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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000356858
Querying Taster for transcript #2: ENST00000368674
Querying Taster for transcript #3: ENST00000544758
Querying Taster for transcript #4: ENST00000284694
Querying Taster for transcript #5: ENST00000454341
Querying Taster for transcript #6: ENST00000392694
MT speed 0 s - this script 2.877302 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
C10orf90	polymorphism_automatic	6.11369843639409e-11	simple_aae		affected		R87H	single base exchange	rs11245008		show file
C10orf90	polymorphism_automatic	6.11369843639409e-11	simple_aae		affected		R87H	single base exchange	rs11245008		show file
C10orf90	polymorphism_automatic	6.11369843639409e-11	simple_aae		affected		R231H	single base exchange	rs11245008		show file
C10orf90	polymorphism_automatic	6.11369843639409e-11	simple_aae		affected		R87H	single base exchange	rs11245008		show file
C10orf90	polymorphism_automatic	7.96059884677902e-11	simple_aae		affected		R134H	single base exchange	rs11245008		show file
C10orf90	polymorphism_automatic	7.96059884677902e-11	simple_aae		affected		R134H	single base exchange	rs11245008		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999938863 (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)

chr10:128193368C>TN/A show variant in all transcripts IGV

HGNC symbol

C10orf90

Ensembl transcript ID

ENST00000356858

Genbank transcript ID

N/A

UniProt peptide

Q96M02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.260G>A
cDNA.1112G>A
g.165712G>A

AA changes

R87H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs11245008

database	homozygous (T/T)	heterozygous	allele carriers
1000G	169	739	908
ExAC	1676	13792	15468

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.314	0
	-2.83	0
(flanking)	0.026	0

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 gained	165712	0.67	mu: CCCCCACAGAGGGTT	CCCA\|caga

distance from splice site

287

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000003047

134

Mmulatta

all identical

ENSMMUG00000009663

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030994

132

Ggallus

all identical

ENSGALG00000009741

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
116	224	REGION	Required for interaction with HDAC1 (By similarity).	might get lost (downstream of altered splice site)
571	699	REGION	ALMS motif (By similarity).	might get lost (downstream of altered splice site)
654	654	CONFLICT	R -> G (in Ref. 3; BAB71512).	might get lost (downstream of altered splice site)
663	666	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1959 / 1959

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

653 / 653

position of stopcodon in wt / mu cDNA

2811 / 2811

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

853 / 853

chromosome

strand

-1

last intron/exon boundary

2773

theoretical NMD boundary in CDS

1870

length of CDS

1959

coding sequence (CDS) position

260

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

1112

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

165712

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

128193368

original gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

original cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

wildtype AA sequence

MISSIVISQM IDENKSRENR ASLPLPCAIA QSRAHHAKQS LANRSGVNIH RAFALLPGRL
GIPAPSDERG PEAELPPKEE RPCGGPRRGF ASITITARRV GPPARALVWG TAGDSLCPKC
RAEDTLFQAP PALANGAHPG RHQRSFACTE FSRNSSVVRL KVPEAHTGLC ERRKYWVTHA
DDKETSFSPD TPLSGKSPLV FSSCVHLRVS QQCPDSIYYV DKSLSVPIEP PQIASPKMHR
SVLSLNLNCS SHRLTADGVD GLVNREPISE ALKQELLEGD QDLVGQRWNP GLQESHLKET
PSLRRVHLGT GACPWSGSFP LENTELANVG ANQVTVRKGE KDHTTHCHAS DHANQLSIHI
PGWSYRAVHT KVFSGSSKRQ QGEVCMTVSA PPVEQKPTRH FLPIGDSSPS DDCLSRDLSE
PTERRHQSFL KPRILFPGFL CPLQDVCASL QEDNGVQIES KFPKGDYTCC DLVVKIKECK
KSEDPTTPEP SPAAPSPAPR DGAGSPGLSE DCSESQQTPA RSLTLQEALE VRKPQFISRS
QERLKKLEHM VQQRKAQRKE DLRQKQSLLP IRTSKKQFTI PHPLSDNLFK PKERCISEKE
MHMRSKRIYD NLPEVKKKKE EQRKRVILQS NRLRAEVFKK QLLDQLLQRN AV*

