Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999918061248644 (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 ENST00000407793
Genbank transcript ID NM_152438
UniProt peptide Q96FC9
alteration type single base exchange
alteration region CDS
DNA changes c.2567G>A
cDNA.2818G>A
g.29768G>A
AA changes R856H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 856
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      856QGHQAPEGFCQRSAPGPAICPAPC
mutated  not conserved    856QGHQAPEGFCQHSAPGPAICPAP
Ptroglodytes  not conserved  ENSPTRG00000004804  856QGHQAPEGFCQHSAPGPAIRPAP
Mmulatta  no alignment  ENSMMUG00000022864  n/a
Fcatus  no alignment  ENSFCAG00000016277  n/a
Mmusculus  no alignment  ENSMUSG00000035842  n/a
Ggallus  no alignment  ENSGALG00000012969  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000011072  n/a
Dmelanogaster  no alignment  FBgn0026876  n/a
Celegans  no alignment  M03C11.2  n/a
Xtropicalis  no alignment  ENSXETG00000003629  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2913 / 2913
position (AA) of stopcodon in wt / mu AA sequence 971 / 971
position of stopcodon in wt / mu cDNA 3164 / 3164
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 2938
theoretical NMD boundary in CDS 2636
length of CDS 2913
coding sequence (CDS) position 2567
cDNA position
(for ins/del: last normal base / first normal base)		 2818
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 KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *
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 KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQHSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *
speed 0.75 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