Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999995182121095 (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) chr8:363192G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXO25
Ensembl transcript ID ENST00000382824
Genbank transcript ID N/A
UniProt peptide Q8TCJ0
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.121G>A
g.6765G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs10090550
databasehomozygous (A/A)heterozygousallele carriers
1000G9619221883
ExAC12964683919803
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0590.002
-0.010
(flanking)-0.5890
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -12) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased6767wt: 0.42 / mu: 0.76wt: ACCGTTGTAACATCA
mu: ACCATTGTAACATCA		 CGTT|gtaa
Donor marginally increased6762wt: 0.5421 / mu: 0.5673 (marginal change - not scored)wt: GAATAACCGTTGTAA
mu: GAATAACCATTGTAA		 ATAA|ccgt
distance from splice site 22
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with beta-actin.might get lost (downstream of altered splice site)
8796CONFLICTIYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
121121CONFLICTR -> T (in Ref. 4; AAF04526).might get lost (downstream of altered splice site)
226274DOMAINF-box.might get lost (downstream of altered splice site)
244244MUTAGENS->L: Loss of SKP1-binding.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 160 / 160
chromosome 8
strand 1
last intron/exon boundary 946
theoretical NMD boundary in CDS 736
length of CDS 876
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 121
gDNA position
(for ins/del: last normal base / first normal base)		 6765
chromosomal position
(for ins/del: last normal base / first normal base)		 363192
original gDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered gDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
original cDNA sequence snippet ACTTGAAAGAGAGAATAACCGTTGTAACATCAGTCACAGCA
altered cDNA sequence snippet ACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCA
wildtype AA sequence MEKYSIMKSM NMHRKKGKRT ILEMTQILKR HGYCTLGEAF NRLDFSSAIQ DIRRFNYVVK
LLQLIAKSQL TSLSGVAQKN YFNILDKIVQ KVLDDHHNPR LIKDLLQDLS STLCILIRGV
GKSVLVGNIN IWICRLETIL AWQQQLQDLQ MTKQVNNGLT LSDLPLHMLN NILYRFSDGW
DIITLGQVTP TLYMLSEDRQ LWKKLCQYHF AEKQFCRHLI LSEKGHIEWK LMYFALQKHY
PAKEQYGDTL HFCRHCSILF WKDSGHPCTA ADPDSCFTPV SPQHFIDLFK F*
mutated AA sequence N/A
speed 0.31 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