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: ENST00000540354
Querying Taster for transcript #2: ENST00000266509
Querying Taster for transcript #3: ENST00000545102
Querying Taster for transcript #4: ENST00000545604
Querying Taster for transcript #5: ENST00000381552
MT speed 6.99 s - this script 8.457485 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SLCO1C1polymorphism_automatic0.618765319582112simple_aaeS677Fsingle base exchangers6487138show file
SLCO1C1polymorphism_automatic0.618765319582112simple_aaeS677Fsingle base exchangers6487138show file
SLCO1C1polymorphism_automatic0.740780375744748simple_aaeS559Fsingle base exchangers6487138show file
SLCO1C1polymorphism_automatic1without_aaesingle base exchangers6487138show file
SLCO1C1polymorphism_automatic1without_aaesingle base exchangers6487138show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.381234680417888 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:20905250C>TN/A show variant in all transcripts   IGV
HGNC symbol SLCO1C1
Ensembl transcript ID ENST00000545604
Genbank transcript ID NM_001145946
UniProt peptide Q9NYB5
alteration type single base exchange
alteration region CDS
DNA changes c.2030C>T
cDNA.2385C>T
g.56962C>T
AA changes S677F Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS
677
frameshift no
known variant Reference ID: rs6487138
databasehomozygous (T/T)heterozygousallele carriers
1000G62710971724
ExAC17515-226315252
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0110.997
4.0591
(flanking)3.3741
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 increased56953wt: 0.6612 / mu: 0.6965 (marginal change - not scored)wt: AGATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACT
mu: AGATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACT
 agac|ATAT
Acc marginally increased56959wt: 0.3579 / mu: 0.3846 (marginal change - not scored)wt: TCTCTTCTTCTAGACATATATATCTGGGACTAACTGTGATA
mu: TCTCTTCTTCTAGACATATATATTTGGGACTAACTGTGATA
 atat|ATCT
Acc marginally increased56955wt: 0.9031 / mu: 0.9324 (marginal change - not scored)wt: ATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACTGT
mu: ATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACTGT
 acat|ATAT
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      677SCHFTACKTYISGTNCDTGHSVNS
mutated  not conserved    677SCHFTACKTYIFGTNCDTGHSVN
Ptroglodytes  all identical  ENSPTRG00000004749  677SCHFTACKTYISGTNCDTGHSVN
Mmulatta  no alignment  ENSMMUG00000008271  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000030235  n/a
Ggallus  no alignment  ENSGALG00000013154  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000016749  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000030963  n/a
protein features
start (aa)end (aa)featuredetails 
665712TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2193 / 2193
position (AA) of stopcodon in wt / mu AA sequence 731 / 731
position of stopcodon in wt / mu cDNA 2548 / 2548
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 356 / 356
