mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999843774227 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A6

Ensembl transcript ID

ENST00000373424

Genbank transcript ID

NM_205862

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.1939A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

known disease mutation at this position, please check HGMD for details (HGMD ID CP995124)

known disease mutation at this position, please check HGMD for details (HGMD ID CP995124)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057770)

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	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	1933	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	1931	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG
Acc marginally increased	1932	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC
Acc marginally increased	1929	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG

distance from splice site

254

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

222 / 222

chromosome

strand

last intron/exon boundary

722

theoretical NMD boundary in CDS

450

length of CDS

798

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)

1939

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MPNMVFIGGI NCKKRKDLSQ EFEAYINASG EHGIVVFSLG SMVSEIPEKK AMAIADALGK
IPQTVLWRYT GTRPSNLANN TILVKWLPQN DLLGHPMTRA FITHAGSHGV YESICNGVPM
VMMPLFGDQM DNAKRMETKG AGVTLNVLEM TSEDLENALK AVINDKSYKE NIMRLSSLHK
DRPVEPLDLA VFWVEFVMRH KGAPHLRPAA HDLTWYQYHS LDVIGFLLAV VLTVAFITFK
CCAYGYRKCL GKKGRVKKAH KSKTH*

mutated AA sequence

N/A

speed

0.93 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