Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999882853067      (explain)
Summary
    		hyperlink
    analysed issue analysis result
    name of alteration no title
    alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
    HGNC symbol ZNF83
    Ensembl transcript ID ENST00000391789
    Genbank transcript ID NM_001105553
    UniProt peptide N/A
    alteration type single base exchange
    alteration region intron
    DNA changes g.76793A>G
    AA changes N/A
    position(s) of altered AA
    if AA alteration in CDS    		 N/A
    frameshift N/A
    known variant Reference ID: rs113015820
    databasehomozygous (C/C)heterozygousallele carriers
    1000G---
    ExAC099
    regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
    H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
    H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
    H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
    phyloP / phastCons
    PhyloPPhastCons
    (flanking)-0.4970.027
    0.2640.01
    (flanking)-0.9870
    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 20
    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 1 / 1
    chromosome 19
    strand -1
    last intron/exon boundary 805
    theoretical NMD boundary in CDS 754
    length of CDS 1467
    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)    		 76793
    chromosomal position
    (for ins/del: last normal base / first normal base)    		 53116949
    original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
    altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
    original cDNA sequence snippet N/A
    altered cDNA sequence snippet N/A
    wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
    STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
    FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
    ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
    VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF SHKSSLVNHW RIHTGEKPYK CNECGKVFSH
    KSSLVNHWRI HTGEKPYKCN ECGKVFSRNS YLAQHLIIHA GEKPYKCDEC DKAFSQNSHL
    VQHHRIHTGE KPYKCDECGK VFSQNSYLAY HWRIHTGEKA YKCNECGKVF GLNSSLAHHR
    KIHTGEKPFK CNECGKAFSM RSSLTNHHAI HTGEKHFKCN ECGKLFRDNS YLVRHQRFHA
    GKKSNTCN*
    mutated AA sequence N/A
    speed 0.91 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