Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 3.84929289351042e-26 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:38055612A>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF571
Ensembl transcript ID ENST00000590751
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.30062T>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs4802029
databasehomozygous (T/T)heterozygousallele carriers
1000G40510341439
ExAC49542173826692
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.020.228
4.1230.538
(flanking)1.7030.507
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 8549
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 185 / 185
chromosome 19
strand -1
last intron/exon boundary 321
theoretical NMD boundary in CDS 86
length of CDS 429
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
N/A
gDNA position
(for ins/del: last normal base / first normal base)
30062
chromosomal position
(for ins/del: last normal base / first normal base)
38055612
original gDNA sequence snippet CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC
altered gDNA sequence snippet CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLEPART REEQHNLPVP
KAGSVNLAAG FGHSRSQTGC GSSKGAEKGL QNVDFYLCPG NHPDTSCRDT YQFFCPDWTC
VTLATYSGGS TRSSFHNSCF SS*
mutated AA sequence N/A
speed 0.80 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