mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 3.66034110004855e-20 (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

ENST00000471231

Genbank transcript ID

N/A

UniProt peptide

Q6PCT2

alteration type

single base exchange

alteration region

intron

DNA changes

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

database	homozygous (A/A)	heterozygous	allele carriers
1000G	385	900	1285
ExAC	5534	20122	25656

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

	PhyloP	PhastCons
(flanking)	0.257	0.923
	3.017	0.913
(flanking)	0.3	0.496

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change before start ATG (at aa -287) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	1703	wt: 0.6569 / mu: 0.6685 (marginal change - not scored)	wt: GAAAGGGGGAATCTG mu: GAAAGGGGAAATCTG	AAGG\|ggga
Donor marginally increased	1697	wt: 0.8802 / mu: 0.9336 (marginal change - not scored)	wt: TCCCCGGAAAGGGGG mu: TCCCCGGAAAGGGGA	CCCG\|gaaa
Donor increased	1702	wt: 0.75 / mu: 1.00	wt: GGAAAGGGGGAATCT mu: GGAAAGGGGAAATCT	AAAG\|gggg
Donor gained	1701	0.30	mu: CGGAAAGGGGAAATC	GAAA\|gggg

distance from splice site

1009

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
22	25	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
32	78	ZN_FING	CXXC-type.	might get lost (downstream of altered splice site)
33	47	COMPBIAS	Arg-rich.	might get lost (downstream of altered splice site)
85	151	ZN_FING	PHD-type.	might get lost (downstream of altered splice site)
115	115	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
186	302	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
324	342	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)
375	425	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
408	408	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
418	464	DOMAIN	F-box.	might get lost (downstream of altered splice site)
492	517	REPEAT	LRR 1.	might get lost (downstream of altered splice site)
518	541	REPEAT	LRR 2.	might get lost (downstream of altered splice site)
581	606	REPEAT	LRR 3.	might get lost (downstream of altered splice site)
607	636	REPEAT	LRR 4.	might get lost (downstream of altered splice site)
637	661	REPEAT	LRR 5.	might get lost (downstream of altered splice site)
662	694	REPEAT	LRR 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

947 / 947

chromosome

strand

last intron/exon boundary

1917

theoretical NMD boundary in CDS

920

length of CDS

1149

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MCQLLERVPD TSSSSSDSDS DSDSSGTSLS EDEAPGEARN GRRPARGSSG EKENRGGRRA
VRPGSGGPLL SWPLGPAPPP RPPQLERHVV RPPPRSPEPD TLPLAAGSDH PLPRAAWLRV
FQHLGPRELC ICMRVCRTWS RWCYDKRLWP RMDLSRRKSL TPPMLSGVVR RQPRALDLSW
TGVSKKQLMW LLNRLQGLQE LVLSGCSWLS VSALGSAPLP ALRLLDLRWI EDVKDSQLRE
LLLPPPDTKP GQTESRGRLQ GVAELRLAGL ELTDASLRLL LRHAPQLSAL DLSHCAHVGD
PSVHLLTAPT SPLRETLVHL NLAGCHRLTD HCLPLFRRCP RLRRLDLRSC RQLSPEACAR
LAAAGPPGPF RCPEEKLLLK DS*

mutated AA sequence

N/A

speed

0.59 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