MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 7 transcript(s)...
Querying Taster for transcript #1: ENST00000379238
Querying Taster for transcript #2: ENST00000379225
Querying Taster for transcript #3: ENST00000449054
Querying Taster for transcript #4: ENST00000360802
Querying Taster for transcript #5: ENST00000539807
Querying Taster for transcript #6: ENST00000379239
Querying Taster for transcript #7: ENST00000418786
MT speed 0 s - this script 5.568643 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
UBAP2	polymorphism_automatic	4.40045358041097e-07	simple_aae		affected		N606S	single base exchange	rs307658		show file
UBAP2	polymorphism_automatic	4.40045358041097e-07	simple_aae		affected		N606S	single base exchange	rs307658		show file
UBAP2	polymorphism_automatic	4.40045358041097e-07	simple_aae		affected		N606S	single base exchange	rs307658		show file
UBAP2	polymorphism_automatic	4.40045358041097e-07	simple_aae		affected		N361S	single base exchange	rs307658		show file
UBAP2	polymorphism_automatic	4.40045358041097e-07	simple_aae		affected		N339S	single base exchange	rs307658		show file
UBAP2	polymorphism_automatic	9.92547114997411e-06	simple_aae		affected		N239S	single base exchange	rs307658		show file
UBAP2	polymorphism_automatic	8.47645080219728e-05	simple_aae		affected		N553S	single base exchange	rs307658		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999559954642 (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)

chr9:33941759T>CN/A show variant in all transcripts IGV

HGNC symbol

UBAP2

Ensembl transcript ID

ENST00000379238

Genbank transcript ID

N/A

UniProt peptide

Q5T6F2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1817A>G
cDNA.1935A>G
g.107189A>G

AA changes

N606S Score: 46 explain score(s)

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

606

frameshift

known variant

Reference ID: rs307658

database	homozygous (C/C)	heterozygous	allele carriers
1000G	387	1083	1470
ExAC	8980	14807	23787

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.869	1
	2.002	1
(flanking)	3.765	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
Acc increased	107197	wt: 0.61 / mu: 0.68	wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC	gcta\|GTCC
Donor gained	107183	0.74	mu: CTCATCACTGAGTTC	CATC\|actg

distance from splice site

102

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

606

mutated

all conserved

606

Ptroglodytes

all conserved

ENSPTRG00000020871

606

Mmulatta

all conserved

ENSMMUG00000012597

574

Fcatus

all conserved

ENSFCAG00000009693

606

Mmusculus

all conserved

ENSMUSG00000028433

607

Ggallus

not conserved

ENSGALG00000013809

607

Trubripes

not conserved

ENSTRUG00000015263

621

Drerio

all conserved

ENSDARG00000088318

628

Dmelanogaster

not conserved

FBgn0020279

705

STYA

Celegans

no alignment

R119.4

n/a

Xtropicalis

not conserved

ENSXETG00000002157

601

VTATS

protein features

start (aa)	end (aa)	feature	details
633	633	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
840	840	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3360 / 3360

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

1120 / 1120

position of stopcodon in wt / mu cDNA

3478 / 3478

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

119 / 119

chromosome

strand

-1

last intron/exon boundary

3383

theoretical NMD boundary in CDS

3214

length of CDS

3360

coding sequence (CDS) position

1817

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

1935

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

107189

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

33941759

original gDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered gDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

original cDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered cDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

wildtype AA sequence

MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRGFGRGRG
RGAGRFSTQG MGTFNPADYS DSTSTDVCGT KLVVWEAAQN GADEGTELAS NTHNIAQDLS
NKSSYGLKGA WKNSVEEWTT EDWTEDLSET KVFTASSAPA ENHILPGQSI DLVALLQKPV
PHSQASEANS FETSQQQGFG QALVFTNSQH NNQMAPGTGS STAVNSCSPQ SLSSVLGSGF
GELAPPKMAN ITSSQILDQL KAPSLGQFTT TPSTQQNSTS HPTTTTSWDL KPPTSQSSVL
SHLDFKSQPE PSPVLSQLSQ RQQHQSQAVT VPPPGLESFP SQAKLRESTP GDSPSTVNKL
LQLPSTTIEN ISVSVHQPQP KHIKLAKRRI PPASKIPASA VEMPGSADVT GLNVQFGALE
FGSEPSLSEF GSAPSSENSN QIPISLYSKS LSEPLNTSLS MTSAVQNSTY TTSVITSCSL
TSSSLNSASP VAMSSSYDQS SVHNRIPYQS PVSSSESAPG TIMNGHGGGR SQQTLDTPKT
TGPPSALPSV SSLPSTTSCT ALLPSTSQHT GDLTSSPLSQ LSSSLSSHQS SLSAHAALSS
STSHTHASVE SASSHQSSAT FSTAATSVSS SASSGASLSS SMNTANSLCL GGTPASASSS
SSRAAPLVTS GKAPPNLPQG VPPLLHNQYL VGPGGLLPAY PIYGYDELQM LQSRLPVDYY
GIPFAAPTAL ASRDGSLANN PYPGDVTKFG RGDSASPAPA TTPAQPQQSQ SQTHHTAQQP
FVNPALPPGY SYTGLPYYTG MPSAFQYGPT MFVPPASAKQ HGVNLSTPTP PFQQASGYGQ
HGYSTGYDDL TQGTAAGDYS KGGYAGSSQA PNKSAGSGPG KGVSVSSSTT GLPDMTGSVY
NKTQTFDKQG FHAGTPPPFS LPSVLGSTGP LASGAAPGYA PPPFLHILPA HQQPHSQLLH
HHLPQDAQSG SGQRSQPSSL QPKSQASKPA YGNSPYWTN*