mutated AA sequence

MISSIVISQM IDENKSRENR ASLPLPCAIA QSRAHHAKQS LANRSGVNIH RAFALLPGRL
GIPAPSDERG PEAELPPKEE RPCGGPHRGF ASITITARRV GPPARALVWG TAGDSLCPKC
RAEDTLFQAP PALANGAHPG RHQRSFACTE FSRNSSVVRL KVPEAHTGLC ERRKYWVTHA
DDKETSFSPD TPLSGKSPLV FSSCVHLRVS QQCPDSIYYV DKSLSVPIEP PQIASPKMHR
SVLSLNLNCS SHRLTADGVD GLVNREPISE ALKQELLEGD QDLVGQRWNP GLQESHLKET
PSLRRVHLGT GACPWSGSFP LENTELANVG ANQVTVRKGE KDHTTHCHAS DHANQLSIHI
PGWSYRAVHT KVFSGSSKRQ QGEVCMTVSA PPVEQKPTRH FLPIGDSSPS DDCLSRDLSE
PTERRHQSFL KPRILFPGFL CPLQDVCASL QEDNGVQIES KFPKGDYTCC DLVVKIKECK
KSEDPTTPEP SPAAPSPAPR DGAGSPGLSE DCSESQQTPA RSLTLQEALE VRKPQFISRS
QERLKKLEHM VQQRKAQRKE DLRQKQSLLP IRTSKKQFTI PHPLSDNLFK PKERCISEKE
MHMRSKRIYD NLPEVKKKKE EQRKRVILQS NRLRAEVFKK QLLDQLLQRN AV*

speed

0.14 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: 0.999999999938863 (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)

chr10:128193368C>TN/A show variant in all transcripts IGV

HGNC symbol

C10orf90

Ensembl transcript ID

ENST00000368674

Genbank transcript ID

N/A

UniProt peptide

Q96M02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.260G>A
cDNA.1018G>A
g.165712G>A

AA changes

R87H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs11245008

database	homozygous (T/T)	heterozygous	allele carriers
1000G	169	739	908
ExAC	1676	13792	15468

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.314	0
	-2.83	0
(flanking)	0.026	0

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 gained	165712	0.67	mu: CCCCCACAGAGGGTT	CCCA\|caga

distance from splice site

287

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000003047

134

Mmulatta

all identical

ENSMMUG00000009663

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030994

132

Ggallus

all identical

ENSGALG00000009741

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
116	224	REGION	Required for interaction with HDAC1 (By similarity).	might get lost (downstream of altered splice site)
571	699	REGION	ALMS motif (By similarity).	might get lost (downstream of altered splice site)
654	654	CONFLICT	R -> G (in Ref. 3; BAB71512).	might get lost (downstream of altered splice site)
663	666	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1152 / 1152

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

384 / 384

position of stopcodon in wt / mu cDNA

1910 / 1910

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

759 / 759

chromosome

strand

-1

last intron/exon boundary

1861

theoretical NMD boundary in CDS

1052

length of CDS

1152

coding sequence (CDS) position

260

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

1018

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

165712

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

128193368

original gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

original cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

wildtype AA sequence

mutated AA sequence

speed

0.35 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999938863 (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)

chr10:128193368C>TN/A show variant in all transcripts IGV

HGNC symbol

C10orf90

Ensembl transcript ID

ENST00000544758

Genbank transcript ID

N/A

UniProt peptide

Q96M02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.692G>A
cDNA.722G>A
g.165712G>A

AA changes

R231H Score: 29 explain score(s)

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

231

frameshift

known variant

Reference ID: rs11245008

database	homozygous (T/T)	heterozygous	allele carriers
1000G	169	739	908
ExAC	1676	13792	15468

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.314	0
	-2.83	0
(flanking)	0.026	0

