Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.1493146457845e-21 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr16:30936081G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXL19
Ensembl transcript ID ENST00000562319
Genbank transcript ID N/A
UniProt peptide Q6PCT2
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.186G>A
g.1706G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs35675346
databasehomozygous (A/A)heterozygousallele carriers
1000G3859001285
ExAC55342012225656
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2570.923
3.0170.913
(flanking)0.30.496
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -12) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased1703wt: 0.6569 / mu: 0.6685 (marginal change - not scored)wt: GAAAGGGGGAATCTG
mu: GAAAGGGGAAATCTG		 AAGG|ggga
Donor marginally increased1697wt: 0.8802 / mu: 0.9336 (marginal change - not scored)wt: TCCCCGGAAAGGGGG
mu: TCCCCGGAAAGGGGA		 CCCG|gaaa
Donor increased1702wt: 0.75 / mu: 1.00wt: GGAAAGGGGGAATCT
mu: GGAAAGGGGAAATCT		 AAAG|gggg
Donor gained17010.30mu: CGGAAAGGGGAAATC GAAA|gggg
distance from splice site 9
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2225COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
3278ZN_FINGCXXC-type.might get lost (downstream of altered splice site)
3347COMPBIASArg-rich.might get lost (downstream of altered splice site)
85151ZN_FINGPHD-type.might get lost (downstream of altered splice site)
115115MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
186302COMPBIASPro-rich.might get lost (downstream of altered splice site)
324342COMPBIASSer-rich.might get lost (downstream of altered splice site)
375425COMPBIASPro-rich.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
418464DOMAINF-box.might get lost (downstream of altered splice site)
492517REPEATLRR 1.might get lost (downstream of altered splice site)
518541REPEATLRR 2.might get lost (downstream of altered splice site)
581606REPEATLRR 3.might get lost (downstream of altered splice site)
607636REPEATLRR 4.might get lost (downstream of altered splice site)
637661REPEATLRR 5.might get lost (downstream of altered splice site)
662694REPEATLRR 6.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 219 / 219
chromosome 16
strand 1
last intron/exon boundary 2065
theoretical NMD boundary in CDS 1796
length of CDS 2025
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 186
gDNA position
(for ins/del: last normal base / first normal base)		 1706
chromosomal position
(for ins/del: last normal base / first normal base)		 30936081
original gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGGTAAGACTGACT
altered gDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGGTAAGACTGACT
original cDNA sequence snippet TGAAAGTCCCCGGAAAGGGGGAATCTGGGCCCTCGGCGTTG
altered cDNA sequence snippet TGAAAGTCCCCGGAAAGGGGAAATCTGGGCCCTCGGCGTTG
wildtype AA sequence MSSSSRGPGA GARRRRTRCR RCRACVRTEC GDCHFCRDMK KFGGPGRMKQ SCLLRQCTAP
VLPHTAVCLL CGEAGKEDTV EGEEEKFGLS LMECTICNEI VHPGCLKMGK AEGVINAEIP
NCWECPRCTQ EGRTSKDSGE GPGRRRADNG EEGASLGSGW KLTEEPPLPP PPPRRKGPLP
AGPPPEDVPG PPKRKEREAG NEPPTPRKKV KGGRERHLKK VGGDACLLRG SDPGGPGLLP
PRVLNPSQAF SSCHPGLPPE NWEKPKPPLA SAEGPAVPSP SPQREKLERF KRMCQLLERV
PDTSSSSSDS DSDSDSSGTS LSEDEAPGEA RNGRRPARGS SGEKENRGGR RAVRPGSGGP
LLSWPLGPAP PPRPPQLERH VVRPPPRSPE PDTLPLAAGS DHPLPRAAWL RVFQHLGPRE
LCICMRVCRT WSRWCYDKRL WPRMDLSRRK SLTPPMLSGV VRRQPRALDL SWTGVSKKQL
MWLLNRLQGL QELVLSGCSW LSVSALGSAP LPALRLLDLR WIEDVKDSQL RELLLPPPDT
KPGQTESRGR LQGVAELRLA GLELTDASLR LLLRHAPQLS ALDLSHCAHV GDPSVHLLTA
PTSPLRETLV HLNLAGCHRL TDHCLPLFRR CPRLRRLDLR SCRQLSPEAC ARLAAAGPPG
PFRCPEEKLL LKDS*
mutated AA sequence N/A
speed 0.44 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