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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000350302
Querying Taster for transcript #2: ENST00000276326
Querying Taster for transcript #3: ENST00000382824
Querying Taster for transcript #4: ENST00000447233
Querying Taster for transcript #5: ENST00000352684
MT speed 6.07 s - this script 5.671896 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FBXO25polymorphism_automatic1.49880108324396e-14simple_aaeaffectedR38Hsingle base exchangers10090550show file
FBXO25polymorphism_automatic1.49880108324396e-14simple_aaeaffectedR38Hsingle base exchangers10090550show file
FBXO25polymorphism_automatic1.49880108324396e-14simple_aaeaffectedR38Hsingle base exchangers10090550show file
FBXO25polymorphism_automatic4.81787890505014e-06without_aaeaffectedsingle base exchangers10090550show file
FBXO25polymorphism_automatic4.81787890505014e-06without_aaeaffectedsingle base exchangers10090550show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999985 (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) chr8:363192G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXO25
Ensembl transcript ID ENST00000350302
Genbank transcript ID NM_183420
UniProt peptide Q8TCJ0
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.379G>A
g.6765G>A
AA changes R38H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs10090550
databasehomozygous (A/A)heterozygousallele carriers
1000G9619221883
ExAC12964683919803
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0590.002
-0.010
(flanking)-0.5890
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6762wt: 0.5421 / mu: 0.5673 (marginal change - not scored)wt: GAATAACCGTTGTAA
mu: GAATAACCATTGTAA		 ATAA|ccgt
Donor increased6767wt: 0.42 / mu: 0.76wt: ACCGTTGTAACATCA
mu: ACCATTGTAACATCA		 CGTT|gtaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38SCSQKLERENNRCNISHSIILNSE
mutated  not conserved    38SCSQKLERENNHCNISHSIILNS
Ptroglodytes  not conserved  ENSPTRG00000019933  38SCSQKLERENNHCNISHSIILNS
Mmulatta  not conserved  ENSMMUG00000011105  38SCSQKLERENNHCNISHSIILNS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038365  38PCSHELRSEDSQYTINHSIILNS
Ggallus  all conserved  ENSGALG00000016359  38PFGPALQGGNSQLNDISHTVILTGGD
Trubripes  not conserved  ENSTRUG00000014872  38YYDHKLENNNSHLQLSSPKFCGD
Drerio  not conserved  ENSDARG00000075172  38YFSHKLGDNINELGLEE--LDND
Dmelanogaster  not conserved  FBgn0036196  38ECGGKRKRHHSEGSSSYQDSDSS
Celegans  not conserved  DY3.6  38LRPVQISSEPIFIPQVSSSPTLVS
Xtropicalis  not conserved  ENSXETG00000016768  38FYCD-YERDDN----FNLHLLNV
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with beta-actin.lost
8796CONFLICTIYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
121121CONFLICTR -> T (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
226274DOMAINF-box.might get lost (downstream of altered splice site)
244244MUTAGENS->L: Loss of SKP1-binding.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1077 / 1077
position (AA) of stopcodon in wt / mu AA sequence 359 / 359
position of stopcodon in wt / mu cDNA 1343 / 1343
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 267 / 267
chromosome 8
strand 1
last intron/exon boundary 1254
theoretical NMD boundary in CDS 937
length of CDS 1077
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 379
gDNA position
(for ins/del: last normal base / first normal base)		 6765
chromosomal position
(for ins/del: last normal base / first normal base)		 363192
original gDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered gDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
original cDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered cDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
wildtype AA sequence MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNRCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL
YRFSDGWDII TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
FALQKHYPAK EQYGDTLHFC RHCSILFWKD SGHPCTAADP DSCFTPVSPQ HFIDLFKF*
mutated AA sequence MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNHCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL
YRFSDGWDII TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
FALQKHYPAK EQYGDTLHFC RHCSILFWKD SGHPCTAADP DSCFTPVSPQ HFIDLFKF*
speed 1.38 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: 0.999999999999985 (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) chr8:363192G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXO25
Ensembl transcript ID ENST00000276326
Genbank transcript ID NM_183421
UniProt peptide Q8TCJ0
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.232G>A
g.6765G>A
AA changes R38H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs10090550
databasehomozygous (A/A)heterozygousallele carriers
1000G9619221883
ExAC12964683919803
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0590.002
-0.010
(flanking)-0.5890
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6762wt: 0.5421 / mu: 0.5673 (marginal change - not scored)wt: GAATAACCGTTGTAA
mu: GAATAACCATTGTAA		 ATAA|ccgt
Donor increased6767wt: 0.42 / mu: 0.76wt: ACCGTTGTAACATCA
mu: ACCATTGTAACATCA		 CGTT|gtaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38SCSQKLERENNRCNISHSIILNSE