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 gained	165712	0.67	mu: CCCCCACAGAGGGTT	CCCA\|caga

distance from splice site

287

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

231

mutated

not conserved

231

Ptroglodytes

all identical

ENSPTRG00000003047

134

Mmulatta

all identical

ENSMMUG00000009663

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030994

132

Ggallus

all identical

ENSGALG00000009741

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
571	699	REGION	ALMS motif (By similarity).	might get lost (downstream of altered splice site)
654	654	CONFLICT	R -> G (in Ref. 3; BAB71512).	might get lost (downstream of altered splice site)
663	666	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2391 / 2391

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

797 / 797

position of stopcodon in wt / mu cDNA

2421 / 2421

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

31 / 31

chromosome

strand

-1

last intron/exon boundary

2383

theoretical NMD boundary in CDS

2302

length of CDS

2391

coding sequence (CDS) position

692

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

722

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

165712

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

128193368

original gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

original cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

wildtype AA sequence

MQHSGIPTKT HPQGYAARYT ETAVHRTFQI KTFSTELKNH VMVMDFVKSN WFPSQRRAKV
CIIHMCQGLK TAEQTASRYE IHSRLFSSPK DHSAWERNES LSNAGLRDSY HSRRDQIALK
NLQSDVTEAK SDFTKETLAS QNTKMISSIV ISQMIDENKS RENRASLPLP CAIAQSRAHH
AKQSLANRSG VNIHRAFALL PGRLGIPAPS DERGPEAELP PKEERPCGGP RRGFASITIT
ARRVGPPARA LVWGTAGDSL CPKCRAEDTL FQAPPALANG AHPGRHQRSF ACTEFSRNSS
VVRLKVPEAH TGLCERRKYW VTHADDKETS FSPDTPLSGK SPLVFSSCVH LRVSQQCPDS
IYYVDKSLSV PIEPPQIASP KMHRSVLSLN LNCSSHRLTA DGVDGLVNRE PISEALKQEL
LEGDQDLVGQ RWNPGLQESH LKETPSLRRV HLGTGACPWS GSFPLENTEL ANVGANQVTV
RKGEKDHTTH CHASDHANQL SIHIPGWSYR AVHTKVFSGS SKRQQGEVCM TVSAPPVEQK
PTRHFLPIGD SSPSDDCLSR DLSEPTERRH QSFLKPRILF PGFLCPLQDV CASLQEDNGV
QIESKFPKGD YTCCDLVVKI KECKKSEDPT TPEPSPAAPS PAPRDGAGSP GLSEDCSESQ
QTPARSLTLQ EALEVRKPQF ISRSQERLKK LEHMVQQRKA QRKEDLRQKQ SLLPIRTSKK
QFTIPHPLSD NLFKPKERCI SEKEMHMRSK RIYDNLPEVK KKKEEQRKRV ILQSNRLRAE
VFKKQLLDQL LQRNAV*

mutated AA sequence

MQHSGIPTKT HPQGYAARYT ETAVHRTFQI KTFSTELKNH VMVMDFVKSN WFPSQRRAKV
CIIHMCQGLK TAEQTASRYE IHSRLFSSPK DHSAWERNES LSNAGLRDSY HSRRDQIALK
NLQSDVTEAK SDFTKETLAS QNTKMISSIV ISQMIDENKS RENRASLPLP CAIAQSRAHH
AKQSLANRSG VNIHRAFALL PGRLGIPAPS DERGPEAELP PKEERPCGGP HRGFASITIT
ARRVGPPARA LVWGTAGDSL CPKCRAEDTL FQAPPALANG AHPGRHQRSF ACTEFSRNSS
VVRLKVPEAH TGLCERRKYW VTHADDKETS FSPDTPLSGK SPLVFSSCVH LRVSQQCPDS
IYYVDKSLSV PIEPPQIASP KMHRSVLSLN LNCSSHRLTA DGVDGLVNRE PISEALKQEL
LEGDQDLVGQ RWNPGLQESH LKETPSLRRV HLGTGACPWS GSFPLENTEL ANVGANQVTV
RKGEKDHTTH CHASDHANQL SIHIPGWSYR AVHTKVFSGS SKRQQGEVCM TVSAPPVEQK
PTRHFLPIGD SSPSDDCLSR DLSEPTERRH QSFLKPRILF PGFLCPLQDV CASLQEDNGV
QIESKFPKGD YTCCDLVVKI KECKKSEDPT TPEPSPAAPS PAPRDGAGSP GLSEDCSESQ
QTPARSLTLQ EALEVRKPQF ISRSQERLKK LEHMVQQRKA QRKEDLRQKQ SLLPIRTSKK
QFTIPHPLSD NLFKPKERCI SEKEMHMRSK RIYDNLPEVK KKKEEQRKRV ILQSNRLRAE
VFKKQLLDQL LQRNAV*