chromosome 12
strand 1
last intron/exon boundary 2375
theoretical NMD boundary in CDS 1969
length of CDS 2193
coding sequence (CDS) position 2030
cDNA position
(for ins/del: last normal base / first normal base)
2385
gDNA position
(for ins/del: last normal base / first normal base)
56962
chromosomal position
(for ins/del: last normal base / first normal base)
20905250
original gDNA sequence snippet CTTCTTCTAGACATATATATCTGGGACTAACTGTGATACTG
altered gDNA sequence snippet CTTCTTCTAGACATATATATTTGGGACTAACTGTGATACTG
original cDNA sequence snippet TGCTTGTAAGACATATATATCTGGGACTAACTGTGATACTG
altered cDNA sequence snippet TGCTTGTAAGACATATATATTTGGGACTAACTGTGATACTG
wildtype AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNECEV
DTSSSMWIYV FLGNLLRGIG ETPIQPLGIA YLDDFASEDN AAFYIGCVQT VAIIGPIFGF
LLGSLCAKLY VDIGFVNLDH ITITPKDPQW VGAWWLGYLI AGIISLLAAV PFWYLPKSLP
RSQSREDSNS SSEKSKFIID DHTDYQTPQG ENAKIMEMAR DFLPSLKNLF GNPVYFLYLC
TSTVQFNSLF GMVTYKPKYI EQQYGQSSSR ANFVIGLINI PAVALGIFSG GIVMKKFRIS
VCGAAKLYLG SSVFGYLLFL SLFALGCENS DVAGLTVSYQ GTKPVSYHER ALFSDCNSRC
KCSETKWEPM CGENGITYVS ACLAGCQTSN RSGKNIIFYN CTCVGIAASK SGNSSGIVGR
CQKDNGCPQM FLYFLVISVI TSYTLSLGGI PGYILLLRCI KPQLKSFALG IYTLAIRVLA
GIPAPVYFGV LIDTSCLKWG FKRCGSRGSC RLYDSNVFRY QIKSIPASHC YSIPDLHNAT
DTNKFSCHFT ACKTYISGTN CDTGHSVNSP KHCSTFHFKE KLCFKTQKFY NQERKNNGVY
KIPKGKLHYK *
mutated AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNECEV
DTSSSMWIYV FLGNLLRGIG ETPIQPLGIA YLDDFASEDN AAFYIGCVQT VAIIGPIFGF
LLGSLCAKLY VDIGFVNLDH ITITPKDPQW VGAWWLGYLI AGIISLLAAV PFWYLPKSLP
RSQSREDSNS SSEKSKFIID DHTDYQTPQG ENAKIMEMAR DFLPSLKNLF GNPVYFLYLC
TSTVQFNSLF GMVTYKPKYI EQQYGQSSSR ANFVIGLINI PAVALGIFSG GIVMKKFRIS
VCGAAKLYLG SSVFGYLLFL SLFALGCENS DVAGLTVSYQ GTKPVSYHER ALFSDCNSRC
KCSETKWEPM CGENGITYVS ACLAGCQTSN RSGKNIIFYN CTCVGIAASK SGNSSGIVGR
CQKDNGCPQM FLYFLVISVI TSYTLSLGGI PGYILLLRCI KPQLKSFALG IYTLAIRVLA
GIPAPVYFGV LIDTSCLKWG FKRCGSRGSC RLYDSNVFRY QIKSIPASHC YSIPDLHNAT
DTNKFSCHFT ACKTYIFGTN CDTGHSVNSP KHCSTFHFKE KLCFKTQKFY NQERKNNGVY
KIPKGKLHYK *
speed 1.32 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: 0.381234680417888 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:20905250C>TN/A show variant in all transcripts   IGV
HGNC symbol SLCO1C1
Ensembl transcript ID ENST00000381552
Genbank transcript ID N/A
UniProt peptide Q9NYB5
alteration type single base exchange
alteration region CDS
DNA changes c.2030C>T
cDNA.2398C>T
g.56962C>T
AA changes S677F Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS
677
frameshift no
known variant Reference ID: rs6487138
databasehomozygous (T/T)heterozygousallele carriers
1000G62710971724
ExAC17515-226315252
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0110.997
4.0591
(flanking)3.3741
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 increased56953wt: 0.6612 / mu: 0.6965 (marginal change - not scored)wt: AGATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACT
mu: AGATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACT
 agac|ATAT
