Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.02387430987587e-08 (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) chr3:122354792G>AN/A show variant in all transcripts   IGV
HGNC symbol PARP15
Ensembl transcript ID ENST00000464300
Genbank transcript ID NM_001113523
UniProt peptide Q460N3
alteration type single base exchange
alteration region CDS
DNA changes c.1882G>A
cDNA.1948G>A
g.58344G>A
AA changes G628R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 628
frameshift no
known variant Reference ID: rs12489170
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC25331682919362
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.770
5.0580.992
(flanking)5.0580.992
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased58341wt: 0.41 / mu: 0.52wt: TACTTACTGGAGTCTTCACAAAGGGACGTGCAGGATTAGTC
mu: TACTTACTGGAGTCTTCACAAAGAGACGTGCAGGATTAGTC		 acaa|AGGG
Donor increased58337wt: 0.55 / mu: 0.67wt: GTCTTCACAAAGGGA
mu: GTCTTCACAAAGAGA		 CTTC|acaa
Donor marginally increased58342wt: 0.9988 / mu: 0.9990 (marginal change - not scored)wt: CACAAAGGGACGTGC
mu: CACAAAGAGACGTGC		 CAAA|ggga
Donor increased58344wt: 0.79 / mu: 0.99wt: CAAAGGGACGTGCAG
mu: CAAAGAGACGTGCAG		 AAGG|gacg
Donor increased58347wt: 0.52 / mu: 0.73wt: AGGGACGTGCAGGAT
mu: AGAGACGTGCAGGAT		 GGAC|gtgc
Donor gained583390.85mu: CTTCACAAAGAGACG TCAC|aaag
distance from splice site 135
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      628VVRVLTGVFTKGRAGLVTPPPKNP
mutated  not conserved    628VVRVLTGVFTKRRAGLVTPPPKN
Ptroglodytes  all identical  ENSPTRG00000015296  628VVRVLTGVFTKGRAGLVTPPPKN
Mmulatta  all identical  ENSMMUG00000020547  572VVRVLTGVFTKGHAGLVTPPPKN
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  all identical  ENSGALG00000012072  1586LARVLVGQYSQGTQGAITPAAKN
Trubripes  all identical  ENSTRUG00000010891  349LAKVLVGDFTRGQAGLPAPPEK-
Drerio  all identical  ENSDARG00000074139  1760LAKVLVGDFTRGNSGLLVPPAKS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023399  1760LARVLTGTFTTGQTNMITPPPKN
protein features
start (aa)end (aa)featuredetails 
460656DOMAINPARP catalytic.lost
626630STRANDlost
632634STRANDmight get lost (downstream of altered splice site)
636640STRANDmight get lost (downstream of altered splice site)
645655STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2037 / 2037
position (AA) of stopcodon in wt / mu AA sequence 679 / 679
position of stopcodon in wt / mu cDNA 2103 / 2103
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 67 / 67
chromosome 3
strand 1
last intron/exon boundary 1814
theoretical NMD boundary in CDS 1697
length of CDS 2037
coding sequence (CDS) position 1882
cDNA position
(for ins/del: last normal base / first normal base)		 1948
gDNA position
(for ins/del: last normal base / first normal base)		 58344
chromosomal position
(for ins/del: last normal base / first normal base)		 122354792
original gDNA sequence snippet TTACTGGAGTCTTCACAAAGGGACGTGCAGGATTAGTCACC
altered gDNA sequence snippet TTACTGGAGTCTTCACAAAGAGACGTGCAGGATTAGTCACC
original cDNA sequence snippet TTACTGGAGTCTTCACAAAGGGACGTGCAGGATTAGTCACC
altered cDNA sequence snippet TTACTGGAGTCTTCACAAAGAGACGTGCAGGATTAGTCACC
wildtype AA sequence MAAPGPLPAA ALSPGAPTPR ELMHGVAGVT SRAGRDREAG SVLPAGNRGA RKASRRSSSR
SMSRDNKFSK KDCLSIRNVV ASIQTKEGLN LKLISGDVLY IWADVIVNSV PMNLQLGGGP
LSRAFLQKAG PMLQKELDDR RRETEEKVGN IFMTSGCNLD CKAVLHAVAP YWNNGAETSW
QIMANIIKKC LTTVEVLSFS SITFPMIGTG SLQFPKAVFA KLILSEVFEY SSSTRPITSP
LQEVHFLVYT NDDEGCQAFL DEFTNWSRIN PNKARIPMAG DTQGVVGTVS KPCFTAYEMK
IGAITFQVAT GDIATEQVDV IVNSTARTFN RKSGVSRAIL EGAGQAVESE CAVLAAQPHR
DFIITPGGCL KCKIIIHVPG GKDVRKTVTS VLEECEQRKY TSVSLPAIGT GNAGKNPITV
ADNIIDAIVD FSSQHSTPSL KTVKVVIFQP ELLNIFYDSM KKRDLSASLN FQSTFSMTTC
NLPEHWTDMN HQLFCMVQLE PGQSEYNTIK DKFTRTCSSY AIEKIERIQN AFLWQSYQVK
KRQMDIKNDH KNNERLLFHG TDADSVPYVN QHGFNRSCAG KNAVSYGKGT YFAVDASYSA
KDTYSKPDSN GRKHMYVVRV LTGVFTKGRA GLVTPPPKNP HNPTDLFDSV TNNTRSPKLF
VVFFDNQAYP EYLITFTA*
mutated AA sequence MAAPGPLPAA ALSPGAPTPR ELMHGVAGVT SRAGRDREAG SVLPAGNRGA RKASRRSSSR
SMSRDNKFSK KDCLSIRNVV ASIQTKEGLN LKLISGDVLY IWADVIVNSV PMNLQLGGGP
LSRAFLQKAG PMLQKELDDR RRETEEKVGN IFMTSGCNLD CKAVLHAVAP YWNNGAETSW
QIMANIIKKC LTTVEVLSFS SITFPMIGTG SLQFPKAVFA KLILSEVFEY SSSTRPITSP
LQEVHFLVYT NDDEGCQAFL DEFTNWSRIN PNKARIPMAG DTQGVVGTVS KPCFTAYEMK
IGAITFQVAT GDIATEQVDV IVNSTARTFN RKSGVSRAIL EGAGQAVESE CAVLAAQPHR
DFIITPGGCL KCKIIIHVPG GKDVRKTVTS VLEECEQRKY TSVSLPAIGT GNAGKNPITV
ADNIIDAIVD FSSQHSTPSL KTVKVVIFQP ELLNIFYDSM KKRDLSASLN FQSTFSMTTC
NLPEHWTDMN HQLFCMVQLE PGQSEYNTIK DKFTRTCSSY AIEKIERIQN AFLWQSYQVK
KRQMDIKNDH KNNERLLFHG TDADSVPYVN QHGFNRSCAG KNAVSYGKGT YFAVDASYSA
KDTYSKPDSN GRKHMYVVRV LTGVFTKRRA GLVTPPPKNP HNPTDLFDSV TNNTRSPKLF
VVFFDNQAYP EYLITFTA*
speed 1.13 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