Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999947448068104 (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) chr10:21414892C>GN/A show variant in all transcripts   IGV
HGNC symbol C10orf113
Ensembl transcript ID ENST00000377118
Genbank transcript ID N/A
UniProt peptide Q5VZT2
alteration type single base exchange
alteration region CDS
DNA changes c.298G>C
cDNA.379G>C
g.20597G>C
AA changes D100H Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 100
frameshift no
known variant Reference ID: rs625223
databasehomozygous (G/G)heterozygousallele carriers
1000G81410911905
ExAC110901058721677
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5320.71
0.7690.549
(flanking)-0.5980.182
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased20592wt: 0.22 / mu: 0.76wt: TCCTGAACCAGATCC
mu: TCCTGAACCACATCC		 CTGA|acca
Donor increased20598wt: 0.57 / mu: 0.82wt: ACCAGATCCAGGCAA
mu: ACCACATCCAGGCAA		 CAGA|tcca
distance from splice site 161
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      100YKPPIQAAPEPDPGNWAKSPRLSL
mutated  not conserved    100YKPPIQAAPEPHPGNWAKSPRLS
Ptroglodytes  all identical  ENSPTRG00000029923  110YKPPIQAAPEPDPGNWAKSPRLS
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
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 438 / 438
position (AA) of stopcodon in wt / mu AA sequence 146 / 146
position of stopcodon in wt / mu cDNA 519 / 519
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 10
strand -1
last intron/exon boundary 219
theoretical NMD boundary in CDS 87
length of CDS 438
coding sequence (CDS) position 298
cDNA position
(for ins/del: last normal base / first normal base)		 379
gDNA position
(for ins/del: last normal base / first normal base)		 20597
chromosomal position
(for ins/del: last normal base / first normal base)		 21414892
original gDNA sequence snippet TCCAGGCAGCTCCTGAACCAGATCCAGGCAACTGGGCCAAG
altered gDNA sequence snippet TCCAGGCAGCTCCTGAACCACATCCAGGCAACTGGGCCAAG
original cDNA sequence snippet TCCAGGCAGCTCCTGAACCAGATCCAGGCAACTGGGCCAAG
altered cDNA sequence snippet TCCAGGCAGCTCCTGAACCACATCCAGGCAACTGGGCCAAG
wildtype AA sequence MESMAPEISE DIGCPLAYMR ESVCALLINQ SFFSCVAEMY IPDMNRPGKA ERRAEKGLRP
PRKLVGETRR LQSWPTLARW LRRVSFSLYK PPIQAAPEPD PGNWAKSPRL SLGPEGITKG
KHGFKFQGIK EKFNVSKKVL KMTFL*
mutated AA sequence MESMAPEISE DIGCPLAYMR ESVCALLINQ SFFSCVAEMY IPDMNRPGKA ERRAEKGLRP
PRKLVGETRR LQSWPTLARW LRRVSFSLYK PPIQAAPEPH PGNWAKSPRL SLGPEGITKG
KHGFKFQGIK EKFNVSKKVL KMTFL*
speed 0.66 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