Acc marginally increased56959wt: 0.3579 / mu: 0.3846 (marginal change - not scored)wt: TCTCTTCTTCTAGACATATATATCTGGGACTAACTGTGATA
mu: TCTCTTCTTCTAGACATATATATTTGGGACTAACTGTGATA
 atat|ATCT
Acc marginally increased56955wt: 0.9031 / mu: 0.9324 (marginal change - not scored)wt: ATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACTGT
mu: ATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACTGT
 acat|ATAT
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      677SCHFTACKTYISGTNCDTGHSVNS
mutated  not conserved    677SCHFTACKTYIFGTNCDTGHSVN
Ptroglodytes  all identical  ENSPTRG00000004749  677SCHFTACKTYISGTNCDTGHSVN
Mmulatta  no alignment  ENSMMUG00000008271  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000030235  n/a
Ggallus  no alignment  ENSGALG00000013154  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000016749  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000030963  n/a
protein features
start (aa)end (aa)featuredetails 
665712TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2193 / 2193
position (AA) of stopcodon in wt / mu AA sequence 731 / 731
position of stopcodon in wt / mu cDNA 2561 / 2561
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 369 / 369
chromosome 12
strand 1
last intron/exon boundary 2388
theoretical NMD boundary in CDS 1969
length of CDS 2193
coding sequence (CDS) position 2030
cDNA position
(for ins/del: last normal base / first normal base)
2398
gDNA position
(for ins/del: last normal base / first normal base)
56962
chromosomal position
(for ins/del: last normal base / first normal base)
20905250
original gDNA sequence snippet CTTCTTCTAGACATATATATCTGGGACTAACTGTGATACTG
altered gDNA sequence snippet CTTCTTCTAGACATATATATTTGGGACTAACTGTGATACTG
original cDNA sequence snippet TGCTTGTAAGACATATATATCTGGGACTAACTGTGATACTG
altered cDNA sequence snippet TGCTTGTAAGACATATATATTTGGGACTAACTGTGATACTG
wildtype AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNECEV
DTSSSMWIYV FLGNLLRGIG ETPIQPLGIA YLDDFASEDN AAFYIGCVQT VAIIGPIFGF
LLGSLCAKLY VDIGFVNLDH ITITPKDPQW VGAWWLGYLI AGIISLLAAV PFWYLPKSLP
RSQSREDSNS SSEKSKFIID DHTDYQTPQG ENAKIMEMAR DFLPSLKNLF GNPVYFLYLC
TSTVQFNSLF GMVTYKPKYI EQQYGQSSSR ANFVIGLINI PAVALGIFSG GIVMKKFRIS
VCGAAKLYLG SSVFGYLLFL SLFALGCENS DVAGLTVSYQ GTKPVSYHER ALFSDCNSRC
KCSETKWEPM CGENGITYVS ACLAGCQTSN RSGKNIIFYN CTCVGIAASK SGNSSGIVGR
CQKDNGCPQM FLYFLVISVI TSYTLSLGGI PGYILLLRCI KPQLKSFALG IYTLAIRVLA
GIPAPVYFGV LIDTSCLKWG FKRCGSRGSC RLYDSNVFRY QIKSIPASHC YSIPDLHNAT
DTNKFSCHFT ACKTYISGTN CDTGHSVNSP KHCSTFHFKE KLCFKTQKFY NQERKNNGVY
KIPKGKLHYK *
mutated AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNECEV
DTSSSMWIYV FLGNLLRGIG ETPIQPLGIA YLDDFASEDN AAFYIGCVQT VAIIGPIFGF
LLGSLCAKLY VDIGFVNLDH ITITPKDPQW VGAWWLGYLI AGIISLLAAV PFWYLPKSLP
RSQSREDSNS SSEKSKFIID DHTDYQTPQG ENAKIMEMAR DFLPSLKNLF GNPVYFLYLC
TSTVQFNSLF GMVTYKPKYI EQQYGQSSSR ANFVIGLINI PAVALGIFSG GIVMKKFRIS
VCGAAKLYLG SSVFGYLLFL SLFALGCENS DVAGLTVSYQ GTKPVSYHER ALFSDCNSRC
KCSETKWEPM CGENGITYVS ACLAGCQTSN RSGKNIIFYN CTCVGIAASK SGNSSGIVGR
