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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000367837
Querying Taster for transcript #2: ENST00000415177
Querying Taster for transcript #3: ENST00000367826
Querying Taster for transcript #4: ENST00000524715
Querying Taster for transcript #5: ENST00000367822
Querying Taster for transcript #6: ENST00000367820
Querying Taster for transcript #7: ENST00000367824
Querying Taster for transcript #8: ENST00000445176
MT speed 0 s - this script 6.492159 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
HBS1Lpolymorphism_automatic5.50004486399303e-13simple_aaeE343Asingle base exchangers7742542show file
HBS1Lpolymorphism_automatic2.16869995961488e-07without_aaesingle base exchangers7742542show file
HBS1Lpolymorphism_automatic2.16869995961488e-07without_aaesingle base exchangers7742542show file
HBS1Lpolymorphism_automatic2.16869995961488e-07without_aaesingle base exchangers7742542show file
HBS1Lpolymorphism_automatic2.16869995961488e-07without_aaesingle base exchangers7742542show file
HBS1Lpolymorphism_automatic2.16869995961488e-07without_aaesingle base exchangers7742542show file
HBS1Lpolymorphism_automatic2.16869995961488e-07without_aaesingle base exchangers7742542show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999945 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000367822
Genbank transcript ID NM_001145207
UniProt peptide Q9Y450
alteration type single base exchange
alteration region CDS
DNA changes c.1028A>C
cDNA.1221A>C
g.65628A>C
AA changes E343A Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 343
frameshift no
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 598
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      343NMTVDNLNASKETEVGNVSLVEQS
mutated  not conserved    343NMTVDNLNASKATEVGNVSLVEQ
Ptroglodytes  no alignment  ENSPTRG00000018630  n/a
Mmulatta  no alignment  ENSMMUG00000004802  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000019977  n/a
Ggallus  no alignment  ENSGALG00000013962  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000036778  n/a
Dmelanogaster  no alignment  FBgn0042712  n/a
Celegans  no alignment  K07A12.4  n/a
Xtropicalis  no alignment  ENSXETG00000003726  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1899 / 1899
position (AA) of stopcodon in wt / mu AA sequence 633 / 633
position of stopcodon in wt / mu cDNA 2092 / 2092
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 624
theoretical NMD boundary in CDS 380
length of CDS 1899
coding sequence (CDS) position 1028
cDNA position
(for ins/del: last normal base / first normal base)		 1221
gDNA position
(for ins/del: last normal base / first normal base)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered cDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
wildtype AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
EQDRVQSLKD KNEATVSTGK IAKGVLFSSS EVSADNVQSS YPQSANHLDY SSKPFDFASS
VGKYGLSHNS SVPTHCLLHR KKKLDTRKSE KKLESCKLTK ELSLANLIHD MSRDSCESQP
SVRLSSTDSL ESLLSKNLDA DLLRPHASEC ISKDDSAFKE IPDLKTIIIK GTTPNNSLYI
QNNSLSDFQN IPVQDSLGSS NNPLYLTSSL ENMTVDNLNA SKETEVGNVS LVEQSAKNHT
FKNDNLQFSQ CESPSLTELF QEHKENNISQ CFTLSDLCNQ SSASFTDLSL GSFPLSQLAN
RCQSSPGISE LTGSLSSLAF HKASPTRDLE NLSLSELIAE TIDVDNSQIK KESFEVSLSE
VRSPGIDSNI DLSVLIKNPD FVPKPVVDPS IAPSSRTKVL SSKLGKNSNF AKDNKKNNKG
SLTRKPPFSL SWTKALAARP SAFASTLCLR YPLKSCKRRT LDLYKTFLYS RQVQDVKDKE
ISPLVAITPF DFKSASPDDI VKANQKKAFT RE*
mutated AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
EQDRVQSLKD KNEATVSTGK IAKGVLFSSS EVSADNVQSS YPQSANHLDY SSKPFDFASS
