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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000370318
Querying Taster for transcript #2: ENST00000370315
Querying Taster for transcript #3: ENST00000296913
MT speed 0 s - this script 3.330185 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CGAS	polymorphism_automatic	0.518833392251528	simple_aae				P261H	single base exchange	rs610913		show file
CGAS	polymorphism_automatic	0.518833392251528	simple_aae				P261H	single base exchange	rs610913		show file
CGAS	polymorphism_automatic	0.518833392251528	simple_aae				P261H	single base exchange	rs610913		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.481166607748472 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:74155346G>TN/A show variant in all transcripts IGV

HGNC symbol

CGAS

Ensembl transcript ID

ENST00000370318

Genbank transcript ID

N/A

UniProt peptide

Q8N884

alteration type

single base exchange

alteration region

CDS

DNA changes

c.782C>A
cDNA.860C>A
g.6654C>A

AA changes

P261H Score: 77 explain score(s)

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

261

frameshift

known variant

Reference ID: rs610913

database	homozygous (T/T)	heterozygous	allele carriers
1000G	699	1120	1819
ExAC	19653	-6539	13114

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.027	0.969
	1.836	0.997
(flanking)	1.94	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 marginally increased	6646	wt: 0.9962 / mu: 0.9972 (marginal change - not scored)	wt: CCGAAAGAAAATCCT mu: CCGAAAGAAAATCAT	GAAA\|gaaa
Donor marginally increased	6654	wt: 0.9382 / mu: 0.9841 (marginal change - not scored)	wt: AAATCCTCTGAGTCA mu: AAATCATCTGAGTCA	ATCC\|tctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

261

mutated

not conserved

261

Ptroglodytes

all identical

ENSPTRG00000018345

261

Mmulatta

all identical

ENSMMUG00000019606

261

Fcatus

no alignment

ENSFCAG00000010541

n/a

Mmusculus

all identical

ENSMUSG00000032344

247

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1344 / 1344

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

448 / 448

position of stopcodon in wt / mu cDNA

1422 / 1422

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

79 / 79

chromosome

strand

-1

last intron/exon boundary

1411

theoretical NMD boundary in CDS

1282

length of CDS

1344

coding sequence (CDS) position

782

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

860

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

6654

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

74155346

original gDNA sequence snippet

AAGAAATCCGAAAGAAAATCCTCTGAGTCAGTTTTTAGAAG

altered gDNA sequence snippet

AAGAAATCCGAAAGAAAATCATCTGAGTCAGTTTTTAGAAG

original cDNA sequence snippet

AAGAAATCCGAAAGAAAATCCTCTGAGTCAGTTTTTAGAAG

altered cDNA sequence snippet

AAGAAATCCGAAAGAAAATCATCTGAGTCAGTTTTTAGAAG

wildtype AA sequence

MQPWHGKAMQ RASEAGATAP KASARNARGA PMDPTESPAA PEAALPKAGK FGPARKSGSR
QKKSAPDTQE RPPVRATGAR AKKAPQRAQD TQPSDATSAP GAEGLEPPAA REPALSRAGS
CRQRGARCST KPRPPPGPWD VPSPGLPVSA PILVRRDAAP GASKLRAVLE KLKLSRDDIS
TAAGMVKGVV DHLLLRLKCD SAFRGVGLLN TGSYYEHVKI SAPNEFDVMF KLEVPRIQLE
EYSNTRAYYF VKFKRNPKEN PLSQFLEGEI LSASKMLSKF RKIIKEEIND IKDTDVIMKR
KRGGSPAVTL LISEKISVDI TLALESKSSW PASTQEGLRI QNWLSAKVRK QLRLKPFYLV
PKHAKEGNGF QEETWRLSFS HIEKEILNNH GKSKTCCENK EEKCCRKDCL KLMKYLLEQL
KERFKDKKHL DKFSSYHVKT AFFHRLY*

mutated AA sequence

MQPWHGKAMQ RASEAGATAP KASARNARGA PMDPTESPAA PEAALPKAGK FGPARKSGSR
QKKSAPDTQE RPPVRATGAR AKKAPQRAQD TQPSDATSAP GAEGLEPPAA REPALSRAGS
CRQRGARCST KPRPPPGPWD VPSPGLPVSA PILVRRDAAP GASKLRAVLE KLKLSRDDIS
TAAGMVKGVV DHLLLRLKCD SAFRGVGLLN TGSYYEHVKI SAPNEFDVMF KLEVPRIQLE
EYSNTRAYYF VKFKRNPKEN HLSQFLEGEI LSASKMLSKF RKIIKEEIND IKDTDVIMKR
KRGGSPAVTL LISEKISVDI TLALESKSSW PASTQEGLRI QNWLSAKVRK QLRLKPFYLV
PKHAKEGNGF QEETWRLSFS HIEKEILNNH GKSKTCCENK EEKCCRKDCL KLMKYLLEQL
KERFKDKKHL DKFSSYHVKT AFFHRLY*

speed

0.46 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: 0.481166607748472 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:74155346G>TN/A show variant in all transcripts IGV

HGNC symbol

CGAS

Ensembl transcript ID

ENST00000370315

Genbank transcript ID

NM_138441

UniProt peptide

Q8N884

alteration type

single base exchange

alteration region

CDS

DNA changes

c.782C>A
cDNA.877C>A
g.6654C>A

AA changes

P261H Score: 77 explain score(s)

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

261

frameshift

known variant

Reference ID: rs610913

database	homozygous (T/T)	heterozygous	allele carriers
1000G	699	1120	1819
ExAC	19653	-6539	13114

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.027	0.969
	1.836	0.997
(flanking)	1.94	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 marginally increased	6646	wt: 0.9962 / mu: 0.9972 (marginal change - not scored)	wt: CCGAAAGAAAATCCT mu: CCGAAAGAAAATCAT	GAAA\|gaaa
Donor marginally increased	6654	wt: 0.9382 / mu: 0.9841 (marginal change - not scored)	wt: AAATCCTCTGAGTCA mu: AAATCATCTGAGTCA	ATCC\|tctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

261

mutated

not conserved

261

Ptroglodytes

all identical

ENSPTRG00000018345

261

Mmulatta

all identical

ENSMMUG00000019606

261

Fcatus

no alignment

ENSFCAG00000010541

n/a

Mmusculus

all identical

ENSMUSG00000032344

247

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1569 / 1569

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

523 / 523

position of stopcodon in wt / mu cDNA

1664 / 1664

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

96 / 96

chromosome

strand

-1

last intron/exon boundary

1313

theoretical NMD boundary in CDS

1167

length of CDS

1569

coding sequence (CDS) position

782

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

877

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

6654

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

74155346

original gDNA sequence snippet

AAGAAATCCGAAAGAAAATCCTCTGAGTCAGTTTTTAGAAG

altered gDNA sequence snippet

AAGAAATCCGAAAGAAAATCATCTGAGTCAGTTTTTAGAAG

original cDNA sequence snippet

AAGAAATCCGAAAGAAAATCCTCTGAGTCAGTTTTTAGAAG

altered cDNA sequence snippet

AAGAAATCCGAAAGAAAATCATCTGAGTCAGTTTTTAGAAG

wildtype AA sequence

mutated AA sequence

MQPWHGKAMQ RASEAGATAP KASARNARGA PMDPTESPAA PEAALPKAGK FGPARKSGSR
QKKSAPDTQE RPPVRATGAR AKKAPQRAQD TQPSDATSAP GAEGLEPPAA REPALSRAGS
CRQRGARCST KPRPPPGPWD VPSPGLPVSA PILVRRