Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999994948324276 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:90141355A>CN/A show variant in all transcripts   IGV
HGNC symbol PRDM7
Ensembl transcript ID ENST00000407825
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.290T>G
g.17126T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs12925933
databasehomozygous (C/C)heterozygousallele carriers
1000G5169241440
ExAC20430-809312337
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9550.028
0.0420.026
(flanking)0.0410.025
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased17120wt: 0.9703 / mu: 0.9975 (marginal change - not scored)wt: GACACAGAAGATTCC
mu: GACACAGAAGAGTCC		 CACA|gaag
Donor marginally increased17118wt: 0.9891 / mu: 0.9928 (marginal change - not scored)wt: ATGACACAGAAGATT
mu: ATGACACAGAAGAGT		 GACA|caga
distance from splice site 32
Kozak consensus sequence altered? no
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 639 / 639
chromosome 16
strand -1
last intron/exon boundary 971
theoretical NMD boundary in CDS 282
length of CDS 516
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 290
gDNA position
(for ins/del: last normal base / first normal base)		 17126
chromosomal position
(for ins/del: last normal base / first normal base)		 90141355
original gDNA sequence snippet CAGGTGGATGACACAGAAGATTCCGATGAAGAATGGACACC
altered gDNA sequence snippet CAGGTGGATGACACAGAAGAGTCCGATGAAGAATGGACACC
original cDNA sequence snippet CAGGTGGATGACACAGAAGATTCCGATGAAGAATGGACACC
altered cDNA sequence snippet CAGGTGGATGACACAGAAGAGTCCGATGAAGAATGGACACC
wildtype AA sequence MCQNFFIDSC AAHGPPTFVK DSAVDKGHPN RSALSLPPGL RIGPSGIPQA GLGVWNEASD
LPLGLHFGPY EGRITEDEEA ANSGYSWLIT KGRNCYEYVD GKDKSSANWM RTKARDPSMS
LMLSGLFKSK ISQSTCGTQS LLSELPRTIC KKTSPTRESL PRGSESGAAI F*
mutated AA sequence N/A
speed 1.02 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