CQKDNGCPQM FLYFLVISVI TSYTLSLGGI PGYILLLRCI KPQLKSFALG IYTLAIRVLA
GIPAPVYFGV LIDTSCLKWG FKRCGSRGSC RLYDSNVFRY QIKSIPASHC YSIPDLHNAT
DTNKFSCHFT ACKTYIFGTN CDTGHSVNSP KHCSTFHFKE KLCFKTQKFY NQERKNNGVY
KIPKGKLHYK *
speed 1.37 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: 0.259219624255252 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:20905250C>TN/A show variant in all transcripts   IGV
HGNC symbol SLCO1C1
Ensembl transcript ID ENST00000545102
Genbank transcript ID NM_001145944
UniProt peptide Q9NYB5
alteration type single base exchange
alteration region CDS
DNA changes c.1676C>T
cDNA.1970C>T
g.56962C>T
AA changes S559F Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS
559
frameshift no
known variant Reference ID: rs6487138
databasehomozygous (T/T)heterozygousallele carriers
1000G62710971724
ExAC17515-226315252
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0110.997
4.0591
(flanking)3.3741
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 increased56953wt: 0.6612 / mu: 0.6965 (marginal change - not scored)wt: AGATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACT
mu: AGATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACT
 agac|ATAT
Acc marginally increased56959wt: 0.3579 / mu: 0.3846 (marginal change - not scored)wt: TCTCTTCTTCTAGACATATATATCTGGGACTAACTGTGATA
mu: TCTCTTCTTCTAGACATATATATTTGGGACTAACTGTGATA
 atat|ATCT
Acc marginally increased56955wt: 0.9031 / mu: 0.9324 (marginal change - not scored)wt: ATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACTGT
mu: ATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACTGT
 acat|ATAT
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      559SCHFTACKTYISGTNCDTGHSVNS
mutated  not conserved    559SCHFTACKTYIFGTNCDTGHSVN
Ptroglodytes  all identical  ENSPTRG00000004749  677SCHFTACKTYISGTNCDTGHSVN
Mmulatta  no alignment  ENSMMUG00000008271  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000030235  n/a
Ggallus  no alignment  ENSGALG00000013154  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000016749  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000030963  n/a
protein features
start (aa)end (aa)featuredetails 
555577TRANSMEMHelical; Name=10; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1839 / 1839
position (AA) of stopcodon in wt / mu AA sequence 613 / 613
position of stopcodon in wt / mu cDNA 2133 / 2133
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 295 / 295
chromosome 12
strand 1
last intron/exon boundary 1960
theoretical NMD boundary in CDS 1615
length of CDS 1839
coding sequence (CDS) position 1676
cDNA position
(for ins/del: last normal base / first normal base)
1970
gDNA position
(for ins/del: last normal base / first normal base)
56962
chromosomal position
(for ins/del: last normal base / first normal base)
20905250
original gDNA sequence snippet CTTCTTCTAGACATATATATCTGGGACTAACTGTGATACTG
altered gDNA sequence snippet CTTCTTCTAGACATATATATTTGGGACTAACTGTGATACTG
