Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999871228830797 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:96239805G>AN/A show variant in all transcripts   IGV
HGNC symbol DZIP1
Ensembl transcript ID ENST00000361396
Genbank transcript ID N/A
UniProt peptide Q86YF9
alteration type single base exchange
alteration region CDS
DNA changes c.2149C>T
cDNA.2988C>T
g.57153C>T
AA changes P717S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 717
frameshift no
known variant Reference ID: rs11070136
databasehomozygous (A/A)heterozygousallele carriers
1000G1919641155
ExAC58182113126949
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2970.874
0.3780.836
(flanking)0.420.818
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased57157wt: 0.6438 / mu: 0.7059 (marginal change - not scored)wt: GGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTGTTAC
mu: GGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTGTTAC		 ccaa|GCCC
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      717EGSEIEDTDDSPKPAGVAVKTPTE
mutated  not conserved    717EGSEIEDTDDSSKPA
Ptroglodytes  all identical  ENSPTRG00000005974  735EGSEIEDTDDSPKPAGVAVKTPT
Mmulatta  all identical  ENSMMUG00000005839  735EGSEIEDTDDSPKPTGATIKTPT
Fcatus  not conserved  ENSFCAG00000002928  736XXXXXXXXXXXXXXX
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000016895  682EESETEETGTPVKTSKGTVIQKLT
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000000943  756KHTDQNGNLKNVTHSNVKALG
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031622  458EGSFLEELHPQWVSKPNATMVK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2547 / 2547
position (AA) of stopcodon in wt / mu AA sequence 849 / 849
position of stopcodon in wt / mu cDNA 3386 / 3386
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 840 / 840
chromosome 13
strand -1
last intron/exon boundary 3307
theoretical NMD boundary in CDS 2417
length of CDS 2547
coding sequence (CDS) position 2149
cDNA position
(for ins/del: last normal base / first normal base)		 2988
gDNA position
(for ins/del: last normal base / first normal base)		 57153
chromosomal position
(for ins/del: last normal base / first normal base)		 96239805
original gDNA sequence snippet TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTG
altered gDNA sequence snippet TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTG
original cDNA sequence snippet TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGAGTCGCC
altered cDNA sequence snippet TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGAGTCGCC
wildtype AA sequence MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKVNAPAL HTLETKSSLP MVHEQAFSSH
ILEPIEELSE EEKGRENEQK LNNNKMHLRK ALKSNSSLTK GLRTMVEQNL MEKLETLGIN
ADIRGISSDQ LHRVLKSVES ERHKQEREIP NFHQIREFLE HQVSCKIEEK ALLSSDQCSV
SQMDTLSTGE VPKMIQLPSK NRQLIRQKAV STDRTSVPKI KKNVMEDPFP RKSSTITTPP
FSSEEEQEDD DLIRAYASPG PLPVPPPQNK GSFGKNTVKS DADGTEGSEI EDTDDSPKPA
GVAVKTPTEK VEKMFPHRKN VNKPVGGTNV PEMFIKKEEL QELKCADVED EDWDISSLEE
EISLGKKSGK EQKEPPPAKN EPHFAHVLNA WGAFNPKGPK GEGLQENESS TLKSSLVTVT
DWSDTSDV*
mutated AA sequence MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKVNAPAL HTLETKSSLP MVHEQAFSSH
ILEPIEELSE EEKGRENEQK LNNNKMHLRK ALKSNSSLTK GLRTMVEQNL MEKLETLGIN
ADIRGISSDQ LHRVLKSVES ERHKQEREIP NFHQIREFLE HQVSCKIEEK ALLSSDQCSV
SQMDTLSTGE VPKMIQLPSK NRQLIRQKAV STDRTSVPKI KKNVMEDPFP RKSSTITTPP
FSSEEEQEDD DLIRAYASPG PLPVPPPQNK GSFGKNTVKS DADGTEGSEI EDTDDSSKPA
GVAVKTPTEK VEKMFPHRKN VNKPVGGTNV PEMFIKKEEL QELKCADVED EDWDISSLEE
EISLGKKSGK EQKEPPPAKN EPHFAHVLNA WGAFNPKGPK GEGLQENESS TLKSSLVTVT
DWSDTSDV*
speed 0.83 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