Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known as potential disease variant: rs18358 (probable pathogenic)
  • known disease mutation at this position (HGMD CM970309)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:4802804G>AN/A show variant in all transcripts   IGV
HGNC symbol C17orf107
Ensembl transcript ID ENST00000521575
Genbank transcript ID N/A
UniProt peptide Q6ZR85
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.92G>A
g.92G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121909515
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs18358 (probable pathogenic for Congenital myasthenic syndrome 4C|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970309)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970309)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970309)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H2AZ, Histone, Histone 2A variant Z
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1821
1.3150.959
(flanking)0.3320.709
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -83) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased96wt: 0.9835 / mu: 0.9902 (marginal change - not scored)wt: CGCTGGGACACGTTG
mu: CACTGGGACACGTTG		 CTGG|gaca
Donor gained940.39mu: TCCACTGGGACACGT CACT|ggga
distance from splice site 92
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
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 346 / 346
chromosome 17
strand 1
last intron/exon boundary 412
theoretical NMD boundary in CDS 16
length of CDS 297
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 92
gDNA position
(for ins/del: last normal base / first normal base)		 92
chromosomal position
(for ins/del: last normal base / first normal base)		 4802804
original gDNA sequence snippet GGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGA
altered gDNA sequence snippet GGCGTGGGTGGTGGGCGTCCACTGGGACACGTTGAGCACGA
original cDNA sequence snippet GGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGA
altered cDNA sequence snippet GGCGTGGGTGGTGGGCGTCCACTGGGACACGTTGAGCACGA
wildtype AA sequence MKGTPSSLDT LMWIYHFHSS TEVALQPPLL SSLELSVAAA HEYLEQRFRE LKSLEPPEPK
MQGMLPAPKP TLGLVLREAT ASLVSFGTTL LEVGYWGA*
mutated AA sequence N/A
speed 0.99 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