Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999969188240947 (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) chr16:81061827G>AN/A show variant in all transcripts   IGV
HGNC symbol CENPN
Ensembl transcript ID ENST00000439957
Genbank transcript ID NM_001270473
UniProt peptide Q96H22
alteration type single base exchange
alteration region CDS
DNA changes c.802G>A
cDNA.883G>A
g.21725G>A
AA changes E268K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 268
frameshift no
known variant Reference ID: rs2549887
databasehomozygous (A/A)heterozygousallele carriers
1000G98810152003
ExAC31537-303071230
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5540.049
-0.1880.049
(flanking)2.6470.987
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased21718wt: 0.7264 / mu: 0.7385 (marginal change - not scored)wt: TTGGCTGAGAGGGAA
mu: TTGGCTGAGAGGAAA		 GGCT|gaga
Donor gained217200.31mu: GGCTGAGAGGAAAGA CTGA|gagg
distance from splice site 52
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      268SGLNGSILAEREEPLRCLIKFSSP
mutated  all conserved    268SGLNGSILAERKEPLRCLIKFSS
Ptroglodytes  all identical  ENSPTRG00000008383  288SGLNGSILAEREEPLRCLIKFSS
Mmulatta  all identical  ENSMMUG00000013082  288SDLNGSILAEREKPLRCLIKFSS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031756  286SNIGGGLLADRKEPFRCLVKFSS
Ggallus  all conserved  ENSGALG00000013494  283SDPKWDVL-EKKEPFRCLVKFSS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000043640  279G--NGNLTVSDREEFFRGVV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000170  284AESIMGGNLTAGNEPFRCVVK
protein features
start (aa)end (aa)featuredetails 
282282MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 960 / 960
position (AA) of stopcodon in wt / mu AA sequence 320 / 320
position of stopcodon in wt / mu cDNA 1041 / 1041
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 82 / 82
chromosome 16
strand 1
last intron/exon boundary 959
theoretical NMD boundary in CDS 827
length of CDS 960
coding sequence (CDS) position 802
cDNA position
(for ins/del: last normal base / first normal base)		 883
gDNA position
(for ins/del: last normal base / first normal base)		 21725
chromosomal position
(for ins/del: last normal base / first normal base)		 81061827
original gDNA sequence snippet GGAGCATCTTGGCTGAGAGGGAAGAACCCCTCCGATGCCTA
altered gDNA sequence snippet GGAGCATCTTGGCTGAGAGGAAAGAACCCCTCCGATGCCTA
original cDNA sequence snippet GGAGCATCTTGGCTGAGAGGGAAGAACCCCTCCGATGCCTA
altered cDNA sequence snippet GGAGCATCTTGGCTGAGAGGAAAGAACCCCTCCGATGCCTA
wildtype AA sequence MDETVAEFIK RTILKIPMNE LTTILKAWDF LSENQLQTVN FRQRKESVVQ HLIHLCEEKR
ASISDAALLD IICEDVDLFD MKQFKNSFKK ILQRALKNVT VSFRETEENA VWIRIAWGTQ
YTKPNQYKPT YVVYYSQTPY AFTSSSMLRR NTPLLGQALT IASKHHQIVK MDLRSRYLDS
LKAIVFKQYN QTFETHNSTT PLQERSLGLD INMDSRIIHE NIVEKERVQR ITQETFGDYP
QPQLEFAQYK LETKFKSGLN GSILAEREEP LRCLIKFSSP HLLEALKSLA PAGIADAPLS
PLLTCIPNKR MNYFKIRDK*
mutated AA sequence MDETVAEFIK RTILKIPMNE LTTILKAWDF LSENQLQTVN FRQRKESVVQ HLIHLCEEKR
ASISDAALLD IICEDVDLFD MKQFKNSFKK ILQRALKNVT VSFRETEENA VWIRIAWGTQ
YTKPNQYKPT YVVYYSQTPY AFTSSSMLRR NTPLLGQALT IASKHHQIVK MDLRSRYLDS
LKAIVFKQYN QTFETHNSTT PLQERSLGLD INMDSRIIHE NIVEKERVQR ITQETFGDYP
QPQLEFAQYK LETKFKSGLN GSILAERKEP LRCLIKFSSP HLLEALKSLA PAGIADAPLS
PLLTCIPNKR MNYFKIRDK*
speed 0.61 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