original cDNA sequence snippet TGCTTGTAAGACATATATATCTGGGACTAACTGTGATACTG
altered cDNA sequence snippet TGCTTGTAAGACATATATATTTGGGACTAACTGTGATACTG
wildtype AA sequence MGVGTLLIAM PQFFMEQYKY ERYSPSSNST LSISPCLLES SSQLPVSVME KSKSKISNEC
EVDTSSSMWI YVFLGNLLRG IGETPIQPLG IAYLDDFASE DNAAFYIGCV QTVAIIGPIF
GFLLGSLCAK LYVDIGFVNL DHITITPKDP QWVGAWWLGY LIAGIISLLA AVPFWYLPKS
LPRSQSREDS NSSSEKSKFI IDDHTDYQTP QGENAKIMEM ARDFLPSLKN LFGNPVYFLY
LCTSTVQFNS LFGMVTYKPK YIEQQYGQSS SRANFVIGLI NIPAVALGIF SGGIVMKKFR
ISVCGAAKLY LGSSVFGYLL FLSLFALGCE NSDVAGLTVS YQGTKPVSYH ERALFSDCNS
RCKCSETKWE PMCGENGITY VSACLAGCQT SNRSGKNIIF YNCTCVGIAA SKSGNSSGIV
GRCQKDNGCP QMFLYFLVIS VITSYTLSLG GIPGYILLLR CIKPQLKSFA LGIYTLAIRV
LAGIPAPVYF GVLIDTSCLK WGFKRCGSRG SCRLYDSNVF RYQIKSIPAS HCYSIPDLHN
ATDTNKFSCH FTACKTYISG TNCDTGHSVN SPKHCSTFHF KEKLCFKTQK FYNQERKNNG
VYKIPKGKLH YK*
mutated AA sequence MGVGTLLIAM PQFFMEQYKY ERYSPSSNST LSISPCLLES SSQLPVSVME KSKSKISNEC
EVDTSSSMWI YVFLGNLLRG IGETPIQPLG IAYLDDFASE DNAAFYIGCV QTVAIIGPIF
GFLLGSLCAK LYVDIGFVNL DHITITPKDP QWVGAWWLGY LIAGIISLLA AVPFWYLPKS
LPRSQSREDS NSSSEKSKFI IDDHTDYQTP QGENAKIMEM ARDFLPSLKN LFGNPVYFLY
LCTSTVQFNS LFGMVTYKPK YIEQQYGQSS SRANFVIGLI NIPAVALGIF SGGIVMKKFR
ISVCGAAKLY LGSSVFGYLL FLSLFALGCE NSDVAGLTVS YQGTKPVSYH ERALFSDCNS
RCKCSETKWE PMCGENGITY VSACLAGCQT SNRSGKNIIF YNCTCVGIAA SKSGNSSGIV
GRCQKDNGCP QMFLYFLVIS VITSYTLSLG GIPGYILLLR CIKPQLKSFA LGIYTLAIRV
LAGIPAPVYF GVLIDTSCLK WGFKRCGSRG SCRLYDSNVF RYQIKSIPAS HCYSIPDLHN
ATDTNKFSCH FTACKTYIFG TNCDTGHSVN SPKHCSTFHF KEKLCFKTQK FYNQERKNNG
VYKIPKGKLH YK*
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: 1.83266877624817e-36 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:20905250C>TN/A show variant in all transcripts   IGV
HGNC symbol SLCO1C1
Ensembl transcript ID ENST00000266509
Genbank transcript ID NM_017435
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.1927C>T
cDNA.2295C>T
g.56962C>T
AA changes no AA changes
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift no
known variant Reference ID: rs6487138
databasehomozygous (T/T)heterozygousallele carriers
1000G62710971724
ExAC17515-226315252
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0110.997
4.0591
(flanking)3.3741
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 increased56953wt: 0.6612 / mu: 0.6965 (marginal change - not scored)wt: AGATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACT
mu: AGATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACT
 agac|ATAT
Acc marginally increased56959wt: 0.3579 / mu: 0.3846 (marginal change - not scored)wt: TCTCTTCTTCTAGACATATATATCTGGGACTAACTGTGATA
mu: TCTCTTCTTCTAGACATATATATTTGGGACTAACTGTGATA
 atat|ATCT
Acc marginally increased56955wt: 0.9031 / mu: 0.9324 (marginal change - not scored)wt: ATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACTGT
mu: ATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACTGT
 acat|ATAT
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features N/A
length of protein normal
AA sequence altered no
position of stopcodon in wt / mu CDS 2139 / 2139
