Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999727 (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) chr11:71498601G>TN/A show variant in all transcripts   IGV
HGNC symbol FAM86C1
Ensembl transcript ID ENST00000346333
Genbank transcript ID NM_152563
UniProt peptide Q9NVL1
alteration type single base exchange
alteration region CDS
DNA changes c.19G>T
cDNA.46G>T
g.46G>T
AA changes A7S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 7
frameshift no
known variant Reference ID: rs12283300
databasehomozygous (T/T)heterozygousallele carriers
1000G55711291686
ExAC2944782610770
regulatory features Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.6950
0.2770
(flanking)-1.4710
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased49wt: 0.34 / mu: 0.60wt: ACGCGGGGAGCGAAC
mu: ACTCGGGGAGCGAAC		 GCGG|ggag
Donor increased39wt: 0.84 / mu: 0.96wt: CCCGAGGAGAACGCG
mu: CCCGAGGAGAACTCG		 CGAG|gaga
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      7 MAPEENAGSELLLQSFKRR
mutated  all conserved    7 MAPEENSGSELLLQSFKRRFLA
Ptroglodytes  all identical  ENSPTRG00000007738  7 MAPEENAGSELLLQSFKRRFLA
Mmulatta  all identical  ENSMMUG00000029240  7 MAPEEDAGTELLLQSFERRFLA
Fcatus  no alignment  ENSFCAG00000018810  n/a
Mmusculus  not conserved  ENSMUSG00000022544  7 MAPEDHEGATSLLQSFERRFLA
Ggallus  no alignment  ENSGALG00000002044  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000054950  n/a
Dmelanogaster  no alignment  FBgn0031003  n/a
Celegans  no alignment  R08D7.4  n/a
Xtropicalis  no alignment  ENSXETG00000033667  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 396 / 396
position (AA) of stopcodon in wt / mu AA sequence 132 / 132
position of stopcodon in wt / mu cDNA 423 / 423
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 28 / 28
chromosome 11
strand 1
last intron/exon boundary 337
theoretical NMD boundary in CDS 259
length of CDS 396
coding sequence (CDS) position 19
cDNA position
(for ins/del: last normal base / first normal base)		 46
gDNA position
(for ins/del: last normal base / first normal base)		 46
chromosomal position
(for ins/del: last normal base / first normal base)		 71498601
original gDNA sequence snippet TCATGGCGCCCGAGGAGAACGCGGGGAGCGAACTCTTGCTG
altered gDNA sequence snippet TCATGGCGCCCGAGGAGAACTCGGGGAGCGAACTCTTGCTG
original cDNA sequence snippet TCATGGCGCCCGAGGAGAACGCGGGGAGCGAACTCTTGCTG
altered cDNA sequence snippet TCATGGCGCCCGAGGAGAACTCGGGGAGCGAACTCTTGCTG
wildtype AA sequence MAPEENAGSE LLLQSFKRRF LAARALRSFR WQSLEAKLRD SSDSELLRDI LQKTCCIAQK
PSCRWSGSCG GWLPAGSTSG LLNSTWPLPS ATQRCASCSP PSYAGLGSDG KRKLIMTRNC
FPTESTWRWQ S*
mutated AA sequence MAPEENSGSE LLLQSFKRRF LAARALRSFR WQSLEAKLRD SSDSELLRDI LQKTCCIAQK
PSCRWSGSCG GWLPAGSTSG LLNSTWPLPS ATQRCASCSP PSYAGLGSDG KRKLIMTRNC
FPTESTWRWQ S*
speed 0.36 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