Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 5.59268526953699e-18 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:108956433C>TN/A show variant in all transcripts   IGV
HGNC symbol ISCU
Ensembl transcript ID ENST00000338291
Genbank transcript ID N/A
UniProt peptide Q9H1K1
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.52C>T
g.76C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2287555
databasehomozygous (T/T)heterozygousallele carriers
1000G72810861814
ExAC165924374096
regulatory features ATF3, Transcription Factor, ATF3 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Jund, Transcription Factor, Jund TF binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Srf, Transcription Factor, Srf TF binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)3.0660.995
1.750.934
(flanking)-0.9610.097
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -47) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased67wt: 0.8977 / mu: 0.9070 (marginal change - not scored)wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC
mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC		 gtct|GAGG
Acc marginally increased69wt: 0.8106 / mu: 0.8296 (marginal change - not scored)wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG
mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG		 ctga|GGCG
Donor increased69wt: 0.57 / mu: 0.82wt: GTCTGAGGCGGGCGG
mu: GTCTGAGGCGGGTGG		 CTGA|ggcg
distance from splice site 52
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
134TRANSITMitochondrion (Potential).might get lost (downstream of altered splice site)
77CONFLICTF -> G (in Ref. 1; AAG37428 and 3; AAH11906).might get lost (downstream of altered splice site)
1414MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 189 / 189
chromosome 12
strand 1
last intron/exon boundary 632
theoretical NMD boundary in CDS 393
length of CDS 390
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 52
gDNA position
(for ins/del: last normal base / first normal base)		 76
chromosomal position
(for ins/del: last normal base / first normal base)		 108956433
original gDNA sequence snippet GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC
altered gDNA sequence snippet GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC
original cDNA sequence snippet GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC
altered cDNA sequence snippet GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC
wildtype AA sequence MVLIDMSVDL STQVVDHYEN PRNVGSLDKT SKNVGTGLVG APACGDVMKL QIQVDEKGKI
VDARFKTFGC GSAIASSSLA TEWVKGKTVE EALTIKNTDI AKELCLPPVK LHCSKSVLFP
AEEKTQLSP*
mutated AA sequence N/A
speed 0.90 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