VGKYGLSHNS SVPTHCLLHR KKKLDTRKSE KKLESCKLTK ELSLANLIHD MSRDSCESQP
SVRLSSTDSL ESLLSKNLDA DLLRPHASEC ISKDDSAFKE IPDLKTIIIK GTTPNNSLYI
QNNSLSDFQN IPVQDSLGSS NNPLYLTSSL ENMTVDNLNA SKATEVGNVS LVEQSAKNHT
FKNDNLQFSQ CESPSLTELF QEHKENNISQ CFTLSDLCNQ SSASFTDLSL GSFPLSQLAN
RCQSSPGISE LTGSLSSLAF HKASPTRDLE NLSLSELIAE TIDVDNSQIK KESFEVSLSE
VRSPGIDSNI DLSVLIKNPD FVPKPVVDPS IAPSSRTKVL SSKLGKNSNF AKDNKKNNKG
SLTRKPPFSL SWTKALAARP SAFASTLCLR YPLKSCKRRT LDLYKTFLYS RQVQDVKDKE
ISPLVAITPF DFKSASPDDI VKANQKKAFT RE*
speed 1.25 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: 0.999999783130004 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000415177
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.65628A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 4572
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 129 / 129
chromosome 6
strand -1
last intron/exon boundary 1977
theoretical NMD boundary in CDS 1798
length of CDS 1860
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)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQGK PVDSQTSRSE SEIVPKVAKM TVSGKKQTMG FEVPGVSSEE
NGHSFHTPQK GPPIEDAIAS SDVLETASKS ANPPHTIQAS EEQSSTPAPV KKSGKLRQQI
DVKAELEKRQ GGKQLLNLVV IGHVDAGKST LMGHMLYLLG NINKRTMHKY EQESKKAGKA
SFAYAWVLDE TGEERERGVT MDVGMTKFET TTKVITLMDA PGHKDFIPNM ITGAAQADVA
VLVVDASRGE FEAGFETGGQ TREHGLLVRS LGVTQLAVAV NKMDQVNWQQ ERFQEITGKL
GHFLKQAGFK ESDVGFIPTS GLSGENLITR SQSSELTKWY KGLCLLEQID SFKPPQRSID
KPFRLCVSDV FKDQGSGFCI TGKIEAGYIQ TGDRLLAMPP NETCTVKGIT LHDEPVDWAA
AGDHVSLTLV GMDIIKINVG CIFCGPKVPI KACTRFRARI LIFNIEIPIT KGFPVLLHYQ
TVSEPAVIKR LISVLNKSTG EVTKKKPKFL TKGQNALVEL QTQRPIALEL YKDFKELGRF
MLRYGGSTIA AGVVTEIKE*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999783130004 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000367837
Genbank transcript ID NM_006620
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.65628A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 2144
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 208 / 208
chromosome 6
strand -1
last intron/exon boundary 2251
theoretical NMD boundary in CDS 1993
length of CDS 2055
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)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
EQDRVQSLKD KNEATVSTGK IAKGKPVDSQ TSRSESEIVP KVAKMTVSGK KQTMGFEVPG
VSSEENGHSF HTPQKGPPIE DAIASSDVLE TASKSANPPH TIQASEEQSS TPAPVKKSGK
LRQQIDVKAE LEKRQGGKQL LNLVVIGHVD AGKSTLMGHM LYLLGNINKR TMHKYEQESK
KAGKASFAYA WVLDETGEER ERGVTMDVGM TKFETTTKVI TLMDAPGHKD FIPNMITGAA
QADVAVLVVD ASRGEFEAGF ETGGQTREHG LLVRSLGVTQ LAVAVNKMDQ VNWQQERFQE
ITGKLGHFLK QAGFKESDVG FIPTSGLSGE NLITRSQSSE LTKWYKGLCL LEQIDSFKPP
QRSIDKPFRL CVSDVFKDQG SGFCITGKIE AGYIQTGDRL LAMPPNETCT VKGITLHDEP
VDWAAAGDHV SLTLVGMDII KINVGCIFCG PKVPIKACTR FRARILIFNI EIPITKGFPV
LLHYQTVSEP AVIKRLISVL NKSTGEVTKK KPKFLTKGQN ALVELQTQRP IALELYKDFK
ELGRFMLRYG GSTIAAGVVT EIKE*
mutated AA sequence N/A
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: without_aae, prob: 0.999999783130004 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000367826
Genbank transcript ID NM_001145158
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.65628A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 2144
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 129 / 129
chromosome 6
strand -1
last intron/exon boundary 2046
theoretical NMD boundary in CDS 1867
length of CDS 1929
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)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTARLY SCLDHMREVL GDAVPDEILI
EAVLKNKFDV QKALSGVLEQ DRVQSLKDKN EATVSTGKIA KGKPVDSQTS RSESEIVPKV