speed

0.39 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999938863 (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)

chr10:128193368C>TN/A show variant in all transcripts IGV

HGNC symbol

C10orf90

Ensembl transcript ID

ENST00000392694

Genbank transcript ID

N/A

UniProt peptide

Q96M02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.260G>A
cDNA.522G>A
g.165712G>A

AA changes

R87H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs11245008

database	homozygous (T/T)	heterozygous	allele carriers
1000G	169	739	908
ExAC	1676	13792	15468

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.314	0
	-2.83	0
(flanking)	0.026	0

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 gained	165712	0.67	mu: CCCCCACAGAGGGTT	CCCA\|caga

distance from splice site

287

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000003047

134

Mmulatta

all identical

ENSMMUG00000009663

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030994

132

Ggallus

all identical

ENSGALG00000009741

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
116	224	REGION	Required for interaction with HDAC1 (By similarity).	might get lost (downstream of altered splice site)
571	699	REGION	ALMS motif (By similarity).	might get lost (downstream of altered splice site)
654	654	CONFLICT	R -> G (in Ref. 3; BAB71512).	might get lost (downstream of altered splice site)
663	666	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1152 / 1152

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

384 / 384

position of stopcodon in wt / mu cDNA

1414 / 1414

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

263 / 263

chromosome

strand

-1

last intron/exon boundary

1365

theoretical NMD boundary in CDS

1052

length of CDS

1152

coding sequence (CDS) position

260

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

522

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

165712

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

128193368

original gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

original cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

wildtype AA sequence

mutated AA sequence

speed

0.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999920394 (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)

chr10:128193368C>TN/A show variant in all transcripts IGV

HGNC symbol

C10orf90

Ensembl transcript ID

ENST00000284694

Genbank transcript ID

NM_001004298

UniProt peptide

Q96M02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.401G>A
cDNA.522G>A
g.165712G>A

AA changes

R134H Score: 29 explain score(s)

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

134

frameshift

known variant

Reference ID: rs11245008

database	homozygous (T/T)	heterozygous	allele carriers
1000G	169	739	908
ExAC	1676	13792	15468

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.314	0
	-2.83	0
(flanking)	0.026	0

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 gained	165712	0.67	mu: CCCCCACAGAGGGTT	CCCA\|caga

distance from splice site

287

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000003047

134

Mmulatta

all identical

ENSMMUG00000009663

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030994

132

Ggallus

all identical

ENSGALG00000009741

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
116	224	REGION	Required for interaction with HDAC1 (By similarity).	lost
571	699	REGION	ALMS motif (By similarity).	might get lost (downstream of altered splice site)
654	654	CONFLICT	R -> G (in Ref. 3; BAB71512).	might get lost (downstream of altered splice site)
663	666	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2100 / 2100

