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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000378784
Querying Taster for transcript #2: ENST00000378787
Querying Taster for transcript #3: ENST00000389908
Querying Taster for transcript #4: ENST00000409879
Querying Taster for transcript #5: ENST00000378797
Querying Taster for transcript #6: ENST00000322896
Querying Taster for transcript #7: ENST00000429979
Querying Taster for transcript #8: ENST00000534925
Querying Taster for transcript #9: ENST00000378781
MT speed 0 s - this script 7.06133 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
RUBCNLpolymorphism_automatic8.99280649946377e-15simple_aaeG85Rsingle base exchangers1408184show file
RUBCNLpolymorphism_automatic8.99280649946377e-15simple_aaeG152Rsingle base exchangers1408184show file
RUBCNLpolymorphism_automatic8.99280649946377e-15simple_aaeG152Rsingle base exchangers1408184show file
RUBCNLpolymorphism_automatic8.99280649946377e-15simple_aaeG152Rsingle base exchangers1408184show file
RUBCNLpolymorphism_automatic8.99280649946377e-15simple_aaeG152Rsingle base exchangers1408184show file
RUBCNLpolymorphism_automatic8.99280649946377e-15simple_aaeG17Rsingle base exchangers1408184show file
RUBCNLpolymorphism_automatic8.99280649946377e-15simple_aaeG152Rsingle base exchangers1408184show file
RUBCNLpolymorphism_automatic9.73753869759619e-08without_aaesingle base exchangers1408184show file
RUBCNLpolymorphism_automatic9.73753869759619e-08without_aaesingle base exchangers1408184show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000378784
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.253G>A
cDNA.405G>A
g.66169G>A
AA changes G85R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    85YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152TSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85YSHQVSLPTSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147TSSK--AASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  170HLQQESLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 1788 / 1788
position (AA) of stopcodon in wt / mu AA sequence 596 / 596
position of stopcodon in wt / mu cDNA 1940 / 1940
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 153 / 153
chromosome 13
strand -1
last intron/exon boundary 1828
theoretical NMD boundary in CDS 1625
length of CDS 1788
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 405
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVSNHYFLLC VNLPLREIHT PGPSPSCLGD SLAETTLSED TTDSVGSASP HGSSEKSSSF
SLSSTEVHMV RPGYSHRVSL PTSPGILATS PYPETDSAFF EPSHLTSAAD EGAVQVSRRT
ISSNSFSPEV FVLPVDVEKE NAHFYVADMI ISAMEKMKCN ILSQQQTESW SKEVSGLLGS
DQPDSEMTFD TNIKQESGSS TSSYSGYEGC AVLQVSPVTE TRTYHDVKEI CKCDVDEFVI
LELGDFNDIT ETCSCSCSSS KSVTYEPDFN SAELLAKELY RVFQKCWILS VVNSQLAGSL
SAAGSIVVNE ECVRKDFESS MNVVQEIKFK SRIRGTEDWA PPRFQIIFNI HPPLKRDLVV
AAQNFFCAGC GTPVEPKFVK RLRYCEYLGK YFCDCCHSYA ESCIPARILM MWDFKKYYVS
NFSKQLLDSI WHQPIFNLLS IGQSLYAKAK ELDRVKEIQE QLFHIKKLLK TCRFANSALK
EFEQVPGHLT DELHLFSLED LVRIKKGLLA PLLKDILKAS LAHVAGCELC QGKGFICEFC
QNTTVIFPFQ TATCRRCSAC RACFHKQCFQ SSECPRCARI TARRKLLESV ASAAT*
mutated AA sequence MVSNHYFLLC VNLPLREIHT PGPSPSCLGD SLAETTLSED TTDSVGSASP HGSSEKSSSF
SLSSTEVHMV RPGYSHRVSL PTSPRILATS PYPETDSAFF EPSHLTSAAD EGAVQVSRRT
ISSNSFSPEV FVLPVDVEKE NAHFYVADMI ISAMEKMKCN ILSQQQTESW SKEVSGLLGS
DQPDSEMTFD TNIKQESGSS TSSYSGYEGC AVLQVSPVTE TRTYHDVKEI CKCDVDEFVI
LELGDFNDIT ETCSCSCSSS KSVTYEPDFN SAELLAKELY RVFQKCWILS VVNSQLAGSL
SAAGSIVVNE ECVRKDFESS MNVVQEIKFK SRIRGTEDWA PPRFQIIFNI HPPLKRDLVV
AAQNFFCAGC GTPVEPKFVK RLRYCEYLGK YFCDCCHSYA ESCIPARILM MWDFKKYYVS
NFSKQLLDSI WHQPIFNLLS IGQSLYAKAK ELDRVKEIQE QLFHIKKLLK TCRFANSALK
EFEQVPGHLT DELHLFSLED LVRIKKGLLA PLLKDILKAS LAHVAGCELC QGKGFICEFC
QNTTVIFPFQ TATCRRCSAC RACFHKQCFQ SSECPRCARI TARRKLLESV ASAAT*