position (AA) of stopcodon in wt / mu AA sequence 713 / 713
position of stopcodon in wt / mu cDNA 2507 / 2507
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 369 / 369
chromosome 12
strand 1
last intron/exon boundary 2285
theoretical NMD boundary in CDS 1866
length of CDS 2139
coding sequence (CDS) position 1927
cDNA position
(for ins/del: last normal base / first normal base)
2295
gDNA position
(for ins/del: last normal base / first normal base)
56962
chromosomal position
(for ins/del: last normal base / first normal base)
20905250
original gDNA sequence snippet CTTCTTCTAGACATATATATCTGGGACTAACTGTGATACTG
altered gDNA sequence snippet CTTCTTCTAGACATATATATTTGGGACTAACTGTGATACTG
original cDNA sequence snippet ATGTCTTCAGACATATATATCTGGGACTAACTGTGATACTG
altered cDNA sequence snippet ATGTCTTCAGACATATATATTTGGGACTAACTGTGATACTG
wildtype AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNECEV
DTSSSMWIYV FLGNLLRGIG ETPIQPLGIA YLDDFASEDN AAFYIGCVQT VAIIGPIFGF
LLGSLCAKLY VDIGFVNLDH ITITPKDPQW VGAWWLGYLI AGIISLLAAV PFWYLPKSLP
RSQSREDSNS SSEKSKFIID DHTDYQTPQG ENAKIMEMAR DFLPSLKNLF GNPVYFLYLC
TSTVQFNSLF GMVTYKPKYI EQQYGQSSSR ANFVIGLINI PAVALGIFSG GIVMKKFRIS
VCGAAKLYLG SSVFGYLLFL SLFALGCENS DVAGLTVSYQ GTKPVSYHER ALFSDCNSRC
KCSETKWEPM CGENGITYVS ACLAGCQTSN RSGKNIIFYN CTCVGIAASK SGNSSGIVGR
CQKDNGCPQM FLYFLVISVI TSYTLSLGGI PGYILLLRCI KPQLKSFALG IYTLAIRVLA
GIPAPVYFGV LIDTSCLKWG FKRCGSRGSC RLYDSNVFRH IYLGLTVILG TVSILLSIAV
LFILKKNYVS KHRSFITKRE RTMVSTRFQK ENYTTSDHLL QPNYWPGKET QL*
mutated AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNECEV
DTSSSMWIYV FLGNLLRGIG ETPIQPLGIA YLDDFASEDN AAFYIGCVQT VAIIGPIFGF
LLGSLCAKLY VDIGFVNLDH ITITPKDPQW VGAWWLGYLI AGIISLLAAV PFWYLPKSLP
RSQSREDSNS SSEKSKFIID DHTDYQTPQG ENAKIMEMAR DFLPSLKNLF GNPVYFLYLC
TSTVQFNSLF GMVTYKPKYI EQQYGQSSSR ANFVIGLINI PAVALGIFSG GIVMKKFRIS
VCGAAKLYLG SSVFGYLLFL SLFALGCENS DVAGLTVSYQ GTKPVSYHER ALFSDCNSRC
KCSETKWEPM CGENGITYVS ACLAGCQTSN RSGKNIIFYN CTCVGIAASK SGNSSGIVGR
CQKDNGCPQM FLYFLVISVI TSYTLSLGGI PGYILLLRCI KPQLKSFALG IYTLAIRVLA
GIPAPVYFGV LIDTSCLKWG FKRCGSRGSC RLYDSNVFRH IYLGLTVILG TVSILLSIAV
LFILKKNYVS KHRSFITKRE RTMVSTRFQK ENYTTSDHLL QPNYWPGKET QL*
speed 0.94 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: without_aae, prob: 1.83266877624817e-36 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:20905250C>TN/A show variant in all transcripts   IGV
HGNC symbol SLCO1C1
Ensembl transcript ID ENST00000540354
Genbank transcript ID NM_001145945
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.1780C>T
cDNA.2028C>T
g.56962C>T
AA changes no AA changes
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift no
known variant Reference ID: rs6487138
databasehomozygous (T/T)heterozygousallele carriers
1000G62710971724
ExAC17515-226315252
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0110.997
4.0591
(flanking)3.3741
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 increased56953wt: 0.6612 / mu: 0.6965 (marginal change - not scored)wt: AGATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACT
