mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999729812201969 (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)

chr4:3494600A>GN/A show variant in all transcripts IGV

HGNC symbol

DOK7

Ensembl transcript ID

ENST00000507039

Genbank transcript ID

NM_001164673

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.941A>G
g.29568A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6811423

database	homozygous (G/G)	heterozygous	allele carriers
1000G	201	690	891
ExAC	2920	17435	20355

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.445	0.112
	-0.069	0.119
(flanking)	0.358	0.348

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

splice sites

splice site change occurs after stopcodon (at aa 288) splice site change occurs after stopcodon (at aa 290) splice site change occurs after stopcodon (at aa 291)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	29558	wt: 0.36 / mu: 0.50	wt: AGCAATCCTCGTCGTCAGCCAGCACGTCACAGGAGGGGCCT mu: AGCAATCCTCGTCGTCAGCCAGCACGTCACGGGAGGGGCCT	gcca\|GCAC
Acc increased	29562	wt: 0.43 / mu: 0.47	wt: ATCCTCGTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGAC mu: ATCCTCGTCGTCAGCCAGCACGTCACGGGAGGGGCCTAGAC	gcac\|GTCA
Donor increased	29562	wt: 0.54 / mu: 0.99	wt: CAGCACGTCACAGGA mu: CAGCACGTCACGGGA	GCAC\|gtca
Donor gained	29567	0.97	mu: CGTCACGGGAGGGGC	TCAC\|ggga

distance from splice site

115

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

66 / 66

chromosome

strand

last intron/exon boundary

827

theoretical NMD boundary in CDS

711

length of CDS

768

coding sequence (CDS) position

N/A

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

941

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

29568

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

3494600

original gDNA sequence snippet

GTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGACCAGCAG

altered gDNA sequence snippet

GTCGTCAGCCAGCACGTCACGGGAGGGGCCTAGACCAGCAG

original cDNA sequence snippet

GTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGACCAGCAG

altered cDNA sequence snippet

GTCGTCAGCCAGCACGTCACGGGAGGGGCCTAGACCAGCAG

wildtype AA sequence

MTEAALVEGQ VKLRDGKKWK SRWLVLRKPS PVADCLLMLV YKDKSERIKG LRERSSLTLE
DICGLEPGLP YEGLVHTLAI VCLSQAIMLG FDSHEAMCAW DARIRYALGE VHRFHVTVAP
GTKLESGPAT LHLCNDVLVL ARDIPPAVTG QWKLSDLRRY GAVPSGFIFE GGTRGWRLLP
VLGRGGADQL PVRLHRPRHL PHQGPLWAAA GSTRPKSPGT LDCGGACGPG SPGNPTAGEA
AEPPLTCGQA GQWRG*

mutated AA sequence

N/A

speed

1.21 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