speed 0.95 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: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000378787
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.454G>A
cDNA.929G>A
g.66169G>A
AA changes G152R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    152YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85TSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSS--KAASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  170HLQQESLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 1908 / 1908
position (AA) of stopcodon in wt / mu AA sequence 636 / 636
position of stopcodon in wt / mu cDNA 2383 / 2383
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 476 / 476
chromosome 13
strand -1
last intron/exon boundary 2198
theoretical NMD boundary in CDS 1672
length of CDS 1908
coding sequence (CDS) position 454
cDNA position
(for ins/del: last normal base / first normal base)		 929
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PGILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSCVKERA LFVNFARIRL SSSHFRQQHV EDVQRAGLAF TNSASSPPSA PGVRGSQRGE
NFWKVWPLQQ HDAPEYCEKD CSTCLMITPI CVYYW*
mutated AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PRILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSCVKERA LFVNFARIRL SSSHFRQQHV EDVQRAGLAF TNSASSPPSA PGVRGSQRGE
NFWKVWPLQQ HDAPEYCEKD CSTCLMITPI CVYYW*
speed 0.95 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: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000389908
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.454G>A
cDNA.1037G>A
g.66169G>A
AA changes G152R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    152YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85TSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSS--KAASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  170HLQQESLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 1989 / 1989
position (AA) of stopcodon in wt / mu AA sequence 663 / 663
position of stopcodon in wt / mu cDNA 2572 / 2572
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 584 / 584
chromosome 13
strand -1
last intron/exon boundary 2460
theoretical NMD boundary in CDS 1826
length of CDS 1989
coding sequence (CDS) position 454
cDNA position
(for ins/del: last normal base / first normal base)		 1037
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PGILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSALKEFE QVPGHLTDEL HLFSLEDLVR IKKGLLAPLL KDILKASLAH VAGCELCQGK
GFICEFCQNT TVIFPFQTAT CRRCSACRAC FHKQCFQSSE CPRCARITAR RKLLESVASA
AT*
mutated AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PRILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSALKEFE QVPGHLTDEL HLFSLEDLVR IKKGLLAPLL KDILKASLAH VAGCELCQGK
GFICEFCQNT TVIFPFQTAT CRRCSACRAC FHKQCFQSSE CPRCARITAR RKLLESVASA
AT*
speed 0.80 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: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000378797
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.454G>A
cDNA.1059G>A
g.66169G>A
AA changes G152R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    152YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85TSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSS--KAASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  170HLQQESLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 1908 / 1908
position (AA) of stopcodon in wt / mu AA sequence 636 / 636
position of stopcodon in wt / mu cDNA 2513 / 2513
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 606 / 606
chromosome 13
strand -1
last intron/exon boundary 2328
theoretical NMD boundary in CDS 1672
length of CDS 1908
coding sequence (CDS) position 454
cDNA position
(for ins/del: last normal base / first normal base)		 1059
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PGILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSCVKERA LFVNFARIRL SSSHFRQQHV EDVQRAGLAF TNSASSPPSA PGVRGSQRGE