mutated AA sequence

MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRGFGRGRG
RGAGRFSTQG MGTFNPADYS DSTSTDVCGT KLVVWEAAQN GADEGTELAS NTHNIAQDLS
NKSSYGLKGA WKNSVEEWTT EDWTEDLSET KVFTASSAPA ENHILPGQSI DLVALLQKPV
PHSQASEANS FETSQQQGFG QALVFTNSQH NNQMAPGTGS STAVNSCSPQ SLSSVLGSGF
GELAPPKMAN ITSSQILDQL KAPSLGQFTT TPSTQQNSTS HPTTTTSWDL KPPTSQSSVL
SHLDFKSQPE PSPVLSQLSQ RQQHQSQAVT VPPPGLESFP SQAKLRESTP GDSPSTVNKL
LQLPSTTIEN ISVSVHQPQP KHIKLAKRRI PPASKIPASA VEMPGSADVT GLNVQFGALE
FGSEPSLSEF GSAPSSENSN QIPISLYSKS LSEPLNTSLS MTSAVQNSTY TTSVITSCSL
TSSSLSSASP VAMSSSYDQS SVHNRIPYQS PVSSSESAPG TIMNGHGGGR SQQTLDTPKT
TGPPSALPSV SSLPSTTSCT ALLPSTSQHT GDLTSSPLSQ LSSSLSSHQS SLSAHAALSS
STSHTHASVE SASSHQSSAT FSTAATSVSS SASSGASLSS SMNTANSLCL GGTPASASSS
SSRAAPLVTS GKAPPNLPQG VPPLLHNQYL VGPGGLLPAY PIYGYDELQM LQSRLPVDYY
GIPFAAPTAL ASRDGSLANN PYPGDVTKFG RGDSASPAPA TTPAQPQQSQ SQTHHTAQQP
FVNPALPPGY SYTGLPYYTG MPSAFQYGPT MFVPPASAKQ HGVNLSTPTP PFQQASGYGQ
HGYSTGYDDL TQGTAAGDYS KGGYAGSSQA PNKSAGSGPG KGVSVSSSTT GLPDMTGSVY
NKTQTFDKQG FHAGTPPPFS LPSVLGSTGP LASGAAPGYA PPPFLHILPA HQQPHSQLLH
HHLPQDAQSG SGQRSQPSSL QPKSQASKPA YGNSPYWTN*

speed

0.84 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
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999559954642 (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)

chr9:33941759T>CN/A show variant in all transcripts IGV

HGNC symbol

UBAP2

Ensembl transcript ID

ENST00000449054

Genbank transcript ID

N/A

UniProt peptide

Q5T6F2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1817A>G
cDNA.1919A>G
g.107189A>G

AA changes

N606S Score: 46 explain score(s)

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

606

frameshift

known variant

Reference ID: rs307658

database	homozygous (C/C)	heterozygous	allele carriers
1000G	387	1083	1470
ExAC	8980	14807	23787

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.869	1
	2.002	1
(flanking)	3.765	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
Acc increased	107197	wt: 0.61 / mu: 0.68	wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC	gcta\|GTCC
Donor gained	107183	0.74	mu: CTCATCACTGAGTTC	CATC\|actg

distance from splice site

102

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

606

mutated

all conserved

606

Ptroglodytes

all conserved

ENSPTRG00000020871

606

Mmulatta

all conserved

ENSMMUG00000012597

574

Fcatus

all conserved

ENSFCAG00000009693

606

Mmusculus

all conserved

ENSMUSG00000028433

607

Ggallus

not conserved

ENSGALG00000013809

607

Trubripes

not conserved

ENSTRUG00000015263

621

Drerio

all conserved

ENSDARG00000088318

628

Dmelanogaster

not conserved

FBgn0020279

705

STYA

Celegans

no alignment

R119.4

n/a

Xtropicalis

not conserved

ENSXETG00000002157

601

VTATS

protein features

start (aa)	end (aa)	feature	details
633	633	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
840	840	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3360 / 3360

