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 1 transcript(s)...
Querying Taster for transcript #1: ENST00000369797
MT speed 0 s - this script 3.69088 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PDCD11polymorphism_automatic0.072241370299521simple_aaeaffectedD1871Asingle base exchangers7831show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.927758629700479 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:105205302A>CN/A show variant in all transcripts   IGV
HGNC symbol PDCD11
Ensembl transcript ID ENST00000369797
Genbank transcript ID NM_014976
UniProt peptide Q14690
alteration type single base exchange
alteration region CDS
DNA changes c.5612A>C
cDNA.5706A>C
g.48898A>C
AA changes D1871A Score: 126 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1871
frameshift no
known variant Reference ID: rs7831
databasehomozygous (C/C)heterozygousallele carriers
1000G38711071494
ExAC86371549324130
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2660.996
0.6970.995
(flanking)0.5460.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 1872)
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased48903wt: 0.48 / mu: 0.62wt: ACTAGTGGCAGGCTG
mu: CCTAGTGGCAGGCTG		 TAGT|ggca
Donor marginally increased48896wt: 0.9751 / mu: 0.9797 (marginal change - not scored)wt: CTAGAGGACTAGTGG
mu: CTAGAGGCCTAGTGG		 AGAG|gact
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1871EYVEAKSSVLED*
mutated  no alignment    n/a
Ptroglodytes  all identical  ENSPTRG00000002911  1871YVEAKSSVLED
Mmulatta  all identical  ENSMMUG00000007058  1873EYVEAKSSVLED
Fcatus  all identical  ENSFCAG00000002384  1868ED
Mmusculus  all identical  ENSMUSG00000025047  1862EYVEAKSSALED
Ggallus  no alignment  ENSGALG00000008265  n/a
Trubripes  no alignment  ENSTRUG00000014291  n/a
Drerio  no alignment  ENSDARG00000052480  n/a
Dmelanogaster  no alignment  FBgn0039182  n/a
Celegans  all conserved  C16A3.3  1740KFLQAVADNVLEE
Xtropicalis  no alignment  ENSXETG00000009482  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5616 / 5616
position (AA) of stopcodon in wt / mu AA sequence 1872 / 1872
position of stopcodon in wt / mu cDNA 5710 / 5710
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 95 / 95
chromosome 10
strand 1
last intron/exon boundary 5539
theoretical NMD boundary in CDS 5394
length of CDS 5616
coding sequence (CDS) position 5612
cDNA position
