Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999437693872607 (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) chr1:1551927T>CN/A show variant in all transcripts   IGV
HGNC symbol MIB2
Ensembl transcript ID ENST00000378712
Genbank transcript ID NM_001170689
UniProt peptide N/A
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.236T>C
g.1133T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7418389
databasehomozygous (C/C)heterozygousallele carriers
1000G64610971743
ExAC19576-638513191
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4410.014
-0.1620.014
(flanking)1.5380.024
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 increased1130wt: 0.3049 / mu: 0.3196 (marginal change - not scored)wt: CCCAAAGTTTCCAGG
mu: CCCAAAGTCTCCAGG		 CAAA|gttt
Donor marginally increased1137wt: 0.6059 / mu: 0.6477 (marginal change - not scored)wt: TTTCCAGGCATCAGG
mu: TCTCCAGGCATCAGG		 TCCA|ggca
distance from splice site 40
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 326 / 326
chromosome 1
strand 1
last intron/exon boundary 2578
theoretical NMD boundary in CDS 2202
length of CDS 2262
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 236
gDNA position
(for ins/del: last normal base / first normal base)		 1133
chromosomal position
(for ins/del: last normal base / first normal base)		 1551927
original gDNA sequence snippet CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG
altered gDNA sequence snippet CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG
original cDNA sequence snippet CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG
altered cDNA sequence snippet CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG
wildtype AA sequence MDPDPQAGVQ VGMRVVRGVD WKWGQQDGGE GGVGTVVELG RHGSPSTPDR TVVVQWDQGT
RTNYRAGYQG AHDLLLYDNA QIGVRHPNII CDCCKKHGLR GMRWKCRVCL DYDLCTQCYM
HNKHELAHAF DRYETAHSRP VTLSPRQGLP RIPLRGIFQG AKVVRGPDWE WGSQDGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAEFIGQTGT VHRITDRGDV
RVQFNHETRW TFHPGALTKH HSFWVGDVVR VIGDLDTVKR LQAGHGEWTD DMAPALGRVG
KVVKVFGDGN LRVAVAGQRW TFSPSCLVAY RPEEDANLDV AERARENKSS LSVALDKLRA
QKSDPEHPGR LVVEVALGNA ARALDLLRRR PEQVDTKNQG RTALQVAAYL GQVELIRLLL
QARAGVDLPD DEGNTALHYA ALGNQPEATR VLLSAGCRAD AINSTQSTAL HVAVQRGFLE
VVRALCERGC DVNLPDAHSD TPLHSAISAG TGASGIVEVL TEVPNIDVTA TNSQGFTLLH
HASLKGHALA VRKILARARQ LVDAKKEDGF TALHLAALNN HREVAQILIR EGRCDVNVRN
RKLQSPLHLA VQQAHVGLVP LLVDAGCSVN AEDEEGDTAL HVALQRHQLL PLVADGAGGD
PGPLQLLSRL QASGLPGSAE LTVGAAVACF LALEGADVSY TNHRGRSPLD LAAEGRVLKA
LQGCAQRFRV RAQDEEVHQV PGGRQQETAP RRL*
mutated AA sequence N/A
speed 0.30 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