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 4.190863 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TSBP1polymorphism_automatic1.92956761679852e-13simple_aaeY36Hsingle base exchangers9268384show file
TSBP1polymorphism_automatic1.92956761679852e-13simple_aaeY36Hsingle base exchangers9268384show file
TSBP1polymorphism_automatic1.92956761679852e-13simple_aaeY36Hsingle base exchangers9268384show file
TSBP1polymorphism_automatic1.92956761679852e-13simple_aaeY36Hsingle base exchangers9268384show file
TSBP1polymorphism_automatic1.92956761679852e-13simple_aaeY36Hsingle base exchangers9268384show file
TSBP1polymorphism_automatic1.92956761679852e-13simple_aaeY36Hsingle base exchangers9268384show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999807 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32336586A>GN/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 CDS
DNA changes c.106T>C
cDNA.299T>C
g.3099T>C
AA changes Y36H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs9268384
databasehomozygous (G/G)heterozygousallele carriers
1000G30610231329
ExAC104121194322355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7920.001
-0.7120
(flanking)-1.5130
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 increased3091wt: 0.9398 / mu: 0.9639 (marginal change - not scored)wt: CATTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGAT
mu: CATTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGAT		 ccac|AGAA
Acc marginally increased3093wt: 0.8649 / mu: 0.9080 (marginal change - not scored)wt: TTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGATAC
mu: TTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGATAC		 acag|AAAT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36TRWARCKQSEMYISRYSSEQSARL
mutated  all conserved    36TRWARCKQSEMHISRYSSEQSAR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000057246  39ARWSRRRNNGAGMSRFASEQSAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1407 / 1407
position (AA) of stopcodon in wt / mu AA sequence 469 / 469
position of stopcodon in wt / mu cDNA 1600 / 1600
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 106
cDNA position
(for ins/del: last normal base / first normal base)		 299
gDNA position
(for ins/del: last normal base / first normal base)		 3099
chromosomal position
(for ins/del: last normal base / first normal base)		 32336586
original gDNA sequence snippet CTAATTCTTCCACAGAAATGTATATCTCCAGATACAGTTCA
altered gDNA sequence snippet CTAATTCTTCCACAGAAATGCATATCTCCAGATACAGTTCA
original cDNA sequence snippet GATGTAAGCAAAGTGAAATGTATATCTCCAGATACAGTTCA
altered cDNA sequence snippet GATGTAAGCAAAGTGAAATGCATATCTCCAGATACAGTTCA
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 MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMHISRY 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*
speed 0.48 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: 0.999999999999807 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32336586A>GN/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.106T>C
cDNA.279T>C
g.3099T>C
AA changes Y36H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs9268384
databasehomozygous (G/G)heterozygousallele carriers
1000G30610231329
ExAC104121194322355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7920.001
-0.7120
(flanking)-1.5130
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 increased3091wt: 0.9398 / mu: 0.9639 (marginal change - not scored)wt: CATTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGAT
mu: CATTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGAT		 ccac|AGAA
Acc marginally increased3093wt: 0.8649 / mu: 0.9080 (marginal change - not scored)wt: TTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGATAC
mu: TTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGATAC		 acag|AAAT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36TRWARCKQSEMYISRYSSEQSARL
mutated  all conserved    36TRWARCKQSEMHISRYSSEQSAR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000057246  39ARWSRRRNNGAGMSRFASEQSAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
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 106
cDNA position
(for ins/del: last normal base / first normal base)		 279
gDNA position
(for ins/del: last normal base / first normal base)		 3099
chromosomal position
(for ins/del: last normal base / first normal base)		 32336586
original gDNA sequence snippet CTAATTCTTCCACAGAAATGTATATCTCCAGATACAGTTCA
altered gDNA sequence snippet CTAATTCTTCCACAGAAATGCATATCTCCAGATACAGTTCA
original cDNA sequence snippet GATGTAAGCAAAGTGAAATGTATATCTCCAGATACAGTTCA
altered cDNA sequence snippet GATGTAAGCAAAGTGAAATGCATATCTCCAGATACAGTTCA
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 KQSEMHISRY 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*
speed 1.08 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: 0.999999999999807 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32336586A>GN/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.106T>C
cDNA.307T>C
g.3099T>C
AA changes Y36H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs9268384
databasehomozygous (G/G)heterozygousallele carriers
1000G30610231329
ExAC104121194322355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7920.001
-0.7120
(flanking)-1.5130
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 increased3091wt: 0.9398 / mu: 0.9639 (marginal change - not scored)wt: CATTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGAT
mu: CATTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGAT		 ccac|AGAA
Acc marginally increased3093wt: 0.8649 / mu: 0.9080 (marginal change - not scored)wt: TTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGATAC
mu: TTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGATAC		 acag|AAAT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36TRWARCKQSEMYISRYSSEQSARL
mutated  all conserved    36TRWARCKQSEMHISRYSSEQSAR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000057246  39ARWSRRRNNGAGMSRFASEQSAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
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 106
cDNA position
(for ins/del: last normal base / first normal base)		 307
gDNA position
(for ins/del: last normal base / first normal base)		 3099
chromosomal position
(for ins/del: last normal base / first normal base)		 32336586
original gDNA sequence snippet CTAATTCTTCCACAGAAATGTATATCTCCAGATACAGTTCA
altered gDNA sequence snippet CTAATTCTTCCACAGAAATGCATATCTCCAGATACAGTTCA
