Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999559954642 (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 ENST00000379239
Genbank transcript ID N/A
UniProt peptide Q5T6F2
alteration type single base exchange
alteration region CDS
DNA changes c.1016A>G
cDNA.1554A>G
g.107189A>G
AA changes N339S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 339
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      339ITSCSLTSSSLNSASPVAMSSSYD
mutated  all conserved    339ITSCSLTSSSLSSASPVAMSSSY
Ptroglodytes  all conserved  ENSPTRG00000020871  606ITSCSLTSSSLSSASPVAMSSSY
Mmulatta  all conserved  ENSMMUG00000012597  574ITSCSLTSSSLSSASPVATSSSY
Fcatus  all conserved  ENSFCAG00000009693  606ITSSSLTSSSLSSTSPVTTSSSY
Mmusculus  all conserved  ENSMUSG00000028433  607VTSSTLTSSALSSTSPVTTSSSY
Ggallus  not conserved  ENSGALG00000013809  607ITSSSLTCSS-QSTSPVTTTSSY
Trubripes  not conserved  ENSTRUG00000015263  621VAPASSNSSSVPSSSHFSTVGGSY
Drerio  all conserved  ENSDARG00000088318  628TAPSSSSSSSSSSAASSAGNSF
Dmelanogaster  not conserved  FBgn0020279  854QYANFSASAKLK
Celegans  no alignment  R119.4  n/a
Xtropicalis  not conserved  ENSXETG00000002157  601IATSSLSSSS-QSTSPVTATSSSSSSY
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 2559 / 2559
position (AA) of stopcodon in wt / mu AA sequence 853 / 853
position of stopcodon in wt / mu cDNA 3097 / 3097
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 539 / 539
chromosome 9
strand -1
last intron/exon boundary 3002
theoretical NMD boundary in CDS 2413
length of CDS 2559
coding sequence (CDS) position 1016
cDNA position
(for ins/del: last normal base / first normal base)		 1554
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 MDSKGLGRIL WKSGQQKTGL KIIDLVALLQ KPVPHSQASE ANSFETSQQQ GFGQALVFTN
SQHNNQMAPG TGSSTAVNSC SPQSLSSVLG SGFGELAPPK 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 GGRSQQTLDT PKTTGPPSAL PSVSSLPSTT SCTALLPSTS
QHTGDLTSSP LSQLSSSLSS HQSSLSAHAA LSSSTSHTHA SVESASSHQS SATFSTAATS
VSSSASSGAS LSSSMNTANS LCLGGTPASA SSSSSRAAPL VTSGKAPPNL PQGVPPLLHN
QYLVGPGGLL PAYPIYGYDE LQMLQSRLPV DYYGIPFAAP TALASRDGSL ANNPYPGDVT
KFGRGDSASP APATTPAQPQ QSQSQTHHTA QQPFVNPALP PGYSYTGLPY YTGMPSAFQY
GPTMFVPPAS AKQHGVNLST PTPPFQQASG YGQHGYSTGY DDLTQGTAAG DYSKGGYAGS
SQAPNKSAGS GPGKGVSVSS STTGLPDMTG SVYNKTQTFD KQGFHAGTPP PFSLPSVLGS
TGPLASGAAP GYAPPPFLHI LPAHQQPHSQ LLHHHLPQDA QSGSGQRSQP SSLQPKSQAS
KPAYGNSPYW TN*
mutated AA sequence MDSKGLGRIL WKSGQQKTGL KIIDLVALLQ KPVPHSQASE ANSFETSQQQ GFGQALVFTN
SQHNNQMAPG TGSSTAVNSC SPQSLSSVLG SGFGELAPPK 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 GGRSQQTLDT PKTTGPPSAL PSVSSLPSTT SCTALLPSTS
QHTGDLTSSP LSQLSSSLSS HQSSLSAHAA LSSSTSHTHA SVESASSHQS SATFSTAATS
VSSSASSGAS LSSSMNTANS LCLGGTPASA SSSSSRAAPL VTSGKAPPNL PQGVPPLLHN
QYLVGPGGLL PAYPIYGYDE LQMLQSRLPV DYYGIPFAAP TALASRDGSL ANNPYPGDVT
KFGRGDSASP APATTPAQPQ QSQSQTHHTA QQPFVNPALP PGYSYTGLPY YTGMPSAFQY
GPTMFVPPAS AKQHGVNLST PTPPFQQASG YGQHGYSTGY DDLTQGTAAG DYSKGGYAGS
SQAPNKSAGS GPGKGVSVSS STTGLPDMTG SVYNKTQTFD KQGFHAGTPP PFSLPSVLGS
TGPLASGAAP GYAPPPFLHI LPAHQQPHSQ LLHHHLPQDA QSGSGQRSQP SSLQPKSQAS
KPAYGNSPYW TN*
speed 0.76 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