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

ENST00000361111

Genbank transcript ID

NM_058202

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

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

2815

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

24 / 24

chromosome

strand

-1

last intron/exon boundary

238

theoretical NMD boundary in CDS

164

length of CDS

249

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)

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRQRLLPSVT SLLLVALLFP GSSQARHVNH SATEALGELR ERAPGQGTNG FQLLRHAVKR
DLLPPRTPPY QGTGQQHRQR CG*

mutated AA sequence

N/A

speed

0.82 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