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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000442822
Querying Taster for transcript #2: ENST00000447241
Querying Taster for transcript #3: ENST00000375015
Querying Taster for transcript #4: ENST00000533191
Querying Taster for transcript #5: ENST00000527965
Querying Taster for transcript #6: ENST00000375007
MT speed 0 s - this script 4.934154 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TSBP1polymorphism_automatic3.6210079046306e-08simple_aaeaffectedY69Csingle base exchangers9268368show file
TSBP1polymorphism_automatic3.6210079046306e-08simple_aaeaffectedY69Csingle base exchangers9268368show file
TSBP1polymorphism_automatic5.64204359898568e-08simple_aaeaffectedY69Csingle base exchangers9268368show file
TSBP1polymorphism_automatic3.47390367270162e-05without_aaeaffectedsingle base exchangers9268368show file
TSBP1polymorphism_automatic3.47390367270162e-05without_aaeaffectedsingle base exchangers9268368show file
TSBP1polymorphism_automatic3.47390367270162e-05without_aaeaffectedsingle base exchangers9268368show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999963789921 (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) chr6:32333955T>CN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000533191
Genbank transcript ID N/A
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region CDS
DNA changes c.206A>G
cDNA.407A>G
g.5730A>G
AA changes Y69C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs9268368
databasehomozygous (C/C)heterozygousallele carriers
1000G30710221329
ExAC106141153922153
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3050.334
0.030.323
(flanking)00.331
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 increased5731wt: 0.8651 / mu: 0.8766 (marginal change - not scored)wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT
mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT		 atat|GATA
Acc increased5729wt: 0.59 / mu: 0.85wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT
mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT		 tcat|ATGA
Acc increased5724wt: 0.40 / mu: 0.48wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA
mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA		 acac|TTCA
Acc marginally increased5720wt: 0.8604 / mu: 0.8792 (marginal change - not scored)wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA
mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA		 ctag|ACAC
Donor gained57240.73mu: AGACACTTCATGTGA ACAC|ttca
Donor gained57290.36mu: CTTCATGTGATAACC TCAT|gtga
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69RHAYSTQSDTSYDNRERSKRDYTP
mutated  not conserved    69YSTQSDTSCDNRERSKRDYT
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000057246  63SHGRHKRRGKQFRFLC
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
99119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
326326MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
328328MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474560COMPBIASLys-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1686 / 1686
position (AA) of stopcodon in wt / mu AA sequence 562 / 562
position of stopcodon in wt / mu cDNA 1887 / 1887
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 202 / 202
chromosome 6
strand -1
last intron/exon boundary 833
theoretical NMD boundary in CDS 581
length of CDS 1686
coding sequence (CDS) position 206
cDNA position
(for ins/del: last normal base / first normal base)		 407
gDNA position
(for ins/del: last normal base / first normal base)		 5730
chromosomal position
(for ins/del: last normal base / first normal base)		 32333955
original gDNA sequence snippet CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA
altered gDNA sequence snippet CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA
original cDNA sequence snippet AACACAAAGTGACACTTCATATGATAACCGAGAGAGATCCA
altered cDNA sequence snippet AACACAAAGTGACACTTCATGTGATAACCGAGAGAGATCCA
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSYD NRERSKRDYT PSTNSLALSR SSIALPQGSM SSIKCLQTTE EPPSRTAGAM
MQFTAPIPGA TGPIKLSQKT IVQTPGPIVQ YPGSNAGPPS APRGPPMAPI IISQRTASQL
AAPIIISQRT ARIPQVHTMD SSGKITLTPV VILTGYMDEE LAKKSCSKIQ ILKCGGTARS
QNSREENKEA LKNDIIFTNS VESLKSAHIK EPEREGKGTD LEKDKIGMEV KVDSDAGIPK
RQETQLKISE MSIPQGQGAQ IKKSVSDVPR GQESQVKKSE SGVPKGQEAQ VTKSGLVVLK
