -1
last intron/exon boundary 926
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 190
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.62 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: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000381841
Genbank transcript ID NM_201552
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.280C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1175 / 1175
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 237 / 237
chromosome 8
strand -1
last intron/exon boundary 1016
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 280
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.87 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: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000427924
Genbank transcript ID NM_004467
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.153C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1048 / 1048
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 110 / 110
chromosome 8
strand -1
last intron/exon boundary 889
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 153
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.75 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: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000398054
Genbank transcript ID NM_201553
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.368C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1263 / 1263
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 325 / 325
chromosome 8
strand -1
last intron/exon boundary 1104
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 368
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.80 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: 0.999999999999987 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000381840
Genbank transcript ID NM_147203
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.241C>T
g.24855C>T
AA changes T15I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15VFSFILVTTALTMGREISALEDCA
mutated  not conserved    15VFSFILVTTALIMGREISALEDC
Ptroglodytes  not conserved  ENSPTRG00000020025  15MFSFILVTTALIMSREISALEDC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  15MFSFLLVTTALVMGRKSWALENC
Mmusculus  not conserved  ENSMUSG00000031594  15IYSFVLVAIALMMGREGWALESENC
Ggallus  all identical  ENSGALG00000013606  16LLAASLTSATRSSDLQNC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087772  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000679  17YMAVIMAL-FGSPSLALESC
protein features
start (aa)end (aa)featuredetails 
122SIGNALlost
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1136 / 1136
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 198 / 198
chromosome 8
strand -1
last intron/exon boundary 977
theoretical NMD boundary in CDS 729
length of CDS 939
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 241
gDNA position
(for ins/del: last normal base / first normal base)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered cDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
wildtype AA sequence MAKVFSFILV TTALTMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
mutated AA sequence MAKVFSFILV TTALIMGREI SALEDCAQEQ MRLRAQVRLL ETRVKQQQVK IKQLLQENEV
QFLDKGDENT VIDLGSKRQY ADCSEIFNDG YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW
TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK HGEYWLGNKN LHFLTTQEDY TLKIDLADFE
KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD
HDNYEGNCAE EDQSGWWFNR CHSANLNGVY YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM
KIRPNDFIPN VI*
speed 0.61 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: 0.999999907545834 (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) chr8:17743020G>AN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000521427
Genbank transcript ID N/A
UniProt peptide Q08830
alteration type single base exchange
alteration region intron
DNA changes g.24855C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs484373
databasehomozygous (A/A)heterozygousallele carriers
1000G11279972124
ExAC31783-30799984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1820
0.2970
(flanking)-0.560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -8) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased24846wt: 0.8360 / mu: 0.8453 (marginal change - not scored)wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG
mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG		 ccac|CGCT
Acc marginally increased24845wt: 0.7436 / mu: 0.7808 (marginal change - not scored)wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG
mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG		 acca|CCGC
Acc marginally increased24857wt: 0.2953 / mu: 0.3372 (marginal change - not scored)wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA
mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA		 acaa|TGGG
Donor marginally increased24858wt: 0.2739 / mu: 0.3279 (marginal change - not scored)wt: GACAATGGGCAGGGA
mu: GATAATGGGCAGGGA		 CAAT|gggc
Donor increased24859wt: 0.51 / mu: 0.61wt: ACAATGGGCAGGGAA
mu: ATAATGGGCAGGGAA		 AATG|ggca
Donor marginally increased24853wt: 0.2685 / mu: 0.2877 (marginal change - not scored)wt: GCTCTGACAATGGGC
mu: GCTCTGATAATGGGC		 TCTG|acaa
distance from splice site 3332
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
122SIGNALmight get lost (downstream of altered splice site)
2361COILEDPotential.might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
2626DISULFIDInterchain (Potential).might get lost (downstream of altered splice site)
6969CONFLICTN -> D (in Ref. 1; BAA03336).might get lost (downstream of altered splice site)
74306DOMAINFibrinogen C-terminal.might get lost (downstream of altered splice site)
8383DISULFIDBy similarity.might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
261261DISULFIDBy similarity.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 658 / 658
chromosome 8
strand -1
last intron/exon boundary 1347
theoretical NMD boundary in CDS 639
length of CDS 849
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)		 24855
chromosomal position
(for ins/del: last normal base / first normal base)		 17743020
original gDNA sequence snippet CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG
altered gDNA sequence snippet CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MRLRAQVRLL ETRVKQQQVK IKQLLQENEV QFLDKGDENT VIDLGSKRQY ADCSEIFNDG
YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK
HGEYWLGNKN LHFLTTQEDY TLKIDLADFE KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT
AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD HDNYEGNCAE EDQSGWWFNR CHSANLNGVY
YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM KIRPNDFIPN VI*
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
back to results table

Problems