Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999518900801649 (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) chr12:31256546G>AN/A show variant in all transcripts   IGV
HGNC symbol DDX11
Ensembl transcript ID ENST00000542838
Genbank transcript ID NM_030653
UniProt peptide Q96FC9
alteration type single base exchange
alteration region CDS
DNA changes c.2572G>A
cDNA.2823G>A
g.29768G>A
AA changes V858I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 858
frameshift no
known variant Reference ID: rs1046457
databasehomozygous (A/A)heterozygousallele carriers
1000G106510462111
ExAC1590096716867
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9921
0.9390.996
(flanking)3.010.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      858RAIRHQKDFASVVLLDQRYARPPV
mutated  all conserved    858RAIRHQKDFASIVLLDQRYARPP
Ptroglodytes  no alignment  ENSPTRG00000004804  n/a
Mmulatta  all conserved  ENSMMUG00000022864  858RAIRHQKDFASIVLLDQRYARPP
Fcatus  all conserved  ENSFCAG00000016277  859RAIRHQKDFASIVLLDHRYARPP
Mmusculus  all conserved  ENSMUSG00000035842  830RAIRHQRDFASIVLLDHRYARPS
Ggallus  all conserved  ENSGALG00000012969  862RAIRHQKDYASILLLDHRYARPA
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000011072  840RAIRHRGDYACIVLCDHRYARTG
Dmelanogaster  all identical  FBgn0026876  816RAVRHIKDYACVYLLDKRFADPK
Celegans  all identical  M03C11.2  783RAIRHRRDYAAVYLFDDRYAKES
Xtropicalis  all conserved  ENSXETG00000003629  845RAIRHRGDYASIVLLDHRYSRPA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2721 / 2721
position (AA) of stopcodon in wt / mu AA sequence 907 / 907
position of stopcodon in wt / mu cDNA 2972 / 2972
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 252 / 252
chromosome 12
strand 1
last intron/exon boundary 2943
theoretical NMD boundary in CDS 2641
length of CDS 2721
coding sequence (CDS) position 2572
cDNA position
(for ins/del: last normal base / first normal base)		 2823
gDNA position
(for ins/del: last normal base / first normal base)		 29768
chromosomal position
(for ins/del: last normal base / first normal base)		 31256546
original gDNA sequence snippet ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA
altered gDNA sequence snippet ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA
original cDNA sequence snippet ACCAGAAGGATTTTGCCAGCGTAGTGCTCCTGGACCAGCGA
altered cDNA sequence snippet ACCAGAAGGATTTTGCCAGCATAGTGCTCCTGGACCAGCGA
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 LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK 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 SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK ALVENLCMKA
VNQSIGRAIR HQKDFASIVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP AIAAVQKFHR
EKSASS*
speed 1.34 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