Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 3.22676840887282e-05 (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) chr19:38056763C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF540
Ensembl transcript ID ENST00000592533
Genbank transcript ID NM_152606
UniProt peptide Q8NDQ6
alteration type single base exchange
alteration region intron
DNA changes g.14456C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4330.004
-1.7530.003
(flanking)3.6850.924
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
Donor increased14455wt: 0.55 / mu: 0.98wt: ACCAGTCTGAATTCT
mu: ACCAGTGTGAATTCT		 CAGT|ctga
Donor gained144500.64mu: TTCTCACCAGTGTGA CTCA|ccag
distance from splice site 14196
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
677DOMAINKRAB.might get lost (downstream of altered splice site)
127127CONFLICTE -> G (in Ref. 2; CAD97942).might get lost (downstream of altered splice site)
140140MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
187209ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
215237ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
243265ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
271293ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
299321ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
327349ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
355377ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
383405ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
411433ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
439461ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
467489ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
495517ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
523545ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
551573ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
579601ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
607629ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
635657ZN_FINGC2H2-type 17.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 333 / 333
chromosome 19
strand 1
last intron/exon boundary 565
theoretical NMD boundary in CDS 182
length of CDS 1983
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)		 14456
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet TCATAAGGTTTCTCACCAGTCTGAATTCTCTGATGTTGAAT
altered gDNA sequence snippet TCATAAGGTTTCTCACCAGTGTGAATTCTCTGATGTTGAAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAHALVTFRD VAIDFSQKEW ECLDTTQRKL YRDVMLENYN NLVSLGYSGS KPDVITLLEQ
GKEPCVVARD VTGRQCPGLL SRHKTKKLSS EKDIHEISLS KESIIEKSKT LRLKGSIFRN
EWQNKSEFEG QQGLKERSIS QKKIVSKKMS TDRKRPSFTL NQRIHNSEKS CDSHLVQHGK
IDSDVKHDCK ECGSTFNNVY QLTLHQKIHT GEKSCKCEKC GKVFSHSYQL TLHQRFHTGE
KPYECQECGK TFTLYPQLNR HQKIHTGKKP YMCKKCDKGF FSRLELTQHK RIHTGKKSYE
CKECGKVFQL IFYFKEHERI HTGKKPYECK ECGKAFSVCG QLTRHQKIHT GVKPYECKEC
GKTFRLSFYL TEHRRTHAGK KPYECKECGK SFNVRGQLNR HKTIHTGIKP FACKVCEKAF
SYSGDLRVHS RIHTGEKPYE CKECGKAFML RSVLTEHQRL HTGVKPYECK ECGKTFRVRS
QISLHKKIHT DVKPYKCVRC GKTFRFGFYL TEHQRIHTGE KPYKCKECGK AFIRRGNLKE
HLKIHSGLKP YDCKECGKSF SRRGQFTEHQ KIHTGVKPYK CKECGKAFSR SVDLRIHQRI
HTGEKPYECK QCGKAFRLNS HLTEHQRIHT GEKPYECKVC RKAFRQYSHL YQHQKTHNVI
*
mutated AA sequence N/A
speed 0.74 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