Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0236531893078002 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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 ENST00000547005
Genbank transcript ID N/A
UniProt peptide Q9H1K1
alteration type single base exchange
alteration region CDS
DNA changes c.35C>T
cDNA.57C>T
g.76C>T
AA changes A12V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 12
frameshift no
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
effectgDNA positionscorewt detection 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 57
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      12MAAAGAFRLRRAASALLLRSPRLP
mutated  not conserved    12MAAAGAFRLRRVASALLLRSPRL
Ptroglodytes  all identical  ENSPTRG00000040156  12MAAAGAGRLRRAASALLLRSPRL
Mmulatta  all identical  ENSMMUG00000017126  12MAAAGAGRLRRAASALLLRSPRL
Fcatus  all identical  ENSFCAG00000014044  12MAAAGAGRLRRAASALLLRSPRV
Mmusculus  all identical  ENSMUSG00000025825  13AATGAGRLRRAASALLLRSPRL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000035596  12MALAAAAR-RCASSALFSKSLSL
Dmelanogaster  no alignment  FBgn0037637  n/a
Celegans  all conserved  Y45F10D.4  7SAAKTLLHKFAL
Xtropicalis  no alignment  ENSXETG00000027428  n/a
protein features
start (aa)end (aa)featuredetails 
134TRANSITMitochondrion (Potential).lost
1414MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 465 / 465
position (AA) of stopcodon in wt / mu AA sequence 155 / 155
position of stopcodon in wt / mu cDNA 487 / 487
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 23 / 23
chromosome 12
strand 1
last intron/exon boundary 527
theoretical NMD boundary in CDS 454
length of CDS 465
coding sequence (CDS) position 35
cDNA position
(for ins/del: last normal base / first normal base)		 57
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 MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSK SVLFPAEEKT QLSP*
mutated AA sequence MAAAGAFRLR RVASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSK SVLFPAEEKT QLSP*
speed 0.95 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