Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999971712 (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 ENST00000525445
Genbank transcript ID N/A
UniProt peptide Q92985
alteration type single base exchange
alteration region CDS
DNA changes c.217A>G
cDNA.519A>G
g.1682A>G
AA changes K73E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 73
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      73APGPLPAPAGDKGDLLLQAVQQSC
mutated  all conserved    73APGPLPAPAGDEGDLLLQAVQQS
Ptroglodytes  all identical  ENSPTRG00000003126  198SPGALDVTIMYKGRTVLQKV
Mmulatta  all identical  ENSMMUG00000004014  193APGPFPAPAGDKGDLLLQAVQQS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000025498  179PSPLLS--SDAGDLLLQVLQYS
Ggallus  all conserved  ENSGALG00000014297  163XXXXVAAAALTQVDLDLLQSVLQH
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 
11126DNA_BINDIRF tryptophan pentad repeat.lost
84102HELIXmight get lost (downstream of altered splice site)
9090MUTAGENG->T: Loss of acetylation, increased DNA- binding and activity; when associated with R-93.might get lost (downstream of altered splice site)
9292MUTAGENK->R: Loss of acetylation, DNA-binding and activity.might get lost (downstream of altered splice site)
9292MOD_RESN6-acetyllysine; by KAT2A and KAT2B.might get lost (downstream of altered splice site)
9393MUTAGENT->R: Loss of acetylation, increased DNA- binding and activity; when associated with T-90.might get lost (downstream of altered splice site)
105112STRANDmight get lost (downstream of altered splice site)
119125STRANDmight get lost (downstream of altered splice site)
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 1194 / 1194
position (AA) of stopcodon in wt / mu AA sequence 398 / 398
position of stopcodon in wt / mu cDNA 1496 / 1496
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 303 / 303
chromosome 11
strand -1
last intron/exon boundary 1341
theoretical NMD boundary in CDS 988
length of CDS 1194
coding sequence (CDS) position 217
cDNA position
(for ins/del: last normal base / first normal base)		 519
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 MLRDNSGDPA DPHKVYALSR ELCWREGPGT DQTEAEAPAA VPPPQGGPPG PFLAHTHAGL
QAPGPLPAPA GDKGDLLLQA VQQSCLADHL LTASWGADPV PTKAPGEGQE GLPLTGACAG
GPGLPAGELY GWAVETTPSP GPQPAALTTG EAAAPESPHQ AEPYLSPSPS ACTAVQEPSP
GALDVTIMYK GRTVLQKVVG HPSCTFLYGP PDPAVRATDP QQVAFPSPAE LPDQKQLRYT
EELLRHVAPG LHLELRGPQL WARRMGKCKV YWEVGGPPGS ASPSTPACLL PRNCDTPIFD
FRVFFQELVE FRARQRRGSP RYTIYLGFGQ DLSAGRPKEK SLVLVKLEPW LCRVHLEGTQ
REGVSSLDSS SLSLCLSSAN SLYDDIECFL MELEQPA*
mutated AA sequence MLRDNSGDPA DPHKVYALSR ELCWREGPGT DQTEAEAPAA VPPPQGGPPG PFLAHTHAGL
QAPGPLPAPA GDEGDLLLQA VQQSCLADHL LTASWGADPV PTKAPGEGQE GLPLTGACAG
GPGLPAGELY GWAVETTPSP GPQPAALTTG EAAAPESPHQ AEPYLSPSPS ACTAVQEPSP
GALDVTIMYK GRTVLQKVVG HPSCTFLYGP PDPAVRATDP QQVAFPSPAE LPDQKQLRYT
EELLRHVAPG LHLELRGPQL WARRMGKCKV YWEVGGPPGS ASPSTPACLL PRNCDTPIFD
FRVFFQELVE FRARQRRGSP RYTIYLGFGQ DLSAGRPKEK SLVLVKLEPW LCRVHLEGTQ
REGVSSLDSS SLSLCLSSAN SLYDDIECFL MELEQPA*
speed 0.62 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