mutated  not conserved    38SCSQKLERENNHCNISHSIILNS
Ptroglodytes  not conserved  ENSPTRG00000019933  38SCSQKLERENNHCNISHSIILNS
Mmulatta  not conserved  ENSMMUG00000011105  38SCSQKLERENNHCNISHSIILNS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038365  38PCSHELRSEDSQYTINHSIILNS
Ggallus  all conserved  ENSGALG00000016359  38PFGPALQGGNSQLNDISHTVILTGGD
Trubripes  not conserved  ENSTRUG00000014872  38YYDHKLENNNSHLQLSSPKFCGD
Drerio  not conserved  ENSDARG00000075172  38YFSHKLGDNINELGLEE--LDND
Dmelanogaster  not conserved  FBgn0036196  38ECGGKRKRHHSEGSSSYQDSDSS
Celegans  not conserved  DY3.6  38LRPVQISSEPIFIPQVSSSPTLVS
Xtropicalis  not conserved  ENSXETG00000016768  38FYCD-YERDDN----FNLHLLNV
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with beta-actin.lost
8796CONFLICTIYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
121121CONFLICTR -> T (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
226274DOMAINF-box.might get lost (downstream of altered splice site)
244244MUTAGENS->L: Loss of SKP1-binding.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1104 / 1104
position (AA) of stopcodon in wt / mu AA sequence 368 / 368
position of stopcodon in wt / mu cDNA 1223 / 1223
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 8
strand 1
last intron/exon boundary 1134
theoretical NMD boundary in CDS 964
length of CDS 1104
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 232
gDNA position
(for ins/del: last normal base / first normal base)		 6765
chromosomal position
(for ins/del: last normal base / first normal base)		 363192
original gDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered gDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
original cDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered cDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
wildtype AA sequence MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNRCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL
YRFSDGWDII TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
FALQKHYPAK EQYGDTLHFC RHCSILFWKD YHLALLFKDS GHPCTAADPD SCFTPVSPQH
FIDLFKF*
mutated AA sequence MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNHCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL
YRFSDGWDII TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
FALQKHYPAK EQYGDTLHFC RHCSILFWKD YHLALLFKDS GHPCTAADPD SCFTPVSPQH
FIDLFKF*
speed 1.42 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999985 (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) chr8:363192G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXO25
Ensembl transcript ID ENST00000447233
Genbank transcript ID N/A
UniProt peptide Q8TCJ0
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.138G>A
g.6765G>A
AA changes R38H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs10090550
databasehomozygous (A/A)heterozygousallele carriers
1000G9619221883
ExAC12964683919803
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0590.002
-0.010
(flanking)-0.5890
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6762wt: 0.5421 / mu: 0.5673 (marginal change - not scored)wt: GAATAACCGTTGTAA
mu: GAATAACCATTGTAA		 ATAA|ccgt
Donor increased6767wt: 0.42 / mu: 0.76wt: ACCGTTGTAACATCA
mu: ACCATTGTAACATCA		 CGTT|gtaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38SCSQKLERENNRCNISHSIILNSE
mutated  not conserved    38SCSQKLERENNHCNISHSIILNS
Ptroglodytes  not conserved  ENSPTRG00000019933  38SCSQKLERENNHCNISHSIILNS
Mmulatta  not conserved  ENSMMUG00000011105  38SCSQKLERENNHCNISHSIILNS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038365  38PCSHELRSEDSQYTINHSIILNS
Ggallus  all conserved  ENSGALG00000016359  38PFGPALQGGNSQLNDISHTVILTGGD
Trubripes  not conserved  ENSTRUG00000014872  38YYDHKLENNNSHLQLSSPKFCGD
Drerio  not conserved  ENSDARG00000075172  38YFSHKLGDNINELGLEE--LDND
Dmelanogaster  not conserved  FBgn0036196  38ECGGKRKRHHSEGSSSYQDSDSS
Celegans  not conserved  DY3.6  38LRPVQISSEPIFIPQVSSSPTLVS
Xtropicalis  not conserved  ENSXETG00000016768  38FYCD-YERDDN----FNLHLLNV
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with beta-actin.lost
8796CONFLICTIYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
121121CONFLICTR -> T (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
226274DOMAINF-box.might get lost (downstream of altered splice site)
244244MUTAGENS->L: Loss of SKP1-binding.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 993 / 993
position (AA) of stopcodon in wt / mu AA sequence 331 / 331
position of stopcodon in wt / mu cDNA 1018 / 1018
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 26 / 26
chromosome 8
strand 1
last intron/exon boundary 929
theoretical NMD boundary in CDS 853
length of CDS 993
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 138
gDNA position
(for ins/del: last normal base / first normal base)		 6765
chromosomal position
(for ins/del: last normal base / first normal base)		 363192
original gDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered gDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
original cDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered cDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
