mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.49015945426078e-08 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:42627434G>AN/A show variant in all transcripts IGV

HGNC symbol

UBR2

Ensembl transcript ID

ENST00000372883

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.2258G>A
g.95635G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6917033

database	homozygous (A/A)	heterozygous	allele carriers
1000G	476	1211	1687
ExAC	9766	13235	23001

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.89	0.737
	0.742	0.888
(flanking)	2.029	0.995

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

splice sites

splice site change occurs after stopcodon (at aa 602)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	95637	wt: 0.22 / mu: 0.30	wt: CCCGCACAAACTCAG mu: CCCACACAAACTCAG	CGCA\|caaa
Donor increased	95636	wt: 0.56 / mu: 0.69	wt: CCCCGCACAAACTCA mu: CCCCACACAAACTCA	CCGC\|acaa
Donor gained	95635	0.89	mu: GCCCCACACAAACTC	CCCA\|caca

distance from splice site

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

453 / 453

chromosome

strand

last intron/exon boundary

3966

theoretical NMD boundary in CDS

3463

length of CDS

1728

coding sequence (CDS) position

N/A

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

2258

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

95635

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

42627434

original gDNA sequence snippet

CACTTACAGCACTGGGCCCCGCACAAACTCAGGTTCCTGAA

altered gDNA sequence snippet

CACTTACAGCACTGGGCCCCACACAAACTCAGGTTCCTGAA

original cDNA sequence snippet

CACTTACAGCACTGGGCCCCGCACAAACTCAGGTTCCTGAA

altered cDNA sequence snippet

CACTTACAGCACTGGGCCCCACACAAACTCAGGTTCCTGAA

wildtype AA sequence

MYAGNIPIYK TESRSRNEQG MDPITRQVGQ HIEMEPEWEA AFTLQMKLTH VISMMQDWCA
SDEKVLIEAY KKCLAVLMQC HGGYTDGEQP ITLSICGHSV ETIRYCVSQE KVSIHLPVSR
LLAGLHVLLS KSEVAYKFPE LLPLSELSPP MLIEHPLRCL VLCAQVHAGM WRRNGFSLVN
QIYYYHNVKC RREMFDKDVV MLQTGVSMMD PNHFLMIMLS RFELYQIFST PDYGKRFSSE
ITHKDVVQQN NTLIEEMLYL IIMLVGERFS PGVGQVNATD EIKREIIHQL SIKPMAHSEL
VKSLPEDENK ETGMESVIEA VAHFKKPGLT GRGMYELKPE CAKEFNLYFY HFSRAEQSKA
EEAQRKLKRQ NREDTALPPP VLPPFCPLFA SLVNILQSDV MLCIMGTILQ WAVEHNGYAW
SESMLQRVLH LIGMALQEEK QHLENVTEEH VVTFTFTQKI SKPGEAPKNS PSILAMLETL
QNAPYLEVHK DMIRWILKTF NAVKKMRESS PTSPVAETEG TIMEEHNFRV QGTKTKLRGR
EKQRLPDCAE KRSWLRCLKC SGILLMKTKN SFSRH*

mutated AA sequence

N/A

speed

0.77 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