Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999985 (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) chr8:363192G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXO25
Ensembl transcript ID ENST00000350302
Genbank transcript ID NM_183420
UniProt peptide Q8TCJ0
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.379G>A
g.6765G>A
AA changes R38H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
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
effectgDNA positionscorewt detection 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? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38SCSQKLERENNRCNISHSIILNSE
mutated  not conserved    38SCSQKLERENNHCNISHSIILNS
Ptroglodytes  not conserved  ENSPTRG00000019933  38SCSQKLERENNHCNISHSIILNS
Mmulatta  not conserved  ENSMMUG00000011105  38SCSQKLERENNHCNISHSIILNS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038365  38PCSHELRSEDSQYTINHSIILNS
Ggallus  all conserved  ENSGALG00000016359  38PFGPALQGGNSQLNDISHTVILTGGD
Trubripes  not conserved  ENSTRUG00000014872  38YYDHKLENNNSHLQLSSPKFCGD
Drerio  not conserved  ENSDARG00000075172  38YFSHKLGDNINELGLEE--LDND
Dmelanogaster  not conserved  FBgn0036196  38ECGGKRKRHHSEGSSSYQDSDSS
Celegans  not conserved  DY3.6  38LRPVQISSEPIFIPQVSSSPTLVS
Xtropicalis  not conserved  ENSXETG00000016768  38FYCD-YERDDN----FNLHLLNV
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with beta-actin.lost
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1077 / 1077
position (AA) of stopcodon in wt / mu AA sequence 359 / 359
position of stopcodon in wt / mu cDNA 1343 / 1343
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 267 / 267
chromosome 8
strand 1
last intron/exon boundary 1254
theoretical NMD boundary in CDS 937
length of CDS 1077
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 379
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 MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNRCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL
YRFSDGWDII TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
FALQKHYPAK EQYGDTLHFC RHCSILFWKD SGHPCTAADP DSCFTPVSPQ HFIDLFKF*
mutated AA sequence MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNHCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL
YRFSDGWDII TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
FALQKHYPAK EQYGDTLHFC RHCSILFWKD SGHPCTAADP DSCFTPVSPQ HFIDLFKF*
speed 1.14 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