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

1120 / 1120

position of stopcodon in wt / mu cDNA

3462 / 3462

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

103 / 103

chromosome

strand

-1

last intron/exon boundary

3608

theoretical NMD boundary in CDS

3455

length of CDS

3360

coding sequence (CDS) position

1817

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

1919

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

107189

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

33941759

original gDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered gDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

original cDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered cDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

wildtype AA sequence

mutated AA sequence

MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRGFGRGRG
RGAGRFSTQG MGTFNPADYS DSTSTDVCGT KLVVWEAAQN GADEGTELAS NTHNIAQDLS
NKSSYGLKGA WKNSVEEWTT EDWTEDLSET KVFTASSAPA ENHILPGQSI DLVALLQKPV
PHSQASEANS FETSQQQGFG QALVFTNSQH NNQMAPGTGS STAVNSCSPQ SLSSVLGSGF
GELAPPKMAN ITSSQILDQL KAPSLGQFTT TPSTQQNSTS HPTTTTSWDL KPPTSQSSVL
SHLDFKSQPE PSPVLSQLSQ RQQHQSQAVT VPPPGLESFP SQAKLRESTP GDSPSTVNKL
LQLPSTTIEN ISVSVHQPQP KHIKLAKRRI PPASKIPASA VEMPGSADVT GLNVQFGALE
FGSEPSLSEF GSAPSSENSN QIPISLYSKS LSEPLNTSLS MTSAVQNSTY TTSVITSCSL
TSSSLSSASP VAMSSSYDQS SVHNRIPYQS PVSSSESAPG TIMNGHGGGR SQQTLDTPKT
TGPPSALPSV SSLPSTTSCT ALLPSTSQHT GDLTSSPLSQ LSSSLSSHQS SLSAHAALSS
STSHTHASVE SASSHQSSAT FSTAATSVSS SASSGASLSS SMNTANSLCL GGTPASASSS
SSRAAPLVTS GKAPPNLPQG VPPLLHNQYL VGPGGLLPAY PIYGYDELQM LQSRLPVDYY
GIPFAAPTAL ASRDGSLANN PYPGDVTKFG RGDSASPAPA TTPAQPQQSQ SQTHHTAQQP
FVNPALPPGY SYTGLPYYTG MPSAFQYGPT MFVPPASAKQ HGVNLSTPTP PFQQASGYGQ
HGYSTGYDDL TQGTAAGDYS KGGYAGSSQA PNKSAGSGPG KGVSVSSSTT GLPDMTGSVY
NKTQTFDKQG FHAGTPPPFS LPSVLGSTGP LASGAAPGYA PPPFLHILPA HQQPHSQLLH
HHLPQDAQSG SGQRSQPSSL QPKSQASKPA YGNSPYWTN*

speed

0.61 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999559954642 (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)

chr9:33941759T>CN/A show variant in all transcripts IGV

HGNC symbol

UBAP2

Ensembl transcript ID

ENST00000360802

Genbank transcript ID

NM_018449

UniProt peptide

Q5T6F2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1817A>G
cDNA.1930A>G
g.107189A>G

AA changes

N606S Score: 46 explain score(s)

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

606

frameshift

known variant

Reference ID: rs307658

database	homozygous (C/C)	heterozygous	allele carriers
1000G	387	1083	1470
ExAC	8980	14807	23787

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.869	1
	2.002	1
(flanking)	3.765	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
Acc increased	107197	wt: 0.61 / mu: 0.68	wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC	gcta\|GTCC
Donor gained	107183	0.74	mu: CTCATCACTGAGTTC	CATC\|actg

distance from splice site

102

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

606

mutated

all conserved

606

Ptroglodytes

all conserved

ENSPTRG00000020871

606

Mmulatta

all conserved

ENSMMUG00000012597

574

Fcatus

all conserved

ENSFCAG00000009693

606

Mmusculus

all conserved

ENSMUSG00000028433

607

Ggallus

not conserved

ENSGALG00000013809

607

Trubripes

not conserved

ENSTRUG00000015263

621

Drerio

all conserved

ENSDARG00000088318

628

Dmelanogaster

not conserved

FBgn0020279

705

STYA

Celegans

no alignment

R119.4

n/a

Xtropicalis

not conserved

ENSXETG00000002157

601

VTATS

protein features

start (aa)	end (aa)	feature	details
633	633	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
840	840	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3360 / 3360