GQEAQVEKSE MGVPRRQESQ VKKSQSGVSK GQEAQVKKRE SVVLKGQEAQ VEKSELKVPK
GQEGQVEKTE ADVPKEQEVQ EKKSEAGVLK GPESQVKNTE VSVPETLESQ VKKSESGVLK
GQEAQEKKES FEDKGNNDKE KERDAEKDPN KKEKGDKNTK GDKGKDKVKG KRESEINGEK
SKGSKRAKAN TGRKYNKKVE E*
mutated AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSCD NRERSKRDYT PSTNSLALSR SSIALPQGSM SSIKCLQTTE EPPSRTAGAM
MQFTAPIPGA TGPIKLSQKT IVQTPGPIVQ YPGSNAGPPS APRGPPMAPI IISQRTASQL
AAPIIISQRT ARIPQVHTMD SSGKITLTPV VILTGYMDEE LAKKSCSKIQ ILKCGGTARS
QNSREENKEA LKNDIIFTNS VESLKSAHIK EPEREGKGTD LEKDKIGMEV KVDSDAGIPK
RQETQLKISE MSIPQGQGAQ IKKSVSDVPR GQESQVKKSE SGVPKGQEAQ VTKSGLVVLK
GQEAQVEKSE MGVPRRQESQ VKKSQSGVSK GQEAQVKKRE SVVLKGQEAQ VEKSELKVPK
GQEGQVEKTE ADVPKEQEVQ EKKSEAGVLK GPESQVKNTE VSVPETLESQ VKKSESGVLK
GQEAQEKKES FEDKGNNDKE KERDAEKDPN KKEKGDKNTK GDKGKDKVKG KRESEINGEK
SKGSKRAKAN TGRKYNKKVE E*
speed 1.05 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: 0.999999963789921 (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) chr6:32333955T>CN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000375015
Genbank transcript ID N/A
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region CDS
DNA changes c.206A>G
cDNA.407A>G
g.5730A>G
AA changes Y69C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs9268368
databasehomozygous (C/C)heterozygousallele carriers
1000G30710221329
ExAC106141153922153
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3050.334
0.030.323
(flanking)00.331
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 increased5731wt: 0.8651 / mu: 0.8766 (marginal change - not scored)wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT
mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT		 atat|GATA
Acc increased5729wt: 0.59 / mu: 0.85wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT
mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT		 tcat|ATGA
Acc increased5724wt: 0.40 / mu: 0.48wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA
mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA		 acac|TTCA
Acc marginally increased5720wt: 0.8604 / mu: 0.8792 (marginal change - not scored)wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA
mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA		 ctag|ACAC
Donor gained57240.73mu: AGACACTTCATGTGA ACAC|ttca
Donor gained57290.36mu: CTTCATGTGATAACC TCAT|gtga
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69RHAYSTQSDTSYDNRERSKRDYTP
mutated  not conserved    69YSTQSDTSCDNRERSKRDYT
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000057246  63SHGRHKRRGKQFRFLC
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
99119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
326326MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
328328MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474560COMPBIASLys-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1689 / 1689
position (AA) of stopcodon in wt / mu AA sequence 563 / 563
position of stopcodon in wt / mu cDNA 1890 / 1890
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 202 / 202
chromosome 6
strand -1
last intron/exon boundary 836
theoretical NMD boundary in CDS 584
length of CDS 1689
coding sequence (CDS) position 206
cDNA position
(for ins/del: last normal base / first normal base)		 407
gDNA position
(for ins/del: last normal base / first normal base)		 5730
chromosomal position
(for ins/del: last normal base / first normal base)		 32333955
original gDNA sequence snippet CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA
altered gDNA sequence snippet CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA
original cDNA sequence snippet AACACAAAGTGACACTTCATATGATAACCGAGAGAGATCCA
altered cDNA sequence snippet AACACAAAGTGACACTTCATGTGATAACCGAGAGAGATCCA
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSYD NRERSKRDYT PSTNSLALSR SSIALPQGSM SSIKCLQTTE EPPSRTAGAM
MQFTAPIPGA TGPIKLSQKT IVQTPGPIVQ YPGSNVRSHP HTITGPPSAP RGPPMAPIII
SQRTASQLAA PIRIPQVHTM DSSGKITLTP VVILTGYMDE ELAKKSCSKI QILKCGGTAR
SQNSREENKE ALKNDIIFTN SVESLKSAHI KEPEREGKGT DLEKDKIGME VKVDSDAGIP
KRQETQLKIS EMSIPQGQGA QIKKSVSDVP RGQESQVKKS ESGVPKGQEA QVTKSGLVVL
KGQEAQVEKS EMGVPRRQES QVKKSQSGVS KGQEAQVKKR ESVVLKGQEA QVEKSELKVP
KGQEGQVEKT EADVPKEQEV QEKKSEAGVL KGPESQVKNT EVSVPETLES QVKKSESGVL
KGQEAQEKKE SFEDKGNNDK EKERDAEKDP NKKEKGDKNT KGDKGKDKVK GKRESEINGE
KSKGSKRAKA NTGRKYNKKV EE*
