Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998941626572 (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) chr12:31249861C>GN/A show variant in all transcripts   IGV
HGNC symbol DDX11
Ensembl transcript ID ENST00000350437
Genbank transcript ID NM_004399
UniProt peptide Q96FC9
alteration type single base exchange
alteration region CDS
DNA changes c.1699C>G
cDNA.1897C>G
g.23083C>G
AA changes Q567E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 567
frameshift no
known variant Reference ID: rs2075322
databasehomozygous (G/G)heterozygousallele carriers
1000G109510212116
ExAC17935-310314832
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.6590.655
1.5480.97
(flanking)3.20.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased23079wt: 0.35 / mu: 0.45wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC
mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC		 gcac|ATCC
Donor marginally increased23080wt: 0.9915 / mu: 0.9935 (marginal change - not scored)wt: TGCACATCCAAGGCT
mu: TGCACATCGAAGGCT		 CACA|tcca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      567TLRPASPLMHIQGFLAALTTANQD
mutated  all conserved    567TLRPASPLMHIEGFLAALTTANQ
Ptroglodytes  all conserved  ENSPTRG00000004804  567TPRPASPLMHIEGFLAALTTANQ
Mmulatta  all conserved  ENSMMUG00000022864  567APRPASPLMHIEGFLAALTTANQ
Fcatus  all conserved  ENSFCAG00000016277  569VPRSASPLMHIEGFLAALTTANQ
Mmusculus  all conserved  ENSMUSG00000035842  542ALRPASPLMHIEAFLAALTTANQ
Ggallus  all conserved  ENSGALG00000012969  570QLRAASPLMHIEGFLSALTNANE
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000011072  552EDKPIMASPMMLAESFLFALTNANK
Dmelanogaster  not conserved  FBgn0026876  529TKKPVEEVAPSPIRPLLAFLETLTSNAE
Celegans  all conserved  M03C11.2  511PKPVPSPLFSLKSFIDALTNKCE
Xtropicalis  all conserved  ENSXETG00000003629  550QLRTASPLMQIEGFLSALTNANQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2571 / 2571
position (AA) of stopcodon in wt / mu AA sequence 857 / 857
position of stopcodon in wt / mu cDNA 2769 / 2769
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 199 / 199
chromosome 12
strand 1
last intron/exon boundary 2740
theoretical NMD boundary in CDS 2491
length of CDS 2571
coding sequence (CDS) position 1699
cDNA position
(for ins/del: last normal base / first normal base)		 1897
gDNA position
(for ins/del: last normal base / first normal base)		 23083
chromosomal position
(for ins/del: last normal base / first normal base)		 31249861
original gDNA sequence snippet CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC
altered gDNA sequence snippet CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC
original cDNA sequence snippet CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC
altered cDNA sequence snippet CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC
wildtype AA sequence MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL
LLSVVGGKMS EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK
ALVENLCMKA VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP
AIAAVQKFHR EKSASS*
mutated AA sequence MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIEGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL
LLSVVGGKMS EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK
ALVENLCMKA VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP
AIAAVQKFHR EKSASS*
speed 0.96 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