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
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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 ENST00000228264
Genbank transcript ID NM_001257145
UniProt peptide Q96FC9
alteration type single base exchange
alteration region CDS
DNA changes c.1621C>G
cDNA.1740C>G
g.23083C>G
AA changes Q541E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 541
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      541TLRPASPLMHIQGFLAALTTANQD
mutated  all conserved    541EGFLAALTTANQ
Ptroglodytes  all conserved  ENSPTRG00000004804  567EGFLAALTTANQ
Mmulatta  all conserved  ENSMMUG00000022864  567EGFLAALTTANQ
Fcatus  all conserved  ENSFCAG00000016277  569MHIEGFLAALTTANQ
Mmusculus  all conserved  ENSMUSG00000035842  539LMHIEAFLAALTTANQ
Ggallus  all conserved  ENSGALG00000012969  572QLRAASPLMHIEGFLSALTNANE
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000011072  548EDKPIMASPMMLAESFLFALTNANK
Dmelanogaster  not conserved  FBgn0026876  536TKKPVEEVAPSPIRPLLAFLETLTSNAE
Celegans  all conserved  M03C11.2  510PKPVPSPLFSLKSFIDALTNKCE
Xtropicalis  all conserved  ENSXETG00000003629  553PLMQIEGFLSALTNANQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2643 / 2643
position (AA) of stopcodon in wt / mu AA sequence 881 / 881
position of stopcodon in wt / mu cDNA 2762 / 2762
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 120 / 120
chromosome 12
strand 1
last intron/exon boundary 2733
theoretical NMD boundary in CDS 2563
length of CDS 2643
coding sequence (CDS) position 1621
cDNA position
(for ins/del: last normal base / first normal base)		 1740
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 MAELYRVLEA GKIGIFESPT GTGKSLSLIC GALSWLRDFE QKKREEEARL LETGTGPLHD
EKDESLCLSS SCEGAAGTPR PAGEPAWVTQ FVQKKEERDL VDRLKAEQAR RKQREERLQQ
LQHRVQLKYA AKRLRQEEEE RENLLRLSRE MLETGPEAER LEQLESGEEE LVLAEYESDE
EKKVASRVDE DEDDLEEEHI TKIYYCSRTH SQLAQFVHEV KKSPFGKDVR LVSLGSRQNL
CVNEDVKSLG SVQLINDRCV DMQRSRHEKK KGAEEEKPKR RRQEKQAACP FYNHEQMGLL
RDEALAEVKD MEQLLALGKE ARACPYYGSR LAIPAAQLVV LPYQMLLHAA TRQAAGIRLQ
DQVVIIDEAH NLIDTITGMH SVEVSGSQLC QAHSQLLQYV ERYGKRLKAK NLMYLKQILY
LLEKFVAVLG GNIKQNPNTQ SLSQTGTELK TINDFLFQSQ IDNINLFKVQ RYCEKSMISR
KLFGFTERYG AVFSSREQPK LAGFQQFLQS LQPRTTEALA APADESQAST LRPASPLMHI
QGFLAALTTA NQDGRVILSR QGSLSQSTLK FLLLNPAVHF AQVVKECRAV VIAGGTMQPV
SDFRQQLLAC AGVEAERVVE FSCGHVIPPD NILPLVICSG ISNQPLEFTF QKRELPQMMD
EVGRILCNLC GVVPGGVVCF FPSYEYLRQV HAHWEKGGLL GRLAARKKIF QEPKSAHQVE
QVLLAYSRCI QACGQERGQV TGALLLSVVG GKMSEGINFS DNLGRCVVMV GMPFPNIRSA
ELQEKMAYLD QTLPRAPGQA PPGKALVENL CMKAVNQSIG RAIRHQKDFA SVVLLDQRYA
RPPVLAKLPA WIRARVEVKA TFGPAIAAVQ KFHREKSASS *
mutated AA sequence MAELYRVLEA GKIGIFESPT GTGKSLSLIC GALSWLRDFE QKKREEEARL LETGTGPLHD
EKDESLCLSS SCEGAAGTPR PAGEPAWVTQ FVQKKEERDL VDRLKAEQAR RKQREERLQQ
LQHRVQLKYA AKRLRQEEEE RENLLRLSRE MLETGPEAER LEQLESGEEE LVLAEYESDE
EKKVASRVDE DEDDLEEEHI TKIYYCSRTH SQLAQFVHEV KKSPFGKDVR LVSLGSRQNL
CVNEDVKSLG SVQLINDRCV DMQRSRHEKK KGAEEEKPKR RRQEKQAACP FYNHEQMGLL
RDEALAEVKD MEQLLALGKE ARACPYYGSR LAIPAAQLVV LPYQMLLHAA TRQAAGIRLQ
DQVVIIDEAH NLIDTITGMH SVEVSGSQLC QAHSQLLQYV ERYGKRLKAK NLMYLKQILY
LLEKFVAVLG GNIKQNPNTQ SLSQTGTELK TINDFLFQSQ IDNINLFKVQ RYCEKSMISR
KLFGFTERYG AVFSSREQPK LAGFQQFLQS LQPRTTEALA APADESQAST LRPASPLMHI
EGFLAALTTA NQDGRVILSR QGSLSQSTLK FLLLNPAVHF AQVVKECRAV VIAGGTMQPV
SDFRQQLLAC AGVEAERVVE FSCGHVIPPD NILPLVICSG ISNQPLEFTF QKRELPQMMD
EVGRILCNLC GVVPGGVVCF FPSYEYLRQV HAHWEKGGLL GRLAARKKIF QEPKSAHQVE
QVLLAYSRCI QACGQERGQV TGALLLSVVG GKMSEGINFS DNLGRCVVMV GMPFPNIRSA
ELQEKMAYLD QTLPRAPGQA PPGKALVENL CMKAVNQSIG RAIRHQKDFA SVVLLDQRYA
RPPVLAKLPA WIRARVEVKA TFGPAIAAVQ KFHREKSASS *
speed 1.29 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