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

1120 / 1120

position of stopcodon in wt / mu cDNA

3473 / 3473

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

114 / 114

chromosome

strand

-1

last intron/exon boundary

3378

theoretical NMD boundary in CDS

3214

length of CDS

3360

coding sequence (CDS) position

1817

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

1930

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

107189

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

33941759

original gDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered gDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

original cDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered cDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

wildtype AA sequence

mutated AA sequence

MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRGFGRGRG
RGAGRFSTQG MGTFNPADYS DSTSTDVCGT KLVVWEAAQN GADEGTELAS NTHNIAQDLS
NKSSYGLKGA WKNSVEEWTT EDWTEDLSET KVFTASSAPA ENHILPGQSI DLVALLQKPV
PHSQASEANS FETSQQQGFG QALVFTNSQH NNQMAPGTGS STAVNSCSPQ SLSSVLGSGF
GELAPPKMAN ITSSQILDQL KAPSLGQFTT TPSTQQNSTS HPTTTTSWDL KPPTSQSSVL
SHLDFKSQPE PSPVLSQLSQ RQQHQSQAVT VPPPGLESFP SQAKLRESTP GDSPSTVNKL
LQLPSTTIEN ISVSVHQPQP KHIKLAKRRI PPASKIPASA VEMPGSADVT GLNVQFGALE
FGSEPSLSEF GSAPSSENSN QIPISLYSKS LSEPLNTSLS MTSAVQNSTY TTSVITSCSL
TSSSLSSASP VAMSSSYDQS SVHNRIPYQS PVSSSESAPG TIMNGHGGGR SQQTLDTPKT
TGPPSALPSV SSLPSTTSCT ALLPSTSQHT GDLTSSPLSQ LSSSLSSHQS SLSAHAALSS
STSHTHASVE SASSHQSSAT FSTAATSVSS SASSGASLSS SMNTANSLCL GGTPASASSS
SSRAAPLVTS GKAPPNLPQG VPPLLHNQYL VGPGGLLPAY PIYGYDELQM LQSRLPVDYY
GIPFAAPTAL ASRDGSLANN PYPGDVTKFG RGDSASPAPA TTPAQPQQSQ SQTHHTAQQP
FVNPALPPGY SYTGLPYYTG MPSAFQYGPT MFVPPASAKQ HGVNLSTPTP PFQQASGYGQ
HGYSTGYDDL TQGTAAGDYS KGGYAGSSQA PNKSAGSGPG KGVSVSSSTT GLPDMTGSVY
NKTQTFDKQG FHAGTPPPFS LPSVLGSTGP LASGAAPGYA PPPFLHILPA HQQPHSQLLH
HHLPQDAQSG SGQRSQPSSL QPKSQASKPA YGNSPYWTN*

speed

0.43 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999559954642 (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)

chr9:33941759T>CN/A show variant in all transcripts IGV

HGNC symbol

UBAP2

Ensembl transcript ID

ENST00000539807

Genbank transcript ID

N/A

UniProt peptide

Q5T6F2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1082A>G
cDNA.1338A>G
g.107189A>G

AA changes

N361S Score: 46 explain score(s)

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

361

frameshift

known variant

Reference ID: rs307658

database	homozygous (C/C)	heterozygous	allele carriers
1000G	387	1083	1470
ExAC	8980	14807	23787

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.869	1
	2.002	1
(flanking)	3.765	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
Acc increased	107197	wt: 0.61 / mu: 0.68	wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC	gcta\|GTCC
Donor gained	107183	0.74	mu: CTCATCACTGAGTTC	CATC\|actg

distance from splice site

102

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

361

mutated

all conserved

361

Ptroglodytes

all conserved

ENSPTRG00000020871

606

Mmulatta

all conserved

ENSMMUG00000012597

574

Fcatus

all conserved

ENSFCAG00000009693

606

Mmusculus

all conserved

ENSMUSG00000028433

607

Ggallus

not conserved

ENSGALG00000013809

607

Trubripes

not conserved

ENSTRUG00000015263

623

Drerio

all conserved

ENSDARG00000088318

613

Dmelanogaster

not conserved

FBgn0020279

854

Celegans

no alignment

R119.4

n/a

Xtropicalis

not conserved

ENSXETG00000002157

601

VTATS

protein features

start (aa)	end (aa)	feature	details
432	432	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
439	439	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
473	473	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
633	633	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
840	840	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2625 / 2625