(for ins/del: last normal base / first normal base)		 5706
gDNA position
(for ins/del: last normal base / first normal base)		 48898
chromosomal position
(for ins/del: last normal base / first normal base)		 105205302
original gDNA sequence snippet CAAGAGCTCAGTGCTAGAGGACTAGTGGCAGGCTGGCTCTG
altered gDNA sequence snippet CAAGAGCTCAGTGCTAGAGGCCTAGTGGCAGGCTGGCTCTG
original cDNA sequence snippet CAAGAGCTCAGTGCTAGAGGACTAGTGGCAGGCTGGCTCTG
altered cDNA sequence snippet CAAGAGCTCAGTGCTAGAGGCCTAGTGGCAGGCTGGCTCTG
wildtype AA sequence MANLEESFPR GGTRKIHKPE KAFQQSVEQD NLFDISTEEG STKRKKSQKG PAKTKKLKIE
KRESSKSARE KFEILSVESL CEGMRILGCV KEVNELELVI SLPNGLQGFV QVTEICDAYT
KKLNEQVTQE QPLKDLLHLP ELFSPGMLVR CVVSSLGITD RGKKSVKLSL NPKNVNRVLS
AEALKPGMLL TGTVSSLEDH GYLVDIGVDG TRAFLPLLKA QEYIRQKNKG AKLKVGQYLN
CIVEKVKGNG GVVSLSVGHS EVSTAIATEQ QSWNLNNLLP GLVVKAQVQK VTPFGLTLNF
LTFFTGVVDF MHLDPKKAGT YFSNQAVRAC ILCVHPRTRV VHLSLRPIFL QPGRPLTRLS
CQNLGAVLDD VPVQGFFKKA GATFRLKDGV LAYARLSHLS DSKNVFNPEA FKPGNTHKCR
IIDYSQMDEL ALLSLRTSII EAQYLRYHDI EPGAVVKGTV LTIKSYGMLV KVGEQMRGLV
PPMHLADILM KNPEKKYHIG DEVKCRVLLC DPEAKKLMMT LKKTLIESKL PVITCYADAK
PGLQTHGFII RVKDYGCIVK FYNNVQGLVP KHELSTEYIP DPERVFYTGQ VVKVVVLNCE
PSKERMLLSF KLSSDPEPKK EPAGHSQKKG KAINIGQLVD VKVLEKTKDG LEVAVLPHNI
RAFLPTSHLS DHVANGPLLH HWLQAGDILH RVLCLSQSEG RVLLCRKPAL VSTVEGGQDP
KNFSEIHPGM LLIGFVKSIK DYGVFIQFPS GLSGLAPKAI MSDKFVTSTS DHFVEGQTVA
AKVTNVDEEK QRMLLSLRLS DCGLGDLAIT SLLLLNQCLE ELQGVRSLMS NRDSVLIQTL
AEMTPGMFLD LVVQEVLEDG SVVFSGGPVP DLVLKASRYH RAGQEVESGQ KKKVVILNVD
LLKLEVHVSL HQDLVNRKAR KLRKGSEHQA IVQHLEKSFA IASLVETGHL AAFSLTSHLN
DTFRFDSEKL QVGQGVSLTL KTTEPGVTGL LLAVEGPAAK RTMRPTQKDS ETVDEDEEVD
PALTVGTIKK HTLSIGDMVT GTVKSIKPTH VVVTLEDGII GCIHASHILD DVPEGTSPTT
KLKVGKTVTA RVIGGRDMKT FKYLPISHPR FVRTIPELSV RPSELEDGHT ALNTHSVSPM
EKIKQYQAGQ TVTCFLKKYN VVKKWLEVEI APDIRGRIPL LLTSLSFKVL KHPDKKFRVG
QALRATVVGP DSSKTLLCLS LTGPHKLEEG EVAMGRVVKV TPNEGLTVSF PFGKIGTVSI
FHMSDSYSET PLEDFVPQKV VRCYILSTAD NVLTLSLRSS RTNPETKSKV EDPEINSIQD
IKEGQLLRGY VGSIQPHGVF FRLGPSVVGL ARYSHVSQHS PSKKALYNKH LPEGKLLTAR
VLRLNHQKNL VELSFLPGDT GKPDVLSASL EGQLTKQEER KTEAEERDQK GEKKNQKRNE
KKNQKGQEEV EMPSKEKQQP QKPQAQKRGG RECRESGSEQ ERVSKKPKKA GLSEEDDSLV
DVYYREGKEE AEETNVLPKE KQTKPAEAPR LQLSSGFAWN VGLDSLTPAL PPLAESSDSE
EDEKPHQATI KKSKKERELE KQKAEKELSR IEEALMDPGR QPESADDFDR LVLSSPNSSI
LWLQYMAFHL QATEIEKARA VAERALKTIS FREEQEKLNV WVALLNLENM YGSQESLTKV