wildtype AA sequence MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNRCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLLSEDRQL
WKKLCQYHFA EKQFCRHLIL SEKGHIEWKL MYFALQKHYP AKEQYGDTLH FCRHCSILFW
KDSGHPCTAA DPDSCFTPVS PQHFIDLFKF *
mutated AA sequence MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNHCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLLSEDRQL
WKKLCQYHFA EKQFCRHLIL SEKGHIEWKL MYFALQKHYP AKEQYGDTLH FCRHCSILFW
KDSGHPCTAA DPDSCFTPVS PQHFIDLFKF *
speed 1.28 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: 0.999995182121095 (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) chr8:363192G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXO25
Ensembl transcript ID ENST00000382824
Genbank transcript ID N/A
UniProt peptide Q8TCJ0
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.121G>A
g.6765G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs10090550
databasehomozygous (A/A)heterozygousallele carriers
1000G9619221883
ExAC12964683919803
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0590.002
-0.010
(flanking)-0.5890
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -12) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased6762wt: 0.5421 / mu: 0.5673 (marginal change - not scored)wt: GAATAACCGTTGTAA
mu: GAATAACCATTGTAA		 ATAA|ccgt
Donor increased6767wt: 0.42 / mu: 0.76wt: ACCGTTGTAACATCA
mu: ACCATTGTAACATCA		 CGTT|gtaa
distance from splice site 22
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with beta-actin.might get lost (downstream of altered splice site)
8796CONFLICTIYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
121121CONFLICTR -> T (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
226274DOMAINF-box.might get lost (downstream of altered splice site)
244244MUTAGENS->L: Loss of SKP1-binding.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 160 / 160
chromosome 8
strand 1
last intron/exon boundary 946
theoretical NMD boundary in CDS 736
length of CDS 876
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 121
gDNA position
(for ins/del: last normal base / first normal base)		 6765
chromosomal position
(for ins/del: last normal base / first normal base)		 363192
original gDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered gDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
original cDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered cDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
wildtype AA sequence MEKYSIMKSM NMHRKKGKRT ILEMTQILKR HGYCTLGEAF NRLDFSSAIQ DIRRFNYVVK
LLQLIAKSQL TSLSGVAQKN YFNILDKIVQ KVLDDHHNPR LIKDLLQDLS STLCILIRGV
GKSVLVGNIN IWICRLETIL AWQQQLQDLQ MTKQVNNGLT LSDLPLHMLN NILYRFSDGW
DIITLGQVTP TLYMLSEDRQ LWKKLCQYHF AEKQFCRHLI LSEKGHIEWK LMYFALQKHY
PAKEQYGDTL HFCRHCSILF WKDSGHPCTA ADPDSCFTPV SPQHFIDLFK F*
mutated AA sequence N/A
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999995182121095 (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) chr8:363192G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXO25
Ensembl transcript ID ENST00000352684
Genbank transcript ID NM_012173
UniProt peptide Q8TCJ0
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.379G>A
g.6765G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs10090550
databasehomozygous (A/A)heterozygousallele carriers
1000G9619221883
ExAC12964683919803
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0590.002
-0.010
(flanking)-0.5890
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -12) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased6762wt: 0.5421 / mu: 0.5673 (marginal change - not scored)wt: GAATAACCGTTGTAA
mu: GAATAACCATTGTAA		 ATAA|ccgt
Donor increased6767wt: 0.42 / mu: 0.76wt: ACCGTTGTAACATCA
mu: ACCATTGTAACATCA		 CGTT|gtaa
distance from splice site 22
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with beta-actin.might get lost (downstream of altered splice site)
8796CONFLICTIYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
121121CONFLICTR -> T (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
226274DOMAINF-box.might get lost (downstream of altered splice site)
244244MUTAGENS->L: Loss of SKP1-binding.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 418 / 418
chromosome 8
strand 1
last intron/exon boundary 1204
theoretical NMD boundary in CDS 736
length of CDS 876
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 379
gDNA position
(for ins/del: last normal base / first normal base)		 6765
chromosomal position
(for ins/del: last normal base / first normal base)		 363192
original gDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered gDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
original cDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered cDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
wildtype AA sequence MEKYSIMKSM NMHRKKGKRT ILEMTQILKR HGYCTLGEAF NRLDFSSAIQ DIRRFNYVVK
LLQLIAKSQL TSLSGVAQKN YFNILDKIVQ KVLDDHHNPR LIKDLLQDLS STLCILIRGV
GKSVLVGNIN IWICRLETIL AWQQQLQDLQ MTKQVNNGLT LSDLPLHMLN NILYRFSDGW
DIITLGQVTP TLYMLSEDRQ LWKKLCQYHF AEKQFCRHLI LSEKGHIEWK LMYFALQKHY
PAKEQYGDTL HFCRHCSILF WKDSGHPCTA ADPDSCFTPV SPQHFIDLFK F*
mutated AA sequence N/A
speed 1.00 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems