mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999998730952137 (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)

chr20:62715548C>AN/A show variant in all transcripts IGV

HGNC symbol

OPRL1

Ensembl transcript ID

ENST00000336866

Genbank transcript ID

NM_182647

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.4023C>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4431000

database	homozygous (A/A)	heterozygous	allele carriers
1000G	621	1185	1806
ExAC	457	1379	1836

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.747	0.017
	0.387	0.017
(flanking)	-0.334	0.012

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	4023	wt: 0.6766 / mu: 0.6868 (marginal change - not scored)	wt: CTCCCGCGGGCCCTTGCGCCCGCCCTCCTTCGCTGGCGGCG mu: CTCCCGCGGGCCCTTGCGCCAGCCCTCCTTCGCTGGCGGCG	gccc\|GCCC
Acc marginally increased	4019	wt: 0.3026 / mu: 0.3070 (marginal change - not scored)	wt: TTCGCTCCCGCGGGCCCTTGCGCCCGCCCTCCTTCGCTGGC mu: TTCGCTCCCGCGGGCCCTTGCGCCAGCCCTCCTTCGCTGGC	ttgc\|GCCC

distance from splice site

3843

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

365 / 365

chromosome

strand

last intron/exon boundary

954

theoretical NMD boundary in CDS

539

length of CDS

1113

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)

4023

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

62715548

original gDNA sequence snippet

CTCCCGCGGGCCCTTGCGCCCGCCCTCCTTCGCTGGCGGCG

altered gDNA sequence snippet

CTCCCGCGGGCCCTTGCGCCAGCCCTCCTTCGCTGGCGGCG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MEPLFPAPFW EVIYGSHLQG NLSLLSPNHS LLPPHLLLNA SHGAFLPLGL KVTIVGLYLA
VCVGGLLGNC LVMYVILRHT KMKTATNIYI FNLALADTLV LLTLPFQGTD ILLGFWPFGN
ALCKTVIAID YYNMFTSTFT LTAMSVDRYV AICHPIRALD VRTSSKAQAV NVAIWALASV
VGVPVAIMGS AQVEDEEIEC LVEIPTPQDY WGPVFAICIF LFSFIVPVLV ISVCYSLMIR
RLRGVRLLSG SREKDRNLRR ITRLVLVVVA VFVGCWTPVQ VFVLAQGLGV QPSSETAVAI
LRFCTALGYV NSCLNPILYA FLDENFKACF RKFCCASALR RDVQVSDRVR SIAKDVALAC
KTSETVPRPA *

mutated AA sequence

N/A

speed

0.19 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