AKMTVSGKKQ TMGFEVPGVS SEENGHSFHT PQKGPPIEDA IASSDVLETA SKSANPPHTI
QASEEQSSTP APVKKSGKLR QQIDVKAELE KRQGGKQLLN LVVIGHVDAG KSTLMGHMLY
LLGNINKRTM HKYEQESKKA GKASFAYAWV LDETGEERER GVTMDVGMTK FETTTKVITL
MDAPGHKDFI PNMITGAAQA DVAVLVVDAS RGEFEAGFET GGQTREHGLL VRSLGVTQLA
VAVNKMDQVN WQQERFQEIT GKLGHFLKQA GFKESDVGFI PTSGLSGENL ITRSQSSELT
KWYKGLCLLE QIDSFKPPQR SIDKPFRLCV SDVFKDQGSG FCITGKIEAG YIQTGDRLLA
MPPNETCTVK GITLHDEPVD WAAAGDHVSL TLVGMDIIKI NVGCIFCGPK VPIKACTRFR
ARILIFNIEI PITKGFPVLL HYQTVSEPAV IKRLISVLNK STGEVTKKKP KFLTKGQNAL
VELQTQRPIA LELYKDFKEL GRFMLRYGGS TIAAGVVTEI KE*
mutated AA sequence N/A
speed 0.97 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: 0.999999783130004 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000367820
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.65628A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 635
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 110 / 110
chromosome 6
strand -1
last intron/exon boundary 540
theoretical NMD boundary in CDS 380
length of CDS 444
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)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
EQDRVQSLKD KNEATVSTGK IAKGPCC*
mutated AA sequence N/A
speed 1.24 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: 0.999999783130004 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000367824
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.65628A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 13153
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 103 / 103
chromosome 6
strand -1
last intron/exon boundary 1654
theoretical NMD boundary in CDS 1501
length of CDS 1563
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)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTVSGKKQTM GFEVPGVSSE ENGHSFHTPQ KGPPIEDAIA SSDVLETASK SANPPHTIQA
SEEQSSTPAP VKKSGKLRQQ IDVKAELEKR QGGKQLLNLV VIGHVDAGKS TLMGHMLYLL
GNINKRTMHK YEQESKKAGK ASFAYAWVLD ETGEERERGV TMDVGMTKFE TTTKVITLMD
APGHKDFIPN MITGAAQADV AVLVVDASRG EFEAGFETGG QTREHGLLVR SLGVTQLAVA
VNKMDQVNWQ QERFQEITGK LGHFLKQAGF KESDVGFIPT SGLSGENLIT RSQSSELTKW
YKGLCLLEQI DSFKPPQRSI DKPFRLCVSD VFKDQGSGFC ITGKIEAGYI QTGDRLLAMP
PNETCTVKGI TLHDEPVDWA AAGDHVSLTL VGMDIIKINV GCIFCGPKVP IKACTRFRAR
ILIFNIEIPI TKGFPVLLHY QTVSEPAVIK RLISVLNKST GEVTKKKPKF LTKGQNALVE
LQTQRPIALE LYKDFKELGR FMLRYGGSTI AAGVVTEIKE *
mutated AA sequence N/A
speed 1.01 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: 0.999999783130004 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000445176
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.65628A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 4572
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 244 / 244
chromosome 6
strand -1
last intron/exon boundary 1459
theoretical NMD boundary in CDS 1165
length of CDS 1227
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)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGHMLYLLGN INKRTMHKYE QESKKAGKAS FAYAWVLDET GEERERGVTM DVGMTKFETT
TKVITLMDAP GHKDFIPNMI TGAAQADVAV LVVDASRGEF EAGFETGGQT REHGLLVRSL
GVTQLAVAVN KMDQVNWQQE RFQEITGKLG HFLKQAGFKE SDVGFIPTSG LSGENLITRS
QSSELTKWYK GLCLLEQIDS FKPPQRSIDK PFRLCVSDVF KDQGSGFCIT GKIEAGYIQT
GDRLLAMPPN ETCTVKGITL HDEPVDWAAA GDHVSLTLVG MDIIKINVGC IFCGPKVPIK
ACTRFRARIL IFNIEIPITK GFPVLLHYQT VSEPAVIKRL ISVLNKSTGE VTKKKPKFLT
KGQNALVELQ TQRPIALELY KDFKELGRFM LRYGGSTIAA GVVTEIKE*
mutated AA sequence N/A
speed 0.11 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

annotation problem

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