mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 5.74895352831988e-07 (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)

chr18:691266A>GN/A show variant in all transcripts IGV

HGNC symbol

ENOSF1

Ensembl transcript ID

ENST00000539164

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.863T>C
g.21411T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2612086

database	homozygous (G/G)	heterozygous	allele carriers
1000G	179	922	1101
ExAC	6474	19819	26293

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.97
	0.145	0.953
(flanking)	0.872	0.958

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

splice sites

no abrogation of potential splice sites

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

24 / 24

chromosome

strand

-1

last intron/exon boundary

853

theoretical NMD boundary in CDS

779

length of CDS

429

coding sequence (CDS) position

N/A

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

863

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

21411

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

691266

original gDNA sequence snippet

ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered gDNA sequence snippet

ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT

original cDNA sequence snippet

TAGATTCAAGGATCCCAGGATGCTGGTATCCTGCATAGATT

altered cDNA sequence snippet

TAGATTCAAGGATCCCAGGACGCTGGTATCCTGCATAGATT

wildtype AA sequence

MVRGRISRLS VRDVRFPTSL GGHGADAMHT DPDYSAAYVV IETDAEDGIK GCGITFTLGK
GTEVVVCAVN ALAHHVLNKD LKDIVGDFRG FYRQLTSDGQ LRWIGPEKGV VHLATAAVLN
AVWDLWAKQE GKPVWKLLVD MG*

mutated AA sequence

N/A

speed

1.28 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