mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.99999985147049 (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)

chr8:7308386T>CN/A show variant in all transcripts IGV

HGNC symbol

SPAG11B

Ensembl transcript ID

ENST00000297498

Genbank transcript ID

NM_016512

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.494A>G
g.12811A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1042797

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	14826	3115	17941

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.734	0.005
	-0.293	0.01
(flanking)	-0.134	0.086

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	12816	wt: 0.2915 / mu: 0.2977 (marginal change - not scored)	wt: GAAATACCATCTGCCATATGCAGCAAGGGATCTGCAGACTT mu: GAAATACCATCTGCCGTATGCAGCAAGGGATCTGCAGACTT	atgc\|AGCA

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

168 / 168

chromosome

strand

-1

last intron/exon boundary

458

theoretical NMD boundary in CDS

240

length of CDS

312

coding sequence (CDS) position

N/A

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

494

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

12811

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

7308386

original gDNA sequence snippet

AATTAGAAATACCATCTGCCATATGCAGCAAGGGATCTGCA

altered gDNA sequence snippet

AATTAGAAATACCATCTGCCGTATGCAGCAAGGGATCTGCA

original cDNA sequence snippet

AATTAGAAATACCATCTGCCATATGCAGCAAGGGATCTGCA

altered cDNA sequence snippet

AATTAGAAATACCATCTGCCGTATGCAGCAAGGGATCTGCA

wildtype AA sequence

MRQRLLPSVT SLLLVALLFP GSSQARHVNH SATEALGELR ERAPGQGTNG FQLLRHAVKR
DLLPPRTPPY QVHISHREAR GPSFRICVDF LGPRWARGCS TGN*

mutated AA sequence

N/A

speed

0.08 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