mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 3.30026650189241e-05 (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)

chr19:38056763C>GN/A show variant in all transcripts IGV

HGNC symbol

ZNF571

Ensembl transcript ID

ENST00000590751

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.28911G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs8111790

database	homozygous (G/G)	heterozygous	allele carriers
1000G	119	663	782
ExAC	5751	21265	27016

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.433	0.004
	-1.753	0.003
(flanking)	3.685	0.924

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
Donor marginally increased	28914	wt: 0.9612 / mu: 0.9651 (marginal change - not scored)	wt: CAGACTGGTGAGAAA mu: CACACTGGTGAGAAA	GACT\|ggtg

distance from splice site

9700

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

185 / 185

chromosome

strand

-1

last intron/exon boundary

321

theoretical NMD boundary in CDS

length of CDS

429

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)

28911

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

38056763

original gDNA sequence snippet

ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA

altered gDNA sequence snippet

ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLEPART REEQHNLPVP
KAGSVNLAAG FGHSRSQTGC GSSKGAEKGL QNVDFYLCPG NHPDTSCRDT YQFFCPDWTC
VTLATYSGGS TRSSFHNSCF SS*

mutated AA sequence

N/A

speed

1.09 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