mu: AGATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACT
 agac|ATAT
Acc marginally increased56959wt: 0.3579 / mu: 0.3846 (marginal change - not scored)wt: TCTCTTCTTCTAGACATATATATCTGGGACTAACTGTGATA
mu: TCTCTTCTTCTAGACATATATATTTGGGACTAACTGTGATA
 atat|ATCT
Acc marginally increased56955wt: 0.9031 / mu: 0.9324 (marginal change - not scored)wt: ATTCTCTCTTCTTCTAGACATATATATCTGGGACTAACTGT
mu: ATTCTCTCTTCTTCTAGACATATATATTTGGGACTAACTGT
 acat|ATAT
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features N/A
length of protein normal
AA sequence altered no
position of stopcodon in wt / mu CDS 1992 / 1992
position (AA) of stopcodon in wt / mu AA sequence 664 / 664
position of stopcodon in wt / mu cDNA 2240 / 2240
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 249 / 249
chromosome 12
strand 1
last intron/exon boundary 2018
theoretical NMD boundary in CDS 1719
length of CDS 1992
coding sequence (CDS) position 1780
cDNA position
(for ins/del: last normal base / first normal base)
2028
gDNA position
(for ins/del: last normal base / first normal base)
56962
chromosomal position
(for ins/del: last normal base / first normal base)
20905250
original gDNA sequence snippet CTTCTTCTAGACATATATATCTGGGACTAACTGTGATACTG
altered gDNA sequence snippet CTTCTTCTAGACATATATATTTGGGACTAACTGTGATACTG
original cDNA sequence snippet ATGTCTTCAGACATATATATCTGGGACTAACTGTGATACTG
altered cDNA sequence snippet ATGTCTTCAGACATATATATTTGGGACTAACTGTGATACTG
wildtype AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNGCVQ
TVAIIGPIFG FLLGSLCAKL YVDIGFVNLD HITITPKDPQ WVGAWWLGYL IAGIISLLAA
VPFWYLPKSL PRSQSREDSN SSSEKSKFII DDHTDYQTPQ GENAKIMEMA RDFLPSLKNL
FGNPVYFLYL CTSTVQFNSL FGMVTYKPKY IEQQYGQSSS RANFVIGLIN IPAVALGIFS
GGIVMKKFRI SVCGAAKLYL GSSVFGYLLF LSLFALGCEN SDVAGLTVSY QGTKPVSYHE
RALFSDCNSR CKCSETKWEP MCGENGITYV SACLAGCQTS NRSGKNIIFY NCTCVGIAAS
KSGNSSGIVG RCQKDNGCPQ MFLYFLVISV ITSYTLSLGG IPGYILLLRC IKPQLKSFAL
GIYTLAIRVL AGIPAPVYFG VLIDTSCLKW GFKRCGSRGS CRLYDSNVFR HIYLGLTVIL
GTVSILLSIA VLFILKKNYV SKHRSFITKR ERTMVSTRFQ KENYTTSDHL LQPNYWPGKE
TQL*
mutated AA sequence MDTSSKENIQ LFCKTSVQPV GRPSFKTEYP SSEEKQPCCG ELKVFLCALS FVYFAKALAE
GYLKSTITQI ERRFDIPSSL VGVIDGSFEI GNLLVITFVS YFGAKLHRPK IIGAGCVIMG
VGTLLIAMPQ FFMEQYKYER YSPSSNSTLS ISPCLLESSS QLPVSVMEKS KSKISNGCVQ
TVAIIGPIFG FLLGSLCAKL YVDIGFVNLD HITITPKDPQ WVGAWWLGYL IAGIISLLAA
VPFWYLPKSL PRSQSREDSN SSSEKSKFII DDHTDYQTPQ GENAKIMEMA RDFLPSLKNL
FGNPVYFLYL CTSTVQFNSL FGMVTYKPKY IEQQYGQSSS RANFVIGLIN IPAVALGIFS
GGIVMKKFRI SVCGAAKLYL GSSVFGYLLF LSLFALGCEN SDVAGLTVSY QGTKPVSYHE
RALFSDCNSR CKCSETKWEP MCGENGITYV SACLAGCQTS NRSGKNIIFY NCTCVGIAAS
KSGNSSGIVG RCQKDNGCPQ MFLYFLVISV ITSYTLSLGG IPGYILLLRC IKPQLKSFAL
GIYTLAIRVL AGIPAPVYFG VLIDTSCLKW GFKRCGSRGS CRLYDSNVFR HIYLGLTVIL
GTVSILLSIA VLFILKKNYV SKHRSFITKR ERTMVSTRFQ KENYTTSDHL LQPNYWPGKE
TQL*
speed 2.08 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
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Problems