mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 2.78401105541849e-18 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:6705874G>CN/A show variant in all transcripts IGV

HGNC symbol

DNAJC11

Ensembl transcript ID

ENST00000349363

Genbank transcript ID

N/A

UniProt peptide

Q9NVH1

alteration type

single base exchange

alteration region

intron

DNA changes

g.56111C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs200454

database	homozygous (C/C)	heterozygous	allele carriers
1000G	107	593	700
ExAC	3779	19012	22791

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.761	1
	1.832	1
(flanking)	2.863	1

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 increased	56105	wt: 0.21 / mu: 0.94	wt: AGACACTAAAACCAG mu: AGACACTAAAAGCAG	ACAC\|taaa
Donor gained	56110	0.72	mu: CTAAAAGCAGCCACT	AAAA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
309	309	CONFLICT	S -> I (in Ref. 1; BAA91780).	might get lost (downstream of altered splice site)
417	457	COILED	Potential.	might get lost (downstream of altered splice site)

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

43 / 43

chromosome

strand

-1

last intron/exon boundary

741

theoretical NMD boundary in CDS

648

length of CDS

957

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)

56111

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

6705874

original gDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered gDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLYHPDKHRD PELKSQAERL FNLVHQAYEV LSDPQTRAIY DIYGKRGLEM EGWEVVERRR
TPAEIREEFE RLQREREERR LQQRTNPKGT ISVGVDATDL FDRYDEEYED VSGSSFPQIE
INKMHISQSI EAPLTATDTA ILSGSLSTQN GNGGGSINFA LRRVTSAKGW GELEFGAGDL
QGPLFGLKLF RNLTPRCFVT TNCALQFSSR GIRPGLTTVL ARNLDKNTVG YLQWHCSSPL
LQVQRPHRNT RACAPEPSFR PFLHVPTWDA ECSGARTPST AWTSAAVKLR EACLSGPGSG
SHQLLLLTPR SKRRTGGG*

mutated AA sequence

N/A

speed

0.99 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