mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999759638194 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
poly(A) signal changed
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:40915190A>GN/A show variant in all transcripts IGV

HGNC symbol

KNL1

Ensembl transcript ID

ENST00000527044

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.3044A>G
g.28973A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs8040502

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1370	794	2164
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.499	0.027
	0.477	0.026
(flanking)	0.326	0.027

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

splice sites

splice site change occurs after stopcodon (at aa 886) splice site change occurs after stopcodon (at aa 889)

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	28974	wt: 0.5179 / mu: 0.5297 (marginal change - not scored)	wt: AACTATTTTATATACATGTAGGCAGGATGACATGGAGATCA mu: AACTATTTTATATACATGTGGGCAGGATGACATGGAGATCA	gtag\|GCAG
Acc marginally increased	28966	wt: 0.7605 / mu: 0.8202 (marginal change - not scored)	wt: ACTTCTGAAACTATTTTATATACATGTAGGCAGGATGACAT mu: ACTTCTGAAACTATTTTATATACATGTGGGCAGGATGACAT	atat\|ACAT
Acc increased	28964	wt: 0.23 / mu: 0.29	wt: GAACTTCTGAAACTATTTTATATACATGTAGGCAGGATGAC mu: GAACTTCTGAAACTATTTTATATACATGTGGGCAGGATGAC	ttat\|ATAC
Acc gained	28972	0.56	mu: GAAACTATTTTATATACATGTGGGCAGGATGACATGGAGAT	atgt\|GGGC

distance from splice site

168

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

unique in [sequence type]: position, polyA signal, score
unique in >wildtype: 30888, AATAAA, 0.203387

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

N/A

position of start ATG in wt / mu cDNA

376 / 376

chromosome

strand

last intron/exon boundary

692

theoretical NMD boundary in CDS

266

length of CDS

342

coding sequence (CDS) position

N/A

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

3044

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

28973

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

40915190

original gDNA sequence snippet

AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC

altered gDNA sequence snippet

AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC

original cDNA sequence snippet

AAACTATTTTATATACATGTAGGCAGGATGACATGGAGATC

altered cDNA sequence snippet

AAACTATTTTATATACATGTGGGCAGGATGACATGGAGATC

wildtype AA sequence

MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEETGENLL LIQNKKLEDN YCEITVFNYR TYP*

mutated AA sequence

N/A

speed

0.63 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