Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99485823494645 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:43462422A>TN/A show variant in all transcripts   IGV
HGNC symbol EPSTI1
Ensembl transcript ID ENST00000313640
Genbank transcript ID NM_001002264
UniProt peptide Q96J88
alteration type single base exchange
alteration region CDS
DNA changes c.1197T>A
cDNA.1262T>A
g.103986T>A
AA changes N399K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 399
frameshift no
known variant Reference ID: rs1044856
databasehomozygous (T/T)heterozygousallele carriers
1000G99590689
ExAC49432214027083
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2350.913
0.0550.913
(flanking)2.7280.935
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1039810.60mu: TCATATTTAAACTCT ATAT|ttaa
distance from splice site 217
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      399CLEELIPELIFNLYCQGNATLFF*
mutated  not conserved    399CLEELIPELIFKLYCQGNATLFF
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000014926  399CLEELITELM-NLYCQGNATLFF
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000022014  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000094578  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1233 / 1233
position (AA) of stopcodon in wt / mu AA sequence 411 / 411
position of stopcodon in wt / mu cDNA 1298 / 1298
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 66 / 66
chromosome 13
strand -1
last intron/exon boundary 1046
theoretical NMD boundary in CDS 930
length of CDS 1233
coding sequence (CDS) position 1197
cDNA position
(for ins/del: last normal base / first normal base)		 1262
gDNA position
(for ins/del: last normal base / first normal base)		 103986
chromosomal position
(for ins/del: last normal base / first normal base)		 43462422
original gDNA sequence snippet ATTCCTGAACTCATATTTAATCTCTACTGCCAGGGAAATGC
altered gDNA sequence snippet ATTCCTGAACTCATATTTAAACTCTACTGCCAGGGAAATGC
original cDNA sequence snippet ATTCCTGAACTCATATTTAATCTCTACTGCCAGGGAAATGC
altered cDNA sequence snippet ATTCCTGAACTCATATTTAAACTCTACTGCCAGGGAAATGC
wildtype AA sequence MNTRNRVVNS GLGASPASRP TRDPQDPSGR QGELSPVEDQ REGLEAAPKG PSRESVVHAG
QRRTSAYTLI APNINRRNEI QRIAEQELAN LEKWKEQNRA KPVHLVPRRL GGSQSETEVR
QKQQLQLMQS KYKQKLKREE SVRIKKEAEE AELQKMKAIQ REKSNKLEEK KRLQENLRRE
AFREHQQYKT AEFLSKLNTE SPDRSACQSA VCGPQSSTWK LPILPRDHSW ARSWAYRDSL
KAEENRKLQK MKDEQHQKSE LLELKRQQQE QERAKIHQTE HRRVNNAFLD RLQGKSQPGG
LEQSGGCWNM NSGNSWGSLL VFSRHLRVYE KILTPIWPSS TDLEKPHEML FLNVILFSLT
VFTLISTAHT LDRAVRSDWL LLVLIYACLE ELIPELIFNL YCQGNATLFF *
mutated AA sequence MNTRNRVVNS GLGASPASRP TRDPQDPSGR QGELSPVEDQ REGLEAAPKG PSRESVVHAG
QRRTSAYTLI APNINRRNEI QRIAEQELAN LEKWKEQNRA KPVHLVPRRL GGSQSETEVR
QKQQLQLMQS KYKQKLKREE SVRIKKEAEE AELQKMKAIQ REKSNKLEEK KRLQENLRRE
AFREHQQYKT AEFLSKLNTE SPDRSACQSA VCGPQSSTWK LPILPRDHSW ARSWAYRDSL
KAEENRKLQK MKDEQHQKSE LLELKRQQQE QERAKIHQTE HRRVNNAFLD RLQGKSQPGG
LEQSGGCWNM NSGNSWGSLL VFSRHLRVYE KILTPIWPSS TDLEKPHEML FLNVILFSLT
VFTLISTAHT LDRAVRSDWL LLVLIYACLE ELIPELIFKL YCQGNATLFF *
speed 1.27 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