mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999896712064 (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)

chr8:143425720T>CN/A show variant in all transcripts IGV

HGNC symbol

TSNARE1

Ensembl transcript ID

ENST00000519651

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.58882A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs10100935

database	homozygous (C/C)	heterozygous	allele carriers
1000G	947	1041	1988
ExAC	7510	17747	25257

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.363	0.001
	0.241	0.001
(flanking)	-3.309	0

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	58888	wt: 0.2542 / mu: 0.2977 (marginal change - not scored)	wt: TGGCGGGGCCCAGCACTACCCGGGCCAAGAAGAGGAAGCCC mu: TGGCGGGGCCCAGCGCTACCCGGGCCAAGAAGAGGAAGCCC	accc\|GGGC

distance from splice site

10278

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

105 / 105

chromosome

strand

-1

last intron/exon boundary

894

theoretical NMD boundary in CDS

739

length of CDS

834

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)

58882

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

143425720

original gDNA sequence snippet

GCCGGATGGCGGGGCCCAGCACTACCCGGGCCAAGAAGAGG

altered gDNA sequence snippet

GCCGGATGGCGGGGCCCAGCGCTACCCGGGCCAAGAAGAGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSYGSIARGG GLGSRGPFGG PSRQGCQPLA TQVDPCNLQE LFQEMSANVF RINSSVTSLE
RSLQSLGTPS DTQELRDSLH TAQQETNKTI AASASSVKQM AELLRSSCPE RLQQERPQLD
RLKTQLSDAI QCYGVVQKKI AEKSRALLPM AQRGSKQQSP QAPFAELADD EKVFNGSDNM
WQGQEQALLP DITEEDLEAI RLREEAILQM ESNLLDVNQI IKDLASMVSE QGEAVDSIEA
SLEAASSHAE AARQLLAGAS RHQLMRRTRP PAACGCP*

mutated AA sequence

N/A

speed

0.59 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