Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999891451905 (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) chr19:53075519G>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF701
Ensembl transcript ID ENST00000391785
Genbank transcript ID NM_018260
UniProt peptide Q9NV72
alteration type single base exchange
alteration region intron
DNA changes g.1994G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8104138
databasehomozygous (T/T)heterozygousallele carriers
1000G31511161431
ExAC97723033280
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.210.018
0.210.016
(flanking)-1.1270.013
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -23) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased1992wt: 0.41 / mu: 0.63wt: GGGGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGA
mu: GGGGTTTCTCCATGTTGGTCAGTATGGTCTCGAACTCCCGA		 gtca|GGAT
Donor increased1992wt: 0.77 / mu: 0.87wt: TGGTCAGGATGGTCT
mu: TGGTCAGTATGGTCT		 GTCA|ggat
Donor gained19870.74mu: CATGTTGGTCAGTAT TGTT|ggtc
distance from splice site 1811
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
880DOMAINKRAB.might get lost (downstream of altered splice site)
270292ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
298320ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
326348ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
354376ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
382404ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 7.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 130 / 130
chromosome 19
strand 1
last intron/exon boundary 272
theoretical NMD boundary in CDS 92
length of CDS 1398
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)		 1994
chromosomal position
(for ins/del: last normal base / first normal base)		 53075519
original gDNA sequence snippet GGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACA
altered gDNA sequence snippet GGTTTCTCCATGTTGGTCAGTATGGTCTCGAACTCCCGACA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALLQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDTS SKCMMKMFSS
TGQGNTEVVH TGTLQIHASH HIGDTCFQEI EKDIHDFVFQ WQENETNGHE ALMTKTKKLM
SSTERHDQRH AGNKPIKNEL GSSFHSHLPE VHIFHPEGKI GNQVEKAIND AFSVSASQRI
SCRPKTRISN KYRNNFLQSS LLTQKREVHT REKSFQRNES GKAFNGSSLL KKHQIIHLGD
KQYKCDVCGK DFHQKRYLAC HRCHTGENPY TCNECGKTFS HNSALLVHKA IHTGEKPYKC
NECGKVFNQQ SNLARHHRVH TGEKPYKCEE CDKVFSRKSH LERHRRIHTG EKPYKCKVCD
KAFRRDSHLA QHTVIHTGEK PYKCNECGKT FVQNSSLVMH KVIHTGEKRY KCNECGKVFN
HKSNLACHRR LHTGEKPYKC NECGKVFNRK SNLERHHRLH TGKKS*
mutated AA sequence N/A
speed 1.04 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