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

875 / 875

position of stopcodon in wt / mu cDNA

2881 / 2881

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

257 / 257

chromosome

strand

-1

last intron/exon boundary

2786

theoretical NMD boundary in CDS

2479

length of CDS

2625

coding sequence (CDS) position

1082

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

1338

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

107189

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

33941759

original gDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered gDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

original cDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered cDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

wildtype AA sequence

MRLAQVIFDK NDSDFEAKVK QLSETKVFTA SSAPAENHIL PGQSIDLVAL LQKPVPHSQA
SEANSFETSQ QQGFGQALVF TNSQHNNQMA PGTGSSTAVN SCSPQSLSSV LGSGFGELAP
PKMANITSSQ ILDQLKAPSL GQFTTTPSTQ QNSTSHPTTT TSWDLKPPTS QSSVLSHLDF
KSQPEPSPVL SQLSQRQQHQ SQAVTVPPPG LESFPSQAKL RESTPGDSPS TVNKLLQLPS
TTIENISVSV HQPQPKHIKL AKRRIPPASK IPASAVEMPG SADVTGLNVQ FGALEFGSEP
SLSEFGSAPS SENSNQIPIS LYSKSLSEPL NTSLSMTSAV QNSTYTTSVI TSCSLTSSSL
NSASPVAMSS SYDQSSVHNR IPYQSPVSSS ESAPGTIMNG HGGGRSQQTL DTPKTTGPPS
ALPSVSSLPS TTSCTALLPS TSQHTGDLTS SPLSQLSSSL SSHQSSLSAH AALSSSTSHT
HASVESASSH QSSATFSTAA TSVSSSASSG ASLSSSMNTA NSLCLGGTPA SASSSSSRAA
PLVTSGKAPP NLPQGVPPLL HNQYLVGPGG LLPAYPIYGY DELQMLQSRL PVDYYGIPFA
APTALASRDG SLANNPYPGD VTKFGRGDSA SPAPATTPAQ PQQSQSQTHH TAQQPFVNPA
LPPGYSYTGL PYYTGMPSAF QYGPTMFVPP ASAKQHGVNL STPTPPFQQA SGYGQHGYST
GYDDLTQGTA AGDYSKGGYA GSSQAPNKSA GSGPGKGVSV SSSTTGLPDM TGSVYNKTQT
FDKQGFHAGT PPPFSLPSVL GSTGPLASGA APGYAPPPFL HILPAHQQPH SQLLHHHLPQ
DAQSGSGQRS QPSSLQPKSQ ASKPAYGNSP YWTN*

mutated AA sequence

MRLAQVIFDK NDSDFEAKVK QLSETKVFTA SSAPAENHIL PGQSIDLVAL LQKPVPHSQA
SEANSFETSQ QQGFGQALVF TNSQHNNQMA PGTGSSTAVN SCSPQSLSSV LGSGFGELAP
PKMANITSSQ ILDQLKAPSL GQFTTTPSTQ QNSTSHPTTT TSWDLKPPTS QSSVLSHLDF
KSQPEPSPVL SQLSQRQQHQ SQAVTVPPPG LESFPSQAKL RESTPGDSPS TVNKLLQLPS
TTIENISVSV HQPQPKHIKL AKRRIPPASK IPASAVEMPG SADVTGLNVQ FGALEFGSEP
SLSEFGSAPS SENSNQIPIS LYSKSLSEPL NTSLSMTSAV QNSTYTTSVI TSCSLTSSSL
SSASPVAMSS SYDQSSVHNR IPYQSPVSSS ESAPGTIMNG HGGGRSQQTL DTPKTTGPPS
ALPSVSSLPS TTSCTALLPS TSQHTGDLTS SPLSQLSSSL SSHQSSLSAH AALSSSTSHT
HASVESASSH QSSATFSTAA TSVSSSASSG ASLSSSMNTA NSLCLGGTPA SASSSSSRAA
PLVTSGKAPP NLPQGVPPLL HNQYLVGPGG LLPAYPIYGY DELQMLQSRL PVDYYGIPFA
APTALASRDG SLANNPYPGD VTKFGRGDSA SPAPATTPAQ PQQSQSQTHH TAQQPFVNPA
LPPGYSYTGL PYYTGMPSAF QYGPTMFVPP ASAKQHGVNL STPTPPFQQA SGYGQHGYST
GYDDLTQGTA AGDYSKGGYA GSSQAPNKSA GSGPGKGVSV SSSTTGLPDM TGSVYNKTQT
FDKQGFHAGT PPPFSLPSVL GSTGPLASGA APGYAPPPFL HILPAHQQPH SQLLHHHLPQ
DAQSGSGQRS QPSSLQPKSQ ASKPAYGNSP YWTN*

speed

0.58 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999559954642 (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)

chr9:33941759T>CN/A show variant in all transcripts IGV

HGNC symbol

UBAP2

Ensembl transcript ID

ENST00000379239

Genbank transcript ID

N/A

UniProt peptide

Q5T6F2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1016A>G
cDNA.1554A>G
g.107189A>G

AA changes

N339S Score: 46 explain score(s)

