Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998162 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1512799)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:614318T>CN/A show variant in all transcripts   IGV
HGNC symbol IRF7
Ensembl transcript ID ENST00000330243
Genbank transcript ID N/A
UniProt peptide Q92985
alteration type single base exchange
alteration region CDS
DNA changes c.574A>G
cDNA.961A>G
g.1682A>G
AA changes K192E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 192
frameshift no
known variant Reference ID: rs1061502
databasehomozygous (C/C)heterozygousallele carriers
1000G3007801080
ExAC42822042524707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2670.001
-2.280
(flanking)-0.3940
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1673wt: 0.67 / mu: 0.79wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC
mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC		 ccag|CTGG
Acc marginally increased1676wt: 0.7784 / mu: 0.7825 (marginal change - not scored)wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG
mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG		 gctg|GTGA
Donor increased1676wt: 0.23 / mu: 0.97wt: CAGCTGGTGACAAGG
mu: CAGCTGGTGACGAGG		 GCTG|gtga
Donor gained16810.50mu: GGTGACGAGGGGGAC TGAC|gagg
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      192APGPLPAPAGDKGDLLLQAVQQSC
mutated  all conserved    192APGPLPAPAGDEGDLLLQAVQQS
Ptroglodytes  all identical  ENSPTRG00000003126  200SPGALDVTIMYKGRTVLQKV
Mmulatta  all identical  ENSMMUG00000004014  193APGPFPAPAGDKGDLLLQAVQQS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000025498  179TPSPLLS--SDAGDLL
Ggallus  all conserved  ENSGALG00000014297  166XXXXVAAAALTQVDLDLLQSV
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000045661  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
444444CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
446446CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
471471MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
472472MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
477477MOD_RESPhosphoserine; by TBK1 and IKKE.might get lost (downstream of altered splice site)
477479MUTAGENSLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.might get lost (downstream of altered splice site)
479479MOD_RESPhosphoserine; by TBK1 and IKKE.might get lost (downstream of altered splice site)
483483MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
484484MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
position of stopcodon in wt / mu cDNA 1938 / 1938
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 388 / 388
chromosome 11
strand -1
last intron/exon boundary 1783
theoretical NMD boundary in CDS 1345
length of CDS 1551
coding sequence (CDS) position 574
cDNA position
(for ins/del: last normal base / first normal base)		 961
gDNA position
(for ins/del: last normal base / first normal base)		 1682
chromosomal position
(for ins/del: last normal base / first normal base)		 614318
original gDNA sequence snippet TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG
altered gDNA sequence snippet TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG
original cDNA sequence snippet TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG
altered cDNA sequence snippet TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG
wildtype AA sequence MPVPERPAAG PDSPRPGTRR AAPRVLFGEW LLGEISSGCY EGLQWLDEAR TCFRVPWKHF
ARKDLSEADA RIFKAWAVAR GRWPPSSRGG GPPPEAETAE RAGWKTNFRC ALRSTRRFVM
LRDNSGDPAD PHKVYALSRE LCWREGPGTD QTEAEAPAAV PPPQGGPPGP FLAHTHAGLQ
APGPLPAPAG DKGDLLLQAV QQSCLADHLL TASWGADPVP TKAPGEGQEG LPLTGACAGG
PGLPAGELYG WAVETTPSPG PQPAALTTGE AAAPESPHQA EPYLSPSPSA CTAVQEPSPG
ALDVTIMYKG RTVLQKVVGH PSCTFLYGPP DPAVRATDPQ QVAFPSPAEL PDQKQLRYTE
ELLRHVAPGL HLELRGPQLW ARRMGKCKVY WEVGGPPGSA SPSTPACLLP RNCDTPIFDF
RVFFQELVEF RARQRRGSPR YTIYLGFGQD LSAGRPKEKS LVLVKLEPWL CRVHLEGTQR
EGVSSLDSSS LSLCLSSANS LYDDIECFLM ELEQPA*
mutated AA sequence MPVPERPAAG PDSPRPGTRR AAPRVLFGEW LLGEISSGCY EGLQWLDEAR TCFRVPWKHF
ARKDLSEADA RIFKAWAVAR GRWPPSSRGG GPPPEAETAE RAGWKTNFRC ALRSTRRFVM
LRDNSGDPAD PHKVYALSRE LCWREGPGTD QTEAEAPAAV PPPQGGPPGP FLAHTHAGLQ
APGPLPAPAG DEGDLLLQAV QQSCLADHLL TASWGADPVP TKAPGEGQEG LPLTGACAGG
PGLPAGELYG WAVETTPSPG PQPAALTTGE AAAPESPHQA EPYLSPSPSA CTAVQEPSPG
ALDVTIMYKG RTVLQKVVGH PSCTFLYGPP DPAVRATDPQ QVAFPSPAEL PDQKQLRYTE
ELLRHVAPGL HLELRGPQLW ARRMGKCKVY WEVGGPPGSA SPSTPACLLP RNCDTPIFDF
RVFFQELVEF RARQRRGSPR YTIYLGFGQD LSAGRPKEKS LVLVKLEPWL CRVHLEGTQR
EGVSSLDSSS LSLCLSSANS LYDDIECFLM ELEQPA*
speed 1.00 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