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

700 / 700

position of stopcodon in wt / mu cDNA

2221 / 2221

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

122 / 122

chromosome

strand

-1

last intron/exon boundary

2183

theoretical NMD boundary in CDS

2011

length of CDS

2100

coding sequence (CDS) position

401

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

522

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

165712

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

128193368

original gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

original cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

wildtype AA sequence

MLKLSGEGLR DSYHSRRDQI ALKNLQSDVT EAKSDFTKET LASQNTKMIS SIVISQMIDE
NKSRENRASL PLPCAIAQSR AHHAKQSLAN RSGVNIHRAF ALLPGRLGIP APSDERGPEA
ELPPKEERPC GGPRRGFASI TITARRVGPP ARALVWGTAG DSLCPKCRAE DTLFQAPPAL
ANGAHPGRHQ RSFACTEFSR NSSVVRLKVP EAHTGLCERR KYWVTHADDK ETSFSPDTPL
SGKSPLVFSS CVHLRVSQQC PDSIYYVDKS LSVPIEPPQI ASPKMHRSVL SLNLNCSSHR
LTADGVDGLV NREPISEALK QELLEGDQDL VGQRWNPGLQ ESHLKETPSL RRVHLGTGAC
PWSGSFPLEN TELANVGANQ VTVRKGEKDH TTHCHASDHA NQLSIHIPGW SYRAVHTKVF
SGSSKRQQGE VCMTVSAPPV EQKPTRHFLP IGDSSPSDDC LSRDLSEPTE RRHQSFLKPR
ILFPGFLCPL QDVCASLQED NGVQIESKFP KGDYTCCDLV VKIKECKKSE DPTTPEPSPA
APSPAPRDGA GSPGLSEDCS ESQQTPARSL TLQEALEVRK PQFISRSQER LKKLEHMVQQ
RKAQRKEDLR QKQSLLPIRT SKKQFTIPHP LSDNLFKPKE RCISEKEMHM RSKRIYDNLP
EVKKKKEEQR KRVILQSNRL RAEVFKKQLL DQLLQRNAV*

mutated AA sequence

MLKLSGEGLR DSYHSRRDQI ALKNLQSDVT EAKSDFTKET LASQNTKMIS SIVISQMIDE
NKSRENRASL PLPCAIAQSR AHHAKQSLAN RSGVNIHRAF ALLPGRLGIP APSDERGPEA
ELPPKEERPC GGPHRGFASI TITARRVGPP ARALVWGTAG DSLCPKCRAE DTLFQAPPAL
ANGAHPGRHQ RSFACTEFSR NSSVVRLKVP EAHTGLCERR KYWVTHADDK ETSFSPDTPL
SGKSPLVFSS CVHLRVSQQC PDSIYYVDKS LSVPIEPPQI ASPKMHRSVL SLNLNCSSHR
LTADGVDGLV NREPISEALK QELLEGDQDL VGQRWNPGLQ ESHLKETPSL RRVHLGTGAC
PWSGSFPLEN TELANVGANQ VTVRKGEKDH TTHCHASDHA NQLSIHIPGW SYRAVHTKVF
SGSSKRQQGE VCMTVSAPPV EQKPTRHFLP IGDSSPSDDC LSRDLSEPTE RRHQSFLKPR
ILFPGFLCPL QDVCASLQED NGVQIESKFP KGDYTCCDLV VKIKECKKSE DPTTPEPSPA
APSPAPRDGA GSPGLSEDCS ESQQTPARSL TLQEALEVRK PQFISRSQER LKKLEHMVQQ
RKAQRKEDLR QKQSLLPIRT SKKQFTIPHP LSDNLFKPKE RCISEKEMHM RSKRIYDNLP
EVKKKKEEQR KRVILQSNRL RAEVFKKQLL DQLLQRNAV*

speed

0.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999920394 (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)

chr10:128193368C>TN/A show variant in all transcripts IGV

HGNC symbol

C10orf90

Ensembl transcript ID

ENST00000454341

Genbank transcript ID

N/A

UniProt peptide

Q96M02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.401G>A
cDNA.522G>A
g.165712G>A

AA changes

R134H Score: 29 explain score(s)

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

134

frameshift

known variant

Reference ID: rs11245008

database	homozygous (T/T)	heterozygous	allele carriers
1000G	169	739	908
ExAC	1676	13792	15468

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.314	0
	-2.83	0
(flanking)	0.026	0

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 gained	165712	0.67	mu: CCCCCACAGAGGGTT	CCCA\|caga

distance from splice site

287

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

134

mutated

not conserved

134

Ptroglodytes

all identical

ENSPTRG00000003047

134

Mmulatta

all identical

ENSMMUG00000009663

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030994

132

Ggallus

all identical

ENSGALG00000009741

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
116	224	REGION	Required for interaction with HDAC1 (By similarity).	lost
571	699	REGION	ALMS motif (By similarity).	might get lost (downstream of altered splice site)
654	654	CONFLICT	R -> G (in Ref. 3; BAB71512).	might get lost (downstream of altered splice site)
663	666	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1809 / 1809

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

603 / 603

position of stopcodon in wt / mu cDNA

1930 / 1930

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

122 / 122

chromosome

strand

-1

last intron/exon boundary

1892

theoretical NMD boundary in CDS

1720

length of CDS

1809

coding sequence (CDS) position

401

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

522

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

165712

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

128193368

original gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered gDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

original cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA

altered cDNA sequence snippet

GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA

wildtype AA sequence

MLKLSGEGLR DSYHSRRDQI ALKNLQSDVT EAKSDFTKET LASQNTKMIS SIVISQMIDE
NKSRENRASL PLPCAIAQSR AHHAKQSLAN RSGVNIHRAF ALLPGRLGIP APSDERGPEA
ELPPKEERPC GGPRRGFASI TITARRVGPP ARALVWGTAG DSLCPKCRAE DTLFQAPPAL
ANGAHPGRHQ RSFACTEFSR NSSVVRLKVP EAHTGLCERR KYWVTHADDK ETSFSPDTPL
SGKSPLVFSS CVHLRVSQQC PDSIYYVDKS LSVPIEPPQI ASPKMHRSVL SLNLNCSSHR
LTADGVDGLV NREPISEALK QELLEGDQDL VGQRWNPGLQ ESHLKETPSL RRVHLGTGAC
PWSGSFPLEN TELANVGANQ VTVRKGEKDH TTHCHASDHA NQLSIHIPGW SYRAGDYTCC
DLVVKIKECK KSEDPTTPEP SPAAPSPAPR DGAGSPGLSE DCSESQQTPA RSLTLQEALE
VRKPQFISRS QERLKKLEHM VQQRKAQRKE DLRQKQSLLP IRTSKKQFTI PHPLSDNLFK
PKERCISEKE MHMRSKRIYD NLPEVKKKKE EQRKRVILQS NRLRAEVFKK QLLDQLLQRN
AV*

mutated AA sequence

MLKLSGEGLR DSYHSRRDQI ALKNLQSDVT EAKSDFTKET LASQNTKMIS SIVISQMIDE
NKSRENRASL PLPCAIAQSR AHHAKQSLAN RSGVNIHRAF ALLPGRLGIP APSDERGPEA
ELPPKEERPC GGPHRGFASI TITARRVGPP ARALVWGTAG DSLCPKCRAE DTLFQAPPAL
ANGAHPGRHQ RSFACTEFSR NSSVVRLKVP EAHTGLCERR KYWVTHADDK ETSFSPDTPL
SGKSPLVFSS CVHLRVSQQC PDSIYYVDKS LSVPIEPPQI ASPKMHRSVL SLNLNCSSHR
LTADGVDGLV NREPISEALK QELLEGDQDL VGQRWNPGLQ ESHLKETPSL RRVHLGTGAC
PWSGSFPLEN TELANVGANQ VTVRKGEKDH TTHCHASDHA NQLSIHIPGW SYRAGDYTCC
DLVVKIKECK KSEDPTTPEP SPAAPSPAPR DGAGSPGLSE DCSESQQTPA RSLTLQEALE
VRKPQFISRS QERLKKLEHM VQQRKAQRKE DLRQKQSLLP IRTSKKQFTI PHPLSDNLFK
PKERCISEKE MHMRSKRIYD NLPEVKKKKE EQRKRVILQS NRLRAEVFKK QLLDQLLQRN
AV*

speed

0.11 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

Problems