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

339

frameshift

known variant

Reference ID: rs307658

database	homozygous (C/C)	heterozygous	allele carriers
1000G	387	1083	1470
ExAC	8980	14807	23787

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.869	1
	2.002	1
(flanking)	3.765	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
Acc increased	107197	wt: 0.61 / mu: 0.68	wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC	gcta\|GTCC
Donor gained	107183	0.74	mu: CTCATCACTGAGTTC	CATC\|actg

distance from splice site

102

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

339

mutated

all conserved

339

Ptroglodytes

all conserved

ENSPTRG00000020871

606

Mmulatta

all conserved

ENSMMUG00000012597

574

Fcatus

all conserved

ENSFCAG00000009693

606

Mmusculus

all conserved

ENSMUSG00000028433

607

Ggallus

not conserved

ENSGALG00000013809

607

Trubripes

not conserved

ENSTRUG00000015263

621

Drerio

all conserved

ENSDARG00000088318

628

Dmelanogaster

not conserved

FBgn0020279

854

Celegans

no alignment

R119.4

n/a

Xtropicalis

not conserved

ENSXETG00000002157

601

VTATS

protein features

start (aa)	end (aa)	feature	details
432	432	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
439	439	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
473	473	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
633	633	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
840	840	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2559 / 2559

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

853 / 853

position of stopcodon in wt / mu cDNA

3097 / 3097

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

539 / 539

chromosome

strand

-1

last intron/exon boundary

3002

theoretical NMD boundary in CDS

2413

length of CDS

2559

coding sequence (CDS) position

1016

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

1554

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

107189

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

33941759

original gDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered gDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

original cDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered cDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

wildtype AA sequence

MDSKGLGRIL WKSGQQKTGL KIIDLVALLQ KPVPHSQASE ANSFETSQQQ GFGQALVFTN
SQHNNQMAPG TGSSTAVNSC SPQSLSSVLG SGFGELAPPK MANITSSQIL DQLKAPSLGQ
FTTTPSTQQN STSHPTTTTS WDLKPPTSQS SVLSHLDFKS QPEPSPVLSQ LSQRQQHQSQ
AVTVPPPGLE SFPSQAKLRE STPGDSPSTV NKLLQLPSTT IENISVSVHQ PQPKHIKLAK
RRIPPASKIP ASAVEMPGSA DVTGLNVQFG ALEFGSEPSL SEFGSAPSSE NSNQIPISLY
SKSLSEPLNT SLSMTSAVQN STYTTSVITS CSLTSSSLNS ASPVAMSSSY DQSSVHNRIP
YQSPVSSSES APGTIMNGHG GGRSQQTLDT PKTTGPPSAL PSVSSLPSTT SCTALLPSTS
QHTGDLTSSP LSQLSSSLSS HQSSLSAHAA LSSSTSHTHA SVESASSHQS SATFSTAATS
VSSSASSGAS LSSSMNTANS LCLGGTPASA SSSSSRAAPL VTSGKAPPNL PQGVPPLLHN
QYLVGPGGLL PAYPIYGYDE LQMLQSRLPV DYYGIPFAAP TALASRDGSL ANNPYPGDVT
KFGRGDSASP APATTPAQPQ QSQSQTHHTA QQPFVNPALP PGYSYTGLPY YTGMPSAFQY
GPTMFVPPAS AKQHGVNLST PTPPFQQASG YGQHGYSTGY DDLTQGTAAG DYSKGGYAGS
SQAPNKSAGS GPGKGVSVSS STTGLPDMTG SVYNKTQTFD KQGFHAGTPP PFSLPSVLGS
TGPLASGAAP GYAPPPFLHI LPAHQQPHSQ LLHHHLPQDA QSGSGQRSQP SSLQPKSQAS
KPAYGNSPYW TN*