FERAVQYNEP LKVFLHLADI YAKSEKFQEA GELYNRMLKR FRQEKAVWIK YGAFLLRRSQ
AAASHRVLQR ALECLPSKEH VDVIAKFAQL EFQLGDAERA KAIFENTLST YPKRTDVWSV
YIDMTIKHGS QKDVRDIFER VIHLSLAPKR MKFFFKRYLD YEKQHGTEKD VQAVKAKALE
YVEAKSSVLE D*
mutated AA sequence MANLEESFPR GGTRKIHKPE KAFQQSVEQD NLFDISTEEG STKRKKSQKG PAKTKKLKIE
KRESSKSARE KFEILSVESL CEGMRILGCV KEVNELELVI SLPNGLQGFV QVTEICDAYT
KKLNEQVTQE QPLKDLLHLP ELFSPGMLVR CVVSSLGITD RGKKSVKLSL NPKNVNRVLS
AEALKPGMLL TGTVSSLEDH GYLVDIGVDG TRAFLPLLKA QEYIRQKNKG AKLKVGQYLN
CIVEKVKGNG GVVSLSVGHS EVSTAIATEQ QSWNLNNLLP GLVVKAQVQK VTPFGLTLNF
LTFFTGVVDF MHLDPKKAGT YFSNQAVRAC ILCVHPRTRV VHLSLRPIFL QPGRPLTRLS
CQNLGAVLDD VPVQGFFKKA GATFRLKDGV LAYARLSHLS DSKNVFNPEA FKPGNTHKCR
IIDYSQMDEL ALLSLRTSII EAQYLRYHDI EPGAVVKGTV LTIKSYGMLV KVGEQMRGLV
PPMHLADILM KNPEKKYHIG DEVKCRVLLC DPEAKKLMMT LKKTLIESKL PVITCYADAK
PGLQTHGFII RVKDYGCIVK FYNNVQGLVP KHELSTEYIP DPERVFYTGQ VVKVVVLNCE
PSKERMLLSF KLSSDPEPKK EPAGHSQKKG KAINIGQLVD VKVLEKTKDG LEVAVLPHNI
RAFLPTSHLS DHVANGPLLH HWLQAGDILH RVLCLSQSEG RVLLCRKPAL VSTVEGGQDP
KNFSEIHPGM LLIGFVKSIK DYGVFIQFPS GLSGLAPKAI MSDKFVTSTS DHFVEGQTVA
AKVTNVDEEK QRMLLSLRLS DCGLGDLAIT SLLLLNQCLE ELQGVRSLMS NRDSVLIQTL
AEMTPGMFLD LVVQEVLEDG SVVFSGGPVP DLVLKASRYH RAGQEVESGQ KKKVVILNVD
LLKLEVHVSL HQDLVNRKAR KLRKGSEHQA IVQHLEKSFA IASLVETGHL AAFSLTSHLN
DTFRFDSEKL QVGQGVSLTL KTTEPGVTGL LLAVEGPAAK RTMRPTQKDS ETVDEDEEVD
PALTVGTIKK HTLSIGDMVT GTVKSIKPTH VVVTLEDGII GCIHASHILD DVPEGTSPTT
KLKVGKTVTA RVIGGRDMKT FKYLPISHPR FVRTIPELSV RPSELEDGHT ALNTHSVSPM
EKIKQYQAGQ TVTCFLKKYN VVKKWLEVEI APDIRGRIPL LLTSLSFKVL KHPDKKFRVG
QALRATVVGP DSSKTLLCLS LTGPHKLEEG EVAMGRVVKV TPNEGLTVSF PFGKIGTVSI
FHMSDSYSET PLEDFVPQKV VRCYILSTAD NVLTLSLRSS RTNPETKSKV EDPEINSIQD
IKEGQLLRGY VGSIQPHGVF FRLGPSVVGL ARYSHVSQHS PSKKALYNKH LPEGKLLTAR
VLRLNHQKNL VELSFLPGDT GKPDVLSASL EGQLTKQEER KTEAEERDQK GEKKNQKRNE
KKNQKGQEEV EMPSKEKQQP QKPQAQKRGG RECRESGSEQ ERVSKKPKKA GLSEEDDSLV
DVYYREGKEE AEETNVLPKE KQTKPAEAPR LQLSSGFAWN VGLDSLTPAL PPLAESSDSE
EDEKPHQATI KKSKKERELE KQKAEKELSR IEEALMDPGR QPESADDFDR LVLSSPNSSI
LWLQYMAFHL QATEIEKARA VAERALKTIS FREEQEKLNV WVALLNLENM YGSQESLTKV
FERAVQYNEP LKVFLHLADI YAKSEKFQEA GELYNRMLKR FRQEKAVWIK YGAFLLRRSQ
AAASHRVLQR ALECLPSKEH VDVIAKFAQL EFQLGDAERA KAIFENTLST YPKRTDVWSV
YIDMTIKHGS QKDVRDIFER VIHLSLAPKR MKFFFKRYLD YEKQHGTEKD VQAVKAKALE
YVEAKSSVLE A*
speed 1.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems