mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 8.12104166225672e-15 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31249861C>GN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000251758

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.2138C>G
g.23083C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2075322

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1095	1021	2116
ExAC	17935	-3103	14832

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.659	0.655
	1.548	0.97
(flanking)	3.2	0.999

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

splice sites

splice site change occurs after stopcodon (at aa 627)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	23079	wt: 0.35 / mu: 0.45	wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC	gcac\|ATCC
Donor marginally increased	23080	wt: 0.9915 / mu: 0.9935 (marginal change - not scored)	wt: TGCACATCCAAGGCT mu: TGCACATCGAAGGCT	CACA\|tcca

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

252 / 252

chromosome

strand

last intron/exon boundary

3131

theoretical NMD boundary in CDS

2829

length of CDS

867

coding sequence (CDS) position

N/A

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

2138

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

23083

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

31249861

original gDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered gDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

original cDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered cDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRAPSDATS SRHPPDASFP AALNFLQRTR
PSSVLSEDLL MQRAVAKHPA LLPWQMSSSP LRPGSEWMRM RMTWRKNT*

mutated AA sequence

N/A

speed

1.27 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