mutated AA sequence

MDSKGLGRIL WKSGQQKTGL KIIDLVALLQ KPVPHSQASE ANSFETSQQQ GFGQALVFTN
SQHNNQMAPG TGSSTAVNSC SPQSLSSVLG SGFGELAPPK MANITSSQIL DQLKAPSLGQ
FTTTPSTQQN STSHPTTTTS WDLKPPTSQS SVLSHLDFKS QPEPSPVLSQ LSQRQQHQSQ
AVTVPPPGLE SFPSQAKLRE STPGDSPSTV NKLLQLPSTT IENISVSVHQ PQPKHIKLAK
RRIPPASKIP ASAVEMPGSA DVTGLNVQFG ALEFGSEPSL SEFGSAPSSE NSNQIPISLY
SKSLSEPLNT SLSMTSAVQN STYTTSVITS CSLTSSSLSS ASPVAMSSSY DQSSVHNRIP
YQSPVSSSES APGTIMNGHG GGRSQQTLDT PKTTGPPSAL PSVSSLPSTT SCTALLPSTS
QHTGDLTSSP LSQLSSSLSS HQSSLSAHAA LSSSTSHTHA SVESASSHQS SATFSTAATS
VSSSASSGAS LSSSMNTANS LCLGGTPASA SSSSSRAAPL VTSGKAPPNL PQGVPPLLHN
QYLVGPGGLL PAYPIYGYDE LQMLQSRLPV DYYGIPFAAP TALASRDGSL ANNPYPGDVT
KFGRGDSASP APATTPAQPQ QSQSQTHHTA QQPFVNPALP PGYSYTGLPY YTGMPSAFQY
GPTMFVPPAS AKQHGVNLST PTPPFQQASG YGQHGYSTGY DDLTQGTAAG DYSKGGYAGS
SQAPNKSAGS GPGKGVSVSS STTGLPDMTG SVYNKTQTFD KQGFHAGTPP PFSLPSVLGS
TGPLASGAAP GYAPPPFLHI LPAHQQPHSQ LLHHHLPQDA QSGSGQRSQP SSLQPKSQAS
KPAYGNSPYW TN*

speed

0.89 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999007452885 (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)

chr9:33941759T>CN/A show variant in all transcripts IGV

HGNC symbol

UBAP2

Ensembl transcript ID

ENST00000379225

Genbank transcript ID

N/A

UniProt peptide

Q5T6F2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.716A>G
cDNA.1140A>G
g.107189A>G

AA changes

N239S Score: 46 explain score(s)

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

239

frameshift

known variant

Reference ID: rs307658

database	homozygous (C/C)	heterozygous	allele carriers
1000G	387	1083	1470
ExAC	8980	14807	23787

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.869	1
	2.002	1
(flanking)	3.765	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
Acc increased	107197	wt: 0.61 / mu: 0.68	wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC	gcta\|GTCC
Donor gained	107183	0.74	mu: CTCATCACTGAGTTC	CATC\|actg

distance from splice site

102

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

239

mutated

all conserved

239

Ptroglodytes

all conserved

ENSPTRG00000020871

606

Mmulatta

all conserved

ENSMMUG00000012597

574

Fcatus

all conserved

ENSFCAG00000009693

606

Mmusculus

all conserved

ENSMUSG00000028433

607

Ggallus

not conserved

ENSGALG00000013809

606

Trubripes

not conserved

ENSTRUG00000015263

623

Drerio

all conserved

ENSDARG00000088318

611

Dmelanogaster

all identical

FBgn0020279

676

Celegans

not conserved

R119.4

446

Xtropicalis

not conserved

ENSXETG00000002157

601

protein features

start (aa)	end (aa)	feature	details
432	432	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
439	439	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
473	473	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
633	633	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
840	840	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

978 / 978

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

326 / 326

position of stopcodon in wt / mu cDNA

1402 / 1402

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

425 / 425

chromosome

strand

-1

last intron/exon boundary

1253

theoretical NMD boundary in CDS

778

length of CDS

978

coding sequence (CDS) position

716

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

1140

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

107189

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

33941759

original gDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered gDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

original cDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered cDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

wildtype AA sequence

MANITSSQIL DQLKAPSLGQ FTTTPSTQQN STSHPTTTTS WDLKPPTSQS SVLSHLDFKS
QPEPSPVLSQ LSQRQQHQSQ AVTVPPPGLE SFPSQAKLRE STPGDSPSTV NKLLQLPSTT
IENISVSVHQ PQPKHIKLAK RRIPPASKIP ASAVEMPGSA DVTGLNVQFG ALEFGSEPSL
SEFGSAPSSE NSNQIPISLY SKSLSEPLNT SLSMTSAVQN STYTTSVITS CSLTSSSLNS
ASPVAMSSSY DQSSVHNRIP YQSPVSSSES APGTIMNGHG GGRSQQTLDS KYSSKLLLSW
LVPTKQRKRI AHVMWKTPVG QWLIR*

mutated AA sequence

MANITSSQIL DQLKAPSLGQ FTTTPSTQQN STSHPTTTTS WDLKPPTSQS SVLSHLDFKS
QPEPSPVLSQ LSQRQQHQSQ AVTVPPPGLE SFPSQAKLRE STPGDSPSTV NKLLQLPSTT
IENISVSVHQ PQPKHIKLAK RRIPPASKIP ASAVEMPGSA DVTGLNVQFG ALEFGSEPSL
SEFGSAPSSE NSNQIPISLY SKSLSEPLNT SLSMTSAVQN STYTTSVITS CSLTSSSLSS
ASPVAMSSSY DQSSVHNRIP YQSPVSSSES APGTIMNGHG GGRSQQTLDS KYSSKLLLSW
LVPTKQRKRI AHVMWKTPVG QWLIR*

speed

0.59 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999915235491978 (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)

chr9:33941759T>CN/A show variant in all transcripts IGV

HGNC symbol

UBAP2

Ensembl transcript ID

ENST00000418786

Genbank transcript ID

N/A

UniProt peptide

Q5T6F2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1658A>G
cDNA.1751A>G
g.107189A>G

