Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.00745045345753357 (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) chr9:131285955A>GN/A show variant in all transcripts   IGV
HGNC symbol GLE1
Ensembl transcript ID ENST00000539582
Genbank transcript ID N/A
UniProt peptide Q53GS7
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.578A>G
g.18977A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2275260
databasehomozygous (G/G)heterozygousallele carriers
1000G33610681404
ExAC47512281027561
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5080.915
0.3530.155
(flanking)0.4390.056
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -13) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased18971wt: 0.85 / mu: 1.00wt: AAGAAGGCCAGATCC
mu: AAGAAGGCCAGGTCC		 GAAG|gcca
distance from splice site 85
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
129REGIONInteraction with NUP155.might get lost (downstream of altered splice site)
8383CONFLICTS -> P (in Ref. 2; BAD96574).might get lost (downstream of altered splice site)
8888MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
151277COILEDPotential.might get lost (downstream of altered splice site)
172172CONFLICTF -> S (in Ref. 2; BAD96562).might get lost (downstream of altered splice site)
305356COILEDPotential.might get lost (downstream of altered splice site)
444483REGIONMediates the shuttling between the nucleus and the cytoplasm.might get lost (downstream of altered splice site)
549549CONFLICTR -> G (in Ref. 2; BAD96562).might get lost (downstream of altered splice site)
656698REGIONInteraction with NUPL2.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 614 / 614
chromosome 9
strand 1
last intron/exon boundary 1880
theoretical NMD boundary in CDS 1216
length of CDS 1335
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 578
gDNA position
(for ins/del: last normal base / first normal base)		 18977
chromosomal position
(for ins/del: last normal base / first normal base)		 131285955
original gDNA sequence snippet TTCGGAAGGAAGAAGGCCAGATCCGCCTGCGGGCCCTCTAT
altered gDNA sequence snippet TTCGGAAGGAAGAAGGCCAGGTCCGCCTGCGGGCCCTCTAT
original cDNA sequence snippet TTCGGAAGGAAGAAGGCCAGATCCGCCTGCGGGCCCTCTAT
altered cDNA sequence snippet TTCGGAAGGAAGAAGGCCAGGTCCGCCTGCGGGCCCTCTAT
wildtype AA sequence MLQLSQQLDA SEQHKALLKV DLAAFQTRGN QLCSLISGII RASSESSYPT AESQAEAERA
LREMRDLLMN LGQEITRACE DKRRQDEEEA QVKLQEAQMQ QGPEAHKEPP APSQGPGGKQ
NEDLQVKVQD ITMQWYQQLQ DASMQCVLTF EGLTNSKDSQ AKKIKMDLQK AATIPVSQIS
TIAGSKLKEI FDKIHSLLSG KPVQSGGRSV SVTLNPQGLD FVQYKLAEKF VKQGEEEVAS
HHEAAFPIAV VASGIWELHP RVGDLILAHL HKKCPYSVPF YPTFKEGMAL EDYQRMLGYQ
VKDSKVEQQD NFLKRMSGMI RLYAAIIQLR WPYGNRQEIH PHGLNHGWRW LAQILNMEPL
SDVTATLLFD FLEVCGNALM KQYQVQFWKM LILIKEDYFP RIEAITSSGQ MGSFIRLKQF
LEKCLQHKDI PVPKGFLTSS FWRS*
mutated AA sequence N/A
speed 0.81 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