mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.997115219693743 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:124767067T>CN/A show variant in all transcripts IGV

HGNC symbol

ROBO4

Ensembl transcript ID

ENST00000533054

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.1330A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs59648931

database	homozygous (C/C)	heterozygous	allele carriers
1000G	448	1030	1478
ExAC	4496	19095	23591

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.581	0.165
	-0.052	0.172
(flanking)	0.496	0.518

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

splice sites

no abrogation of potential splice sites

distance from splice site

116

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

303 / 303

chromosome

strand

-1

last intron/exon boundary

2869

theoretical NMD boundary in CDS

2516

length of CDS

2589

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)

1330

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

124767067

original gDNA sequence snippet

CCCTGCCAGGATGAGCTGCCAAGCCTCAGGCCAGCCACCTC

altered gDNA sequence snippet

CCCTGCCAGGATGAGCTGCCGAGCCTCAGGCCAGCCACCTC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVAVVGEQFT LECGPPWGHP EPTVSWWKDG KPLALQPGRH TVSGGSLLMA RAEKSDEGTY
MCVATNSAGH RESRAARVSI QEPQDYTEPV ELLAVRIQLE NVTLLNPDPA EGPKPRPAVW
LSWKVSGPAA PAQSYTALFR TQTAPGGQGA PWAEELLAGW QSAELGGLHW GQDYEFKVRP
SSGRARGPDS NVLLLRLPEK VPSAPPQEVT LKPGNGTVFV SWVPPPAENH NGIIRGYQVW
SLGNTSLPPA NWTVVGEQTQ LEIATHMPGS YCVQVAAVTG AGAGEPSRPV CLLLEQAMER
ATQEPSEHGP WTLEQLRATL KRPEVIATCG VALWLLLLGT AVCIHRRRRA RVHLGPGLYR
YTSEDAILKH RMDHSDSQWL ADTWRSTSGS RDLSSSSSLS SRLGADARDP LDCRRSLLSW
DSRSPGVPLL PDTSTFYGSL IAELPSSTPA RPSPQVPAVR RLPPQLAQLS SPCSSSDSLC
SRRGLSSPRL SLAPAEAWKA KKKQELQHAN SSPLLRGSHS LELRACELGN RGSKNLSQSP
GAVPQALVAW RALGPKLLSS SNELVTRHLP PAPLFPHETP PTQSQQTQPP VAPQAPSSIL
LPAAPIPILS PCSPPSPQAS SLSGPSPASS RLSSSSLSSL GEDQDSVLTP EEVALCLELS
EGEETPRNSV SPMPRAPSPP TTYGYISVPT ASEFTDMGRT GGGVGPKGGV LLCPPRPCLT
PTPSEGSLAN GWGSASEDNA ASARASLVSS SDGSFLADAH FARALAVAVD SFGFGLEPRE
ADCVFIDASS PPSPRDEIFL TPNLSLPLWE WRPDWLEDME VSHTQRLGRG MPPWPPDSQI
SSQRSQLHCR MPKAGASPVD YS*

mutated AA sequence

N/A

speed

0.12 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