AA changes

N553S Score: 46 explain score(s)

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

553

frameshift

known variant

Reference ID: rs307658

database	homozygous (C/C)	heterozygous	allele carriers
1000G	387	1083	1470
ExAC	8980	14807	23787

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.869	1
	2.002	1
(flanking)	3.765	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
Acc increased	107197	wt: 0.61 / mu: 0.68	wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC	gcta\|GTCC
Donor gained	107183	0.74	mu: CTCATCACTGAGTTC	CATC\|actg

distance from splice site

102

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

553

mutated

all conserved

553

Ptroglodytes

all conserved

ENSPTRG00000020871

606

Mmulatta

all conserved

ENSMMUG00000012597

574

Fcatus

all conserved

ENSFCAG00000009693

606

Mmusculus

all conserved

ENSMUSG00000028433

607

Ggallus

not conserved

ENSGALG00000013809

607

Trubripes

not conserved

ENSTRUG00000015263

621

Drerio

all conserved

ENSDARG00000088318

611

Dmelanogaster

all identical

FBgn0020279

676

Celegans

all identical

R119.4

401

SENI

Xtropicalis

not conserved

ENSXETG00000002157

601

VTATS

protein features

start (aa)	end (aa)	feature	details
633	633	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
840	840	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2061 / 2061

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

687 / 687

position of stopcodon in wt / mu cDNA

2154 / 2154

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

94 / 94

chromosome

strand

-1

last intron/exon boundary

2043

theoretical NMD boundary in CDS

1899

length of CDS

2061

coding sequence (CDS) position

1658

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

1751

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

107189

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

33941759

original gDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered gDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

original cDNA sequence snippet

TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA

altered cDNA sequence snippet

TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA

wildtype AA sequence

MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRELASNTH
NIAQDLSNKS SYGLKGAWKN SVEEWTTEDW TEDLSETKVF TASSAPAENH ILPGQSIDLV
ALLQKPVPHS QASEANSFET SQQQGFGQAL VFTNSQHNNQ MAPGTGSSTA VNSCSPQSLS
SVLGSGFGEL APPKMANITS SQILDQLKAP SLGQFTTTPS TQQNSTSHPT TTTSWDLKPP
TSQSSVLSHL DFKSQPEPSP VLSQLSQRQQ HQSQAVTVPP PGLESFPSQA KLRESTPGDS
PSTVNKLLQL PSTTIENISV SVHQPQPKHI KLAKRRIPPA SKIPASAVEM PGSADVTGLN
VQFGALEFGS EPSLSEFGSA PSSENSNQIP ISLYSKSLSE PLNTSLSMTS AVQNSTYTTS
VITSCSLTSS SLNSASPVAM SSSYDQSSVH NRIPYQSPVS SSESAPGTIM NGHGGGRSQQ
TLDTPKTTGP PSALPSVSSL PSTTSCTALL PSTSQHTGDL TSSPLSQLSS MPVWRAPLPT
SPQPPSPRQR PPSQVPHPQA PACPVA*

mutated AA sequence

MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRELASNTH
NIAQDLSNKS SYGLKGAWKN SVEEWTTEDW TEDLSETKVF TASSAPAENH ILPGQSIDLV
ALLQKPVPHS QASEANSFET SQQQGFGQAL VFTNSQHNNQ MAPGTGSSTA VNSCSPQSLS
SVLGSGFGEL APPKMANITS SQILDQLKAP SLGQFTTTPS TQQNSTSHPT TTTSWDLKPP
TSQSSVLSHL DFKSQPEPSP VLSQLSQRQQ HQSQAVTVPP PGLESFPSQA KLRESTPGDS
PSTVNKLLQL PSTTIENISV SVHQPQPKHI KLAKRRIPPA SKIPASAVEM PGSADVTGLN
VQFGALEFGS EPSLSEFGSA PSSENSNQIP ISLYSKSLSE PLNTSLSMTS AVQNSTYTTS
VITSCSLTSS SLSSASPVAM SSSYDQSSVH NRIPYQSPVS SSESAPGTIM NGHGGGRSQQ
TLDTPKTTGP PSALPSVSSL PSTTSCTALL PSTSQHTGDL TSSPLSQLSS MPVWRAPLPT
SPQPPSPRQR PPSQVPHPQA PACPVA*

speed

0.59 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems