mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999971671 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
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)

chr1:65867519G>AN/A show variant in all transcripts IGV

HGNC symbol

DNAJC6

Ensembl transcript ID

ENST00000371069

Genbank transcript ID

N/A

UniProt peptide

O75061

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2183G>A
cDNA.2384G>A
g.153618G>A

AA changes

S728N Score: 46 explain score(s)

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

728

frameshift

known variant

Reference ID: rs4915691

database	homozygous (A/A)	heterozygous	allele carriers
1000G	438	928	1366
ExAC	3822	13315	17137

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.141	0
	-1.207	0
(flanking)	1.52	0.904

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	153616	wt: 0.66 / mu: 0.86	wt: CATCAAAGCAAACCC mu: CATCAAAACAAACCC	TCAA\|agca
Donor marginally increased	153611	wt: 0.3064 / mu: 0.3299 (marginal change - not scored)	wt: CCACCCATCAAAGCA mu: CCACCCATCAAAACA	ACCC\|atca
Donor gained	153618	0.31	mu: TCAAAACAAACCCCA	AAAA\|caaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

728

mutated

all conserved

728

Ptroglodytes

all conserved

ENSPTRG00000000829

728

Mmulatta

all conserved

ENSMMUG00000017259

728

Fcatus

not conserved

ENSFCAG00000008367

728

Mmusculus

all identical

ENSMUSG00000028528

726

Ggallus

not conserved

ENSGALG00000011041

675

Trubripes

not conserved

ENSTRUG00000018550

695

Drerio

all conserved

ENSDARG00000079891

634

Dmelanogaster

not conserved

FBgn0037218

963

Celegans

not conserved

W07A8.3

528

VDFDLGAP

Xtropicalis

not conserved

ENSXETG00000020390

551

protein features

start (aa)	end (aa)	feature	details
466	760	COMPBIAS	Pro-rich.	lost
849	913	DOMAIN	J.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2913 / 2913

position (AA) of stopcodon in wt / mu AA sequence

971 / 971

position of stopcodon in wt / mu cDNA

3114 / 3114

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

202 / 202

chromosome

strand

last intron/exon boundary

3013

theoretical NMD boundary in CDS

2761

length of CDS

2913

coding sequence (CDS) position

2183

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

2384

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

153618

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

65867519

original gDNA sequence snippet

TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC

altered gDNA sequence snippet

TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC

original cDNA sequence snippet

TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC

altered cDNA sequence snippet

TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC

wildtype AA sequence

MSLLGSYRKK TSNDGYESLQ LVDSNGDLSA GSGGVGGKQR VNAGAAARSP ARQPPDRAST
MDSSGASSPD MEPSYGGGLF DMVKGGAGRL FSNLKDNLKD TLKDTSSRVI QSVTSYTKGD
LDFTYVTSRI IVMSFPLDNV DIGFRNQVDD IRSFLDSRHL DHYTVYNLSP KSYRTAKFHS
RVSECSWPIR QAPSLHNLFA VCRNMYNWLL QNPKNVCVVH CLDGRAASSI LVGAMFIFCN
LYSTPGPAIR LLYAKRPGIG LSPSHRRYLG YMCDLLADKP YRPHFKPLTI KSITVSPIPF
FNKQRNGCRP YCDVLIGETK IYSTCTDFER MKEYRVQDGK IFIPLNITVQ GDVVVSMYHL
RSTIGSRLQA KVTNTQIFQL QFHTGFIPLD TTVLKFTKPE LDACDVPEKY PQLFQVTLDV
ELQPHDKVID LTPPWEHYCT KDVNPSILFS SHQEHQDTLA LGGQAPIDIP PDNPRHYGQS
GFFASLCWQD QKSEKSFCEE DHAALVNQES EQSDDELLTL SSPHGNANGD KPHGVKKPSK
KQQEPAAPPP PEDVDLLGLE GSAMSNSFSP PAAPPTNSEL LSDLFGGGGA AGPTQAGQSG
VEDVFHPSGP ASTQSTPRRS ATSTSASPTL RVGEGATFDP FGAPSKPSGQ DLLGSFLNTS
SASSDPFLQP TRSPSPTVHA SSTPAVNIQP DVSGGWDWHA KPGGFGMGSK SAATSPTGSS
HGTPTHQSKP QTLDPFADLG TLGSSSFASK PTTPTGLGGG FPPLSSPQKA SPQPMGGGWQ
QGGAYNWQQP QPKPQPSMPH SSPQNRPNYN VSFSAMPGGQ NERGKGSSNL EGKQKAADFE
DLLSGQGFNA HKDKKGPRTI AEMRKEEMAK EMDPEKLKIL EWIEGKERNI RALLSTMHTV
LWAGETKWKP VGMADLVTPE QVKKVYRKAV LVVHPDKATG QPYEQYAKMI FMELNDAWSE
FENQGQKPLY *

mutated AA sequence

MSLLGSYRKK TSNDGYESLQ LVDSNGDLSA GSGGVGGKQR VNAGAAARSP ARQPPDRAST
MDSSGASSPD MEPSYGGGLF DMVKGGAGRL FSNLKDNLKD TLKDTSSRVI QSVTSYTKGD
LDFTYVTSRI IVMSFPLDNV DIGFRNQVDD IRSFLDSRHL DHYTVYNLSP KSYRTAKFHS
RVSECSWPIR QAPSLHNLFA VCRNMYNWLL QNPKNVCVVH CLDGRAASSI LVGAMFIFCN
LYSTPGPAIR LLYAKRPGIG LSPSHRRYLG YMCDLLADKP YRPHFKPLTI KSITVSPIPF
FNKQRNGCRP YCDVLIGETK IYSTCTDFER MKEYRVQDGK IFIPLNITVQ GDVVVSMYHL
RSTIGSRLQA KVTNTQIFQL QFHTGFIPLD TTVLKFTKPE LDACDVPEKY PQLFQVTLDV
ELQPHDKVID LTPPWEHYCT KDVNPSILFS SHQEHQDTLA LGGQAPIDIP PDNPRHYGQS
GFFASLCWQD QKSEKSFCEE DHAALVNQES EQSDDELLTL SSPHGNANGD KPHGVKKPSK
KQQEPAAPPP PEDVDLLGLE GSAMSNSFSP PAAPPTNSEL LSDLFGGGGA AGPTQAGQSG
VEDVFHPSGP ASTQSTPRRS ATSTSASPTL RVGEGATFDP FGAPSKPSGQ DLLGSFLNTS
SASSDPFLQP TRSPSPTVHA SSTPAVNIQP DVSGGWDWHA KPGGFGMGSK SAATSPTGSS
HGTPTHQNKP QTLDPFADLG TLGSSSFASK PTTPTGLGGG FPPLSSPQKA SPQPMGGGWQ
QGGAYNWQQP QPKPQPSMPH SSPQNRPNYN VSFSAMPGGQ NERGKGSSNL EGKQKAADFE
DLLSGQGFNA HKDKKGPRTI AEMRKEEMAK EMDPEKLKIL EWIEGKERNI RALLSTMHTV
LWAGETKWKP VGMADLVTPE QVKKVYRKAV LVVHPDKATG QPYEQYAKMI FMELNDAWSE
FENQGQKPLY *

speed

0.52 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