Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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) chr19:9646898G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF426
Ensembl transcript ID ENST00000535489
Genbank transcript ID N/A
UniProt peptide Q9BUY5
alteration type single base exchange
alteration region CDS
DNA changes c.11C>T
cDNA.348C>T
g.2406C>T
AA changes A4V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs2042200
databasehomozygous (A/A)heterozygousallele carriers
1000G155728883
ExAC16021242514027
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0080
-0.5650
(flanking)-0.6870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2412wt: 0.69 / mu: 0.77wt: CGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTT
mu: CGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTT		 attt|GTCC
Acc increased2417wt: 0.45 / mu: 0.60wt: TGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTTGCTCT
mu: TGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTTGCTCT		 tccc|ATGG
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MAAADLSHGHYLSGDP
mutated  not conserved    4 MAAVDLSHGHYLSGDPVCLHEE
Ptroglodytes  not conserved  ENSPTRG00000010447  4 MAAVDLSHGHYLSGDPVCLHEE
Mmulatta  no alignment  ENSMMUG00000005694  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000059475  18 MAAPASSHGP--SEDSGCLQER
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
42112DOMAINKRAB.might get lost (downstream of altered splice site)
146174ZN_FINGC2H2-type 1; atypical.might get lost (downstream of altered splice site)
224246ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
280302ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
308330ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
336358ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
364386ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
392414ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
420442ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
448470ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
476498ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
504526ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
532554ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1665 / 1665
position (AA) of stopcodon in wt / mu AA sequence 555 / 555
position of stopcodon in wt / mu cDNA 2002 / 2002
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 338 / 338
chromosome 19
strand -1
last intron/exon boundary 746
theoretical NMD boundary in CDS 358
length of CDS 1665
coding sequence (CDS) position 11
cDNA position
(for ins/del: last normal base / first normal base)		 348
gDNA position
(for ins/del: last normal base / first normal base)		 2406
chromosomal position
(for ins/del: last normal base / first normal base)		 9646898
original gDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGC
altered gDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGC
original cDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGACATT
altered cDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGACATT
wildtype AA sequence MAAADLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGW EMRLETQWSI
LQQDFLRGQT SIGIQLEGKH NGRELCDCEQ CGEVFSEHSC LKTHVRTQST GNTHDCNQYG
KDFLTLCEKT STGEKLSEFN QSEKIFSLTP NIVYQRTSTQ EKSFECSHCG KSFINESYLQ
AHMRTHNGEK LYEWRNYGPG FIDSTSLSVL IETLNAKKPY KCKECGKGYR YPAYLSIHMR
THTGEKPYEC KECGKAFNYS NSFQIHGRTH TGEKPYVCKE CGKAFTQYSG LSMHVRSHSG
DKPYECKECG KSFLTSSRLI QHIRTHTGEK PFVCVECGKA FAVSSNLSGH LRTHTEEKAC
ECKICGKVFG YPSCLNNHMR THSAQKPYTC KECGKAFNYS THLKIHMRIH TGEKPYECKQ
CGKAFSHSSS FQIHERTHTG EKPYECKECG KAFTCSSSFR IHEKTHTEEK PYKCQQCGKA
YSHPRSLRRH EQIH*
mutated AA sequence MAAVDLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGW EMRLETQWSI
LQQDFLRGQT SIGIQLEGKH NGRELCDCEQ CGEVFSEHSC LKTHVRTQST GNTHDCNQYG
KDFLTLCEKT STGEKLSEFN QSEKIFSLTP NIVYQRTSTQ EKSFECSHCG KSFINESYLQ
AHMRTHNGEK LYEWRNYGPG FIDSTSLSVL IETLNAKKPY KCKECGKGYR YPAYLSIHMR
THTGEKPYEC KECGKAFNYS NSFQIHGRTH TGEKPYVCKE CGKAFTQYSG LSMHVRSHSG
DKPYECKECG KSFLTSSRLI QHIRTHTGEK PFVCVECGKA FAVSSNLSGH LRTHTEEKAC
ECKICGKVFG YPSCLNNHMR THSAQKPYTC KECGKAFNYS THLKIHMRIH TGEKPYECKQ
CGKAFSHSSS FQIHERTHTG EKPYECKECG KAFTCSSSFR IHEKTHTEEK PYKCQQCGKA
YSHPRSLRRH EQIH*
speed 1.09 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