Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999007452885 (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) chr9:33941759T>CN/A show variant in all transcripts   IGV
HGNC symbol UBAP2
Ensembl transcript ID ENST00000379225
Genbank transcript ID N/A
UniProt peptide Q5T6F2
alteration type single base exchange
alteration region CDS
DNA changes c.716A>G
cDNA.1140A>G
g.107189A>G
AA changes N239S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 239
frameshift no
known variant Reference ID: rs307658
databasehomozygous (C/C)heterozygousallele carriers
1000G38710831470
ExAC89801480723787
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8691
2.0021
(flanking)3.7651
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased107197wt: 0.61 / mu: 0.68wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC
mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC		 gcta|GTCC
Donor gained1071830.74mu: CTCATCACTGAGTTC CATC|actg
distance from splice site 102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      239ITSCSLTSSSLNSASPVAMSSSYD
mutated  all conserved    239ITSCSLTSSSLSSASPVAMSSSY
Ptroglodytes  all conserved  ENSPTRG00000020871  606ITSCSLTSSSLSSASPVAMSSSY
Mmulatta  all conserved  ENSMMUG00000012597  574ITSCSLTSSSLSSASPVATSSSY
Fcatus  all conserved  ENSFCAG00000009693  606ITSSSLTSSSLSSTSPVTTSSSY
Mmusculus  all conserved  ENSMUSG00000028433  607SSTSPVTTSSSY
Ggallus  not conserved  ENSGALG00000013809  606ITSSSLTCSS-QSTSPVTTTSSY
Trubripes  not conserved  ENSTRUG00000015263  623PASSNSSSVPSSSHFSTVGGSY
Drerio  all conserved  ENSDARG00000088318  611ATAPSSSSSSSSSSAASSA
Dmelanogaster  all identical  FBgn0020279  676------ISDALNAA
Celegans  not conserved  R119.4  446TSPPLSYGQSNRGLSYDTSSASY
Xtropicalis  not conserved  ENSXETG00000002157  601IATSSLSSSS-QSTSPVTATSSS
protein features
start (aa)end (aa)featuredetails 
432432MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
439439MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
473473MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
633633MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
839839MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
862862MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 978 / 978
position (AA) of stopcodon in wt / mu AA sequence 326 / 326
position of stopcodon in wt / mu cDNA 1402 / 1402
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 425 / 425
chromosome 9
strand -1
last intron/exon boundary 1253
theoretical NMD boundary in CDS 778
length of CDS 978
coding sequence (CDS) position 716
cDNA position
(for ins/del: last normal base / first normal base)		 1140
gDNA position
(for ins/del: last normal base / first normal base)		 107189
chromosomal position
(for ins/del: last normal base / first normal base)		 33941759
original gDNA sequence snippet TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA
altered gDNA sequence snippet TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA
original cDNA sequence snippet TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA
altered cDNA sequence snippet TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA
wildtype AA sequence MANITSSQIL DQLKAPSLGQ FTTTPSTQQN STSHPTTTTS WDLKPPTSQS SVLSHLDFKS
QPEPSPVLSQ LSQRQQHQSQ AVTVPPPGLE SFPSQAKLRE STPGDSPSTV NKLLQLPSTT
IENISVSVHQ PQPKHIKLAK RRIPPASKIP ASAVEMPGSA DVTGLNVQFG ALEFGSEPSL
SEFGSAPSSE NSNQIPISLY SKSLSEPLNT SLSMTSAVQN STYTTSVITS CSLTSSSLNS
ASPVAMSSSY DQSSVHNRIP YQSPVSSSES APGTIMNGHG GGRSQQTLDS KYSSKLLLSW
LVPTKQRKRI AHVMWKTPVG QWLIR*
mutated AA sequence MANITSSQIL DQLKAPSLGQ FTTTPSTQQN STSHPTTTTS WDLKPPTSQS SVLSHLDFKS
QPEPSPVLSQ LSQRQQHQSQ AVTVPPPGLE SFPSQAKLRE STPGDSPSTV NKLLQLPSTT
IENISVSVHQ PQPKHIKLAK RRIPPASKIP ASAVEMPGSA DVTGLNVQFG ALEFGSEPSL
SEFGSAPSSE NSNQIPISLY SKSLSEPLNT SLSMTSAVQN STYTTSVITS CSLTSSSLSS
ASPVAMSSSY DQSSVHNRIP YQSPVSSSES APGTIMNGHG GGRSQQTLDS KYSSKLLLSW
LVPTKQRKRI AHVMWKTPVG QWLIR*
speed 0.93 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