Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999931413526 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr4:1087531T>CN/A show variant in all transcripts   IGV
HGNC symbol RNF212
Ensembl transcript ID ENST00000382968
Genbank transcript ID NM_194439
UniProt peptide Q495C1
alteration type single base exchange
alteration region intron
DNA changes g.19820A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs615381
databasehomozygous (C/C)heterozygousallele carriers
1000G161566727
ExAC9810811179
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.020.001
-1.6050
(flanking)-0.5430
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19815wt: 0.37 / mu: 0.48wt: ATTCACACCAAGTCCCCTTGGGGCCAGAAGTTGCTTGAGTT
mu: ATTCACACCAAGTCCCCTTGGGGCCGGAAGTTGCTTGAGTT		 ttgg|GGCC
distance from splice site 2905
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
91124COILEDPotential.might get lost (downstream of altered splice site)
147147CONFLICTP -> Q (in Ref. 2; AAH50356).might get lost (downstream of altered splice site)
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 99 / 99
chromosome 4
strand -1
last intron/exon boundary 673
theoretical NMD boundary in CDS 524
length of CDS 699
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)		 19820
chromosomal position
(for ins/del: last normal base / first normal base)		 1087531
original gDNA sequence snippet CACCAAGTCCCCTTGGGGCCAGAAGTTGCTTGAGTTCATAA
altered gDNA sequence snippet CACCAAGTCCCCTTGGGGCCGGAAGTTGCTTGAGTTCATAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MANWVFCNRC FQPPHRTSCF SLTNCGHVYC DACLGKGKKN ECLICKAPCR TVLLSKHTDA
DIQAFFMSID SLCKKYSRET SQILEFQEKH RKRLLAFYRE KISRLEESLR KSVLQIEQLQ
SMRSSQQTAF STIKSSVSTK PHGCLLPPHS SAPDRLESME VDLSPSPIRK SEIAAGPARI
SMISPPQDGR MAPCARRVCH FQRFTMFLHR RLSSLAAPPS VQFWKARGTH QL*
mutated AA sequence N/A
speed 0.69 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