Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 4.63721031404863e-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 ENST00000310366
Genbank transcript ID NM_152615
UniProt peptide Q460N3
alteration type single base exchange
alteration region CDS
DNA changes c.1180G>A
cDNA.1275G>A
g.58344G>A
AA changes G394R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 394
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      394VVRVLTGVFTKGRAGLVTPPPKNP
mutated  not conserved    394VVRVLTGVFTKRRAGLVTPPPKN
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  1759LAKVLVGDFTRGNSGLLVPPAKS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023399  1760LARVLTGTFTTGQTNMITPPPKN
protein features
start (aa)end (aa)featuredetails 
271442DOMAINMacro 2.lost
395412HELIXmight get lost (downstream of altered splice site)
420427STRANDmight get lost (downstream of altered splice site)
429439HELIXmight get lost (downstream of altered splice site)
460656DOMAINPARP catalytic.might get lost (downstream of altered splice site)
471476STRANDmight get lost (downstream of altered splice site)
482495HELIXmight get lost (downstream of altered splice site)
498508STRANDmight get lost (downstream of altered splice site)
509525HELIXmight get lost (downstream of altered splice site)
526528STRANDmight get lost (downstream of altered splice site)
532539STRANDmight get lost (downstream of altered splice site)
541543HELIXmight get lost (downstream of altered splice site)
544550HELIXmight get lost (downstream of altered splice site)
554556TURNmight get lost (downstream of altered splice site)
566573STRANDmight get lost (downstream of altered splice site)
574578HELIXmight get lost (downstream of altered splice site)
580582TURNmight get lost (downstream of altered splice site)
591599STRANDmight get lost (downstream of altered splice site)
602605STRANDmight get lost (downstream of altered splice site)
615617STRANDmight get lost (downstream of altered splice site)
620624STRANDmight get lost (downstream of altered splice site)
626630STRANDmight get lost (downstream of altered splice site)
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 1335 / 1335
position (AA) of stopcodon in wt / mu AA sequence 445 / 445
position of stopcodon in wt / mu cDNA 1430 / 1430
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 96 / 96
chromosome 3
strand 1
last intron/exon boundary 1141
theoretical NMD boundary in CDS 995
length of CDS 1335
coding sequence (CDS) position 1180
cDNA position
(for ins/del: last normal base / first normal base)		 1275
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 MLQRIGLIFL HNIVVVSNCF YFQAFLDEFT NWSRINPNKA RIPMAGDTQG VVGTVSKPCF
TAYEMKIGAI TFQVATGDIA TEQVDVIVNS TARTFNRKSG VSRAILEGAG QAVESECAVL
AAQPHRDFII TPGGCLKCKI IIHVPGGKDV RKTVTSVLEE CEQRKYTSVS LPAIGTGNAG
KNPITVADNI IDAIVDFSSQ HSTPSLKTVK VVIFQPELLN IFYDSMKKRD LSASLNFQST
FSMTTCNLPE HWTDMNHQLF CMVQLEPGQS EYNTIKDKFT RTCSSYAIEK IERIQNAFLW
QSYQVKKRQM DIKNDHKNNE RLLFHGTDAD SVPYVNQHGF NRSCAGKNAV SYGKGTYFAV
DASYSAKDTY SKPDSNGRKH MYVVRVLTGV FTKGRAGLVT PPPKNPHNPT DLFDSVTNNT
RSPKLFVVFF DNQAYPEYLI TFTA*
mutated AA sequence MLQRIGLIFL HNIVVVSNCF YFQAFLDEFT NWSRINPNKA RIPMAGDTQG VVGTVSKPCF
TAYEMKIGAI TFQVATGDIA TEQVDVIVNS TARTFNRKSG VSRAILEGAG QAVESECAVL
AAQPHRDFII TPGGCLKCKI IIHVPGGKDV RKTVTSVLEE CEQRKYTSVS LPAIGTGNAG
KNPITVADNI IDAIVDFSSQ HSTPSLKTVK VVIFQPELLN IFYDSMKKRD LSASLNFQST
FSMTTCNLPE HWTDMNHQLF CMVQLEPGQS EYNTIKDKFT RTCSSYAIEK IERIQNAFLW
QSYQVKKRQM DIKNDHKNNE RLLFHGTDAD SVPYVNQHGF NRSCAGKNAV SYGKGTYFAV
DASYSAKDTY SKPDSNGRKH MYVVRVLTGV FTKRRAGLVT PPPKNPHNPT DLFDSVTNNT
RSPKLFVVFF DNQAYPEYLI TFTA*
speed 1.02 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