mutated AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSCD NRERSKRDYT PSTNSLALSR SSIALPQGSM SSIKCLQTTE EPPSRTAGAM
MQFTAPIPGA TGPIKLSQKT IVQTPGPIVQ YPGSNVRSHP HTITGPPSAP RGPPMAPIII
SQRTASQLAA PIRIPQVHTM DSSGKITLTP VVILTGYMDE ELAKKSCSKI QILKCGGTAR
SQNSREENKE ALKNDIIFTN SVESLKSAHI KEPEREGKGT DLEKDKIGME VKVDSDAGIP
KRQETQLKIS EMSIPQGQGA QIKKSVSDVP RGQESQVKKS ESGVPKGQEA QVTKSGLVVL
KGQEAQVEKS EMGVPRRQES QVKKSQSGVS KGQEAQVKKR ESVVLKGQEA QVEKSELKVP
KGQEGQVEKT EADVPKEQEV QEKKSEAGVL KGPESQVKNT EVSVPETLES QVKKSESGVL
KGQEAQEKKE SFEDKGNNDK EKERDAEKDP NKKEKGDKNT KGDKGKDKVK GKRESEINGE
KSKGSKRAKA NTGRKYNKKV EE*
speed 1.06 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: 0.999999943579564 (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) chr6:32333955T>CN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000447241
Genbank transcript ID NM_006781
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region CDS
DNA changes c.206A>G
cDNA.379A>G
g.5730A>G
AA changes Y69C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs9268368
databasehomozygous (C/C)heterozygousallele carriers
1000G30710221329
ExAC106141153922153
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3050.334
0.030.323
(flanking)00.331
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 increased5731wt: 0.8651 / mu: 0.8766 (marginal change - not scored)wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT
mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT		 atat|GATA
Acc increased5729wt: 0.59 / mu: 0.85wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT
mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT		 tcat|ATGA
Acc increased5724wt: 0.40 / mu: 0.48wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA
mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA		 acac|TTCA
Acc marginally increased5720wt: 0.8604 / mu: 0.8792 (marginal change - not scored)wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA
mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA		 ctag|ACAC
Donor gained57240.73mu: AGACACTTCATGTGA ACAC|ttca
Donor gained57290.36mu: CTTCATGTGATAACC TCAT|gtga
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69RHAYSTQSDTSYDNRERSKRDYTP
mutated  not conserved    69YSTQSDTSCDNRERSKRDYT
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000057246  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
99119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
326326MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
328328MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474560COMPBIASLys-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1692 / 1692
position (AA) of stopcodon in wt / mu AA sequence 564 / 564
position of stopcodon in wt / mu cDNA 1865 / 1865
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 174 / 174
chromosome 6
strand -1
last intron/exon boundary 811
theoretical NMD boundary in CDS 587
length of CDS 1692
coding sequence (CDS) position 206
cDNA position
(for ins/del: last normal base / first normal base)		 379
gDNA position
(for ins/del: last normal base / first normal base)		 5730
chromosomal position
(for ins/del: last normal base / first normal base)		 32333955
original gDNA sequence snippet CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA
altered gDNA sequence snippet CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA
original cDNA sequence snippet AACACAAAGTGACACTTCATATGATAACCGAGAGAGATCCA
altered cDNA sequence snippet AACACAAAGTGACACTTCATGTGATAACCGAGAGAGATCCA
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSYD NRERSKRDYT PSTNSLVSMA SKFSLGQTEL ILLLMCFILA LSRSSIGSIK
CLQTTEEPPS RTAGAMMQFT APIPGATGPI KLSQKTIVQT PGPIVQYPGS NAGPPSAPRG
PPMAPIIISQ RTARIPQVHT MDSSGKITLT PVVILTGYMD EELAKKSCSK IQILKCGGTA
RSQNSREENK EALKNDIIFT NSVESLKSAH IKEPEREGKG TDLEKDKIGM EVKVDSDAGI
PKRQETQLKI SEMSIPQGQG AQIKKSVSDV PRGQESQVKK SESGVPKGQE AQVTKSGLVV
LKGQEAQVEK SEMGVPRRQE SQVKKSQSGV SKGQEAQVKK RESVVLKGQE AQVEKSELKV
PKGQEGQVEK TEADVPKEQE VQEKKSEAGV LKGPESQVKN TEVSVPETLE SQVKKSESGV
LKGQEAQEKK ESFEDKGNND KEKERDAEKD PNKKEKGDKN TKGDKGKDKV KGKRESEING
EKSKGSKRAK ANTGRKYNKK VEE*
mutated AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSCD NRERSKRDYT PSTNSLVSMA SKFSLGQTEL ILLLMCFILA LSRSSIGSIK
CLQTTEEPPS RTAGAMMQFT APIPGATGPI KLSQKTIVQT PGPIVQYPGS NAGPPSAPRG
PPMAPIIISQ RTARIPQVHT MDSSGKITLT PVVILTGYMD EELAKKSCSK IQILKCGGTA
RSQNSREENK EALKNDIIFT NSVESLKSAH IKEPEREGKG TDLEKDKIGM EVKVDSDAGI
PKRQETQLKI SEMSIPQGQG AQIKKSVSDV PRGQESQVKK SESGVPKGQE AQVTKSGLVV
LKGQEAQVEK SEMGVPRRQE SQVKKSQSGV SKGQEAQVKK RESVVLKGQE AQVEKSELKV
PKGQEGQVEK TEADVPKEQE VQEKKSEAGV LKGPESQVKN TEVSVPETLE SQVKKSESGV
LKGQEAQEKK ESFEDKGNND KEKERDAEKD PNKKEKGDKN TKGDKGKDKV KGKRESEING
EKSKGSKRAK ANTGRKYNKK VEE*
speed 1.30 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: 0.999965260963273 (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) chr6:32333955T>CN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000442822
Genbank transcript ID N/A
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region intron
DNA changes g.5730A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs9268368
databasehomozygous (C/C)heterozygousallele carriers
1000G30710221329
ExAC106141153922153
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3050.334
0.030.323
(flanking)00.331
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 increased5731wt: 0.8651 / mu: 0.8766 (marginal change - not scored)wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT
mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT		 atat|GATA
Acc increased5729wt: 0.59 / mu: 0.85wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT
mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT		 tcat|ATGA
Acc increased5724wt: 0.40 / mu: 0.48wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA
mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA		 acac|TTCA
Acc marginally increased5720wt: 0.8604 / mu: 0.8792 (marginal change - not scored)wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA
mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA		 ctag|ACAC
Donor gained57240.73mu: AGACACTTCATGTGA ACAC|ttca
Donor gained57290.36mu: CTTCATGTGATAACC TCAT|gtga
distance from splice site 95
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
99119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
326326MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
328328MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474560COMPBIASLys-rich.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 194 / 194
chromosome 6
strand -1
last intron/exon boundary 1553
theoretical NMD boundary in CDS 1309
length of CDS 1407
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)		 5730
chromosomal position
(for ins/del: last normal base / first normal base)		 32333955
original gDNA sequence snippet CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA
altered gDNA sequence snippet CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSERSKR DYTPSTNSLA LSRSSIALPQ GSMSSIKCLQ TTEEPPSRTA GAMMQFTAPI
PGATGPIKLS QKTIVQTPGP IVQYPGSNAG PPSAPRGPPM APIIISQRTA SQLAAPIIIS
QRTARIPQVH TMDSSGKITL TPVVILTGYM DEELAKKSCS KIQILKCGGT ARSQNSREEN
KEALKNDIIF TNSVESLKSA HIKEPEREGK GTDLEKDKIG MEVKVDSDAG IPKRQETQLK
ISEMSIPQGQ GAQIKKSVSD VPRGQESQVK KSESGVPKGQ EAQVTKSGLV VLKGQEAQVE
KSEMGVPRRQ ESQVKKSQSG VSKGQEAQVK KRESVVLKGQ EAQVEKSELK VPKGQEGQVE
KTEADVPKEQ EVQEKKSEAG VLKGPESQVK NTECFRNKDT LIYHHPEA*
mutated AA sequence N/A
speed 1.07 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: 0.999965260963273 (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) chr6:32333955T>CN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000527965
Genbank transcript ID N/A
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region intron
DNA changes g.5730A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs9268368
databasehomozygous (C/C)heterozygousallele carriers
1000G30710221329
ExAC106141153922153
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3050.334
0.030.323
(flanking)00.331
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 increased5731wt: 0.8651 / mu: 0.8766 (marginal change - not scored)wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT
mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT		 atat|GATA
Acc increased5729wt: 0.59 / mu: 0.85wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT
mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT		 tcat|ATGA
Acc increased5724wt: 0.40 / mu: 0.48wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA
mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA		 acac|TTCA
Acc marginally increased5720wt: 0.8604 / mu: 0.8792 (marginal change - not scored)wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA
mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA		 ctag|ACAC
Donor gained57240.73mu: AGACACTTCATGTGA ACAC|ttca
Donor gained57290.36mu: CTTCATGTGATAACC TCAT|gtga
distance from splice site 95
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
99119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
326326MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
328328MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474560COMPBIASLys-rich.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 167 / 167
chromosome 6
strand -1
last intron/exon boundary 756
theoretical NMD boundary in CDS 539
length of CDS 1644
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)		 5730
chromosomal position
(for ins/del: last normal base / first normal base)		 32333955
original gDNA sequence snippet CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA
altered gDNA sequence snippet CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSERSKR DYTPSTNSLA LSRSSIALPQ GSMSSIKCLQ TTEEPPSRTA GAMMQFTAPI
PGATGPIKLS QKTIVQTPGP IVQYPGSNAG PPSAPRGPPM APIIISQRTA SQLAAPIRIP
QVHTMDSSGK ITLTPVVILT GYMDEELAKK SCSKIQILKC GGTARSQNSR EENKEALKND
IIFTNSVESL KSAHIKEPER EGKGTDLEKD KIGMEVKVDS DAGIPKRQET QLKISEMSIP
QGQGAQIKKS VSDVPRGQES QVKKSESGVP KGQEAQVTKS GLVVLKGQEA QVEKSEMGVP
RRQESQVKKS QSGVSKGQEA QVKKRESVVL KGQEAQVEKS ELKVPKGQEG QVEKTEADVP
KEQEVQEKKS EAGVLKGPES QVKNTEVSVP ETLESQVKKS ESGVLKGQEA QEKKESFEDK
GNNDKEKERD AEKDPNKKEK GDKNTKGDKG KDKVKGKRES EINGEKSKGS KRAKANTGRK
YNKKVEE*
mutated AA sequence N/A
speed 0.86 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: 0.999965260963273 (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) chr6:32333955T>CN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000375007
Genbank transcript ID N/A
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region intron
DNA changes g.5730A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs9268368
databasehomozygous (C/C)heterozygousallele carriers
1000G30710221329
ExAC106141153922153
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3050.334
0.030.323
(flanking)00.331
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 increased5731wt: 0.8651 / mu: 0.8766 (marginal change - not scored)wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT
mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT		 atat|GATA
Acc increased5729wt: 0.59 / mu: 0.85wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT
mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT		 tcat|ATGA
Acc increased5724wt: 0.40 / mu: 0.48wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA
mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA		 acac|TTCA
Acc marginally increased5720wt: 0.8604 / mu: 0.8792 (marginal change - not scored)wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA
mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA		 ctag|ACAC
Donor gained57240.73mu: AGACACTTCATGTGA ACAC|ttca
Donor gained57290.36mu: CTTCATGTGATAACC TCAT|gtga
distance from splice site 91
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
99119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
326326MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
328328MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474560COMPBIASLys-rich.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 174 / 174
chromosome 6
strand -1
last intron/exon boundary 805
theoretical NMD boundary in CDS 581
length of CDS 1686
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)		 5730
chromosomal position
(for ins/del: last normal base / first normal base)		 32333955
original gDNA sequence snippet CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA
altered gDNA sequence snippet CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSGNLCF QRSKRDYTPS TNSLVSMASK FSLGQTELIL LLMCFILALS RSSIGSIKCL
QTTEEPPSRT AGAMMQFTAP IPGATGPIKL SQKTIVQTPG PIVQYPGSNA GPPSAPRGPP
MAPIIISQRT ARIPQVHTMD SSGKITLTPV VILTGYMDEE LAKKSCSKIQ ILKCGGTARS
QNSREENKEA LKNDIIFTNS VESLKSAHIK EPEREGKGTD LEKDKIGMEV KVDSDAGIPK
RQETQLKISE MSIPQGQGAQ IKKSVSDVPR GQESQVKKSE SGVPKGQEAQ VTKSGLVVLK
GQEAQVEKSE MGVPRRQESQ VKKSQSGVSK GQEAQVKKRE SVVLKGQEAQ VEKSELKVPK
GQEGQVEKTE ADVPKEQEVQ EKKSEAGVLK GPESQVKNTE VSVPETLESQ VKKSESGVLK
GQEAQEKKES FEDKGNNDKE KERDAEKDPN KKEKGDKNTK GDKGKDKVKG KRESEINGEK
SKGSKRAKAN TGRKYNKKVE E*
mutated AA sequence N/A
speed 0.29 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