NFWKVWPLQQ HDAPEYCEKD CSTCLMITPI CVYYW*
mutated AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PRILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSCVKERA LFVNFARIRL SSSHFRQQHV EDVQRAGLAF TNSASSPPSA PGVRGSQRGE
NFWKVWPLQQ HDAPEYCEKD CSTCLMITPI CVYYW*
speed 0.95 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: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000429979
Genbank transcript ID NM_025113
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.454G>A
cDNA.1059G>A
g.66169G>A
AA changes G152R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    152YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85TSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSS--KAASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  170HLQQESLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 1989 / 1989
position (AA) of stopcodon in wt / mu AA sequence 663 / 663
position of stopcodon in wt / mu cDNA 2594 / 2594
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 606 / 606
chromosome 13
strand -1
last intron/exon boundary 2482
theoretical NMD boundary in CDS 1826
length of CDS 1989
coding sequence (CDS) position 454
cDNA position
(for ins/del: last normal base / first normal base)		 1059
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PGILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSALKEFE QVPGHLTDEL HLFSLEDLVR IKKGLLAPLL KDILKASLAH VAGCELCQGK
GFICEFCQNT TVIFPFQTAT CRRCSACRAC FHKQCFQSSE CPRCARITAR RKLLESVASA
AT*
mutated AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PRILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSALKEFE QVPGHLTDEL HLFSLEDLVR IKKGLLAPLL KDILKASLAH VAGCELCQGK
GFICEFCQNT TVIFPFQTAT CRRCSACRAC FHKQCFQSSE CPRCARITAR RKLLESVASA
AT*
speed 0.84 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: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000534925
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.49G>A
cDNA.308G>A
g.66169G>A
AA changes G17R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 17
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      17YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    17YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85YSHQVSLPTSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSSK--AASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  166SLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 1584 / 1584
position (AA) of stopcodon in wt / mu AA sequence 528 / 528
position of stopcodon in wt / mu cDNA 1843 / 1843
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 260 / 260
chromosome 13
strand -1
last intron/exon boundary 1731
theoretical NMD boundary in CDS 1421
length of CDS 1584
coding sequence (CDS) position 49
cDNA position
(for ins/del: last normal base / first normal base)		 308
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVRPGYSHRV SLPTSPGILA TSPYPETDSA FFEPSHLTSA ADEGAVQVSR RTISSNSFSP
EVFVLPVDVE KENAHFYVAD MIISAMEKMK CNILSQQQTE SWSKEVSGLL GSDQPDSEMT
FDTNIKQESG SSTSSYSGYE GCAVLQVSPV TETRTYHDVK EICKCDVDEF VILELGDFND
ITETCSCSCS SSKSVTYEPD FNSAELLAKE LYRVFQKCWI LSVVNSQLAG SLSAAGSIVV
NEECVRKDFE SSMNVVQEIK FKSRIRGTED WAPPRFQIIF NIHPPLKRDL VVAAQNFFCA
GCGTPVEPKF VKRLRYCEYL GKYFCDCCHS YAESCIPARI LMMWDFKKYY VSNFSKQLLD
SIWHQPIFNL LSIGQSLYAK AKELDRVKEI QEQLFHIKKL LKTCRFANSA LKEFEQVPGH
LTDELHLFSL EDLVRIKKGL LAPLLKDILK ASLAHVAGCE LCQGKGFICE FCQNTTVIFP
FQTATCRRCS ACRACFHKQC FQSSECPRCA RITARRKLLE SVASAAT*
mutated AA sequence MVRPGYSHRV SLPTSPRILA TSPYPETDSA FFEPSHLTSA ADEGAVQVSR RTISSNSFSP
EVFVLPVDVE KENAHFYVAD MIISAMEKMK CNILSQQQTE SWSKEVSGLL GSDQPDSEMT
FDTNIKQESG SSTSSYSGYE GCAVLQVSPV TETRTYHDVK EICKCDVDEF VILELGDFND
ITETCSCSCS SSKSVTYEPD FNSAELLAKE LYRVFQKCWI LSVVNSQLAG SLSAAGSIVV
NEECVRKDFE SSMNVVQEIK FKSRIRGTED WAPPRFQIIF NIHPPLKRDL VVAAQNFFCA