original cDNA sequence snippet GATGTAAGCAAAGTGAAATGTATATCTCCAGATACAGTTCA
altered cDNA sequence snippet GATGTAAGCAAAGTGAAATGCATATCTCCAGATACAGTTCA
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 KQSEMHISRY 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*
speed 0.49 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: 0.999999999999807 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32336586A>GN/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.106T>C
cDNA.307T>C
g.3099T>C
AA changes Y36H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs9268384
databasehomozygous (G/G)heterozygousallele carriers
1000G30610231329
ExAC104121194322355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7920.001
-0.7120
(flanking)-1.5130
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 increased3091wt: 0.9398 / mu: 0.9639 (marginal change - not scored)wt: CATTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGAT
mu: CATTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGAT		 ccac|AGAA
Acc marginally increased3093wt: 0.8649 / mu: 0.9080 (marginal change - not scored)wt: TTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGATAC
mu: TTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGATAC		 acag|AAAT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36TRWARCKQSEMYISRYSSEQSARL
mutated  all conserved    36TRWARCKQSEMHISRYSSEQSAR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000057246  39ARWSRRRNNGAGMSRFASEQSAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
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 106
cDNA position
(for ins/del: last normal base / first normal base)		 307
gDNA position
(for ins/del: last normal base / first normal base)		 3099
chromosomal position
(for ins/del: last normal base / first normal base)		 32336586
original gDNA sequence snippet CTAATTCTTCCACAGAAATGTATATCTCCAGATACAGTTCA
altered gDNA sequence snippet CTAATTCTTCCACAGAAATGCATATCTCCAGATACAGTTCA
original cDNA sequence snippet GATGTAAGCAAAGTGAAATGTATATCTCCAGATACAGTTCA
altered cDNA sequence snippet GATGTAAGCAAAGTGAAATGCATATCTCCAGATACAGTTCA
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 KQSEMHISRY 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*
speed 0.48 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: 0.999999999999807 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32336586A>GN/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 CDS
DNA changes c.106T>C
cDNA.272T>C
g.3099T>C
AA changes Y36H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs9268384
databasehomozygous (G/G)heterozygousallele carriers
1000G30610231329
ExAC104121194322355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7920.001
-0.7120
(flanking)-1.5130
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 increased3091wt: 0.9398 / mu: 0.9639 (marginal change - not scored)wt: CATTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGAT
mu: CATTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGAT		 ccac|AGAA
Acc marginally increased3093wt: 0.8649 / mu: 0.9080 (marginal change - not scored)wt: TTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGATAC
mu: TTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGATAC		 acag|AAAT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36TRWARCKQSEMYISRYSSEQSARL
mutated  all conserved    36TRWARCKQSEMHISRYSSEQSAR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000057246  39ARWSRRRNNGAGMSRFASEQSAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1644 / 1644
position (AA) of stopcodon in wt / mu AA sequence 548 / 548
position of stopcodon in wt / mu cDNA 1810 / 1810
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 106
cDNA position
(for ins/del: last normal base / first normal base)		 272
gDNA position
(for ins/del: last normal base / first normal base)		 3099
chromosomal position
(for ins/del: last normal base / first normal base)		 32336586
original gDNA sequence snippet CTAATTCTTCCACAGAAATGTATATCTCCAGATACAGTTCA
altered gDNA sequence snippet CTAATTCTTCCACAGAAATGCATATCTCCAGATACAGTTCA
original cDNA sequence snippet GATGTAAGCAAAGTGAAATGTATATCTCCAGATACAGTTCA
altered cDNA sequence snippet GATGTAAGCAAAGTGAAATGCATATCTCCAGATACAGTTCA
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 MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMHISRY 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*
speed 0.76 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999807 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32336586A>GN/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 CDS
DNA changes c.106T>C
cDNA.279T>C
g.3099T>C
AA changes Y36H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs9268384
databasehomozygous (G/G)heterozygousallele carriers
1000G30610231329
ExAC104121194322355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7920.001
-0.7120
(flanking)-1.5130
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 increased3091wt: 0.9398 / mu: 0.9639 (marginal change - not scored)wt: CATTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGAT
mu: CATTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGAT		 ccac|AGAA
Acc marginally increased3093wt: 0.8649 / mu: 0.9080 (marginal change - not scored)wt: TTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGATAC
mu: TTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGATAC		 acag|AAAT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36TRWARCKQSEMYISRYSSEQSARL
mutated  all conserved    36TRWARCKQSEMHISRYSSEQSAR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000057246  39ARWSRRRNNGAGMSRFASEQSAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
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 1859 / 1859
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 106
cDNA position
(for ins/del: last normal base / first normal base)		 279
gDNA position
(for ins/del: last normal base / first normal base)		 3099
chromosomal position
(for ins/del: last normal base / first normal base)		 32336586
original gDNA sequence snippet CTAATTCTTCCACAGAAATGTATATCTCCAGATACAGTTCA
altered gDNA sequence snippet CTAATTCTTCCACAGAAATGCATATCTCCAGATACAGTTCA
original cDNA sequence snippet GATGTAAGCAAAGTGAAATGTATATCTCCAGATACAGTTCA
altered cDNA sequence snippet GATGTAAGCAAAGTGAAATGCATATCTCCAGATACAGTTCA
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 MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMHISRY 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*
speed 0.60 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