GCGTPVEPKF VKRLRYCEYL GKYFCDCCHS YAESCIPARI LMMWDFKKYY VSNFSKQLLD
SIWHQPIFNL LSIGQSLYAK AKELDRVKEI QEQLFHIKKL LKTCRFANSA LKEFEQVPGH
LTDELHLFSL EDLVRIKKGL LAPLLKDILK ASLAHVAGCE LCQGKGFICE FCQNTTVIFP
FQTATCRRCS ACRACFHKQC FQSSECPRCA RITARRKLLE SVASAAT*
speed 0.74 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: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000378781
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.454G>A
cDNA.1059G>A
g.66169G>A
AA changes G152R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    152YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85TSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSS--KAASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  170HLQQESLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 966 / 966
position (AA) of stopcodon in wt / mu AA sequence 322 / 322
position of stopcodon in wt / mu cDNA 1571 / 1571
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 606 / 606
chromosome 13
strand -1
last intron/exon boundary 2421
theoretical NMD boundary in CDS 1765
length of CDS 966
coding sequence (CDS) position 454
cDNA position
(for ins/del: last normal base / first normal base)		 1059
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PGILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILVS LMSQTSILQN Y*
mutated AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PRILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILVS LMSQTSILQN Y*
speed 0.73 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: 0.999999902624613 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000409879
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.66169G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 3207
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 1062 / 1062
chromosome 13
strand -1
last intron/exon boundary 2467
theoretical NMD boundary in CDS 1355
length of CDS 1518
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)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSNHYFLLC VNLPLREIHT PGAVQVSRRT ISSNSFSPEV FVLPVDVEKE NAHFYVADMI
ISAMEKMKCN ILSQQQTESW SKEVSGLLGS DQPDSEMTFD TNIKQESGSS TSSYSGYEGN
AVLQVSPVTE TRTYHDVKEI CKCDVDEFVI LELGDFNDIT ETCSCSCSSS KSVTYEPDFN
SAELLAKELY RVFQKCWILS VVNSQLAGSL SAAGSIVVNE ECVRKDFESS MNVVQEIKFK
SRIRGTEDWA PPRFQIIFNI HPPLKRDLVV AAQNFFCAGC GTPVEPKFVK RLRYCEYLGK
YFCDCCHSYA ESCIPARILM MWDFKKYYVS NFSKQLLDSI WHQPIFNLLS IGQSLYAKAK
ELDRVKEIQE QLFHIKKLLK TCRFANSALK EFEQVPGHLT DELHLFSLED LVRIKKGLLA
PLLKDILKAS LAHVAGCELC QGKGFICEFC QNTTVIFPFQ TATCRRCSAC RACFHKQCFQ
SSECPRCARI TARRKLLESV ASAAT*
mutated AA sequence N/A
speed 0.77 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: 0.999999902624613 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000322896
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.66169G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 3207
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 102 / 102
chromosome 13
strand -1
last intron/exon boundary 1507
theoretical NMD boundary in CDS 1355
length of CDS 1518
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)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVSNHYFLLC VNLPLREIHT PGAVQVSRRT ISSNSFSPEV FVLPVDVEKE NAHFYVADMI
ISAMEKMKCN ILSQQQTESW SKEVSGLLGS DQPDSEMTFD TNIKQESGSS TSSYSGYEGC
AVLQVSPVTE TRTYHDVKEI CKCDVDEFVI LELGDFNDIT ETCSCSCSSS KSVTYEPDFN
SAELLAKELY RVFQKCWILS VVNSQLAGSL SAAGSIVVNE ECVRKDFESS MNVVQEIKFK
SRIRGTEDWA PPRFQIIFNI HPPLKRDLVV AAQNFFCAGC GTPVEPKFVK RLRYCEYLGK
YFCDCCHSYA ESCIPARILM MWDFKKYYVS NFSKQLLDSI WHQPIFNLLS IGQSLYAKAK
ELDRVKEIQE QLFHIKKLLK TCRFANSALK EFEQVPGHLT DELHLFSLED LVRIKKGLLA
PLLKDILKAS LAHVAGCELC QGKGFICEFC QNTTVIFPFQ TATCRRCSAC RACFHKQCFQ
SSECPRCARI TARRKLLESV ASAAT*
mutated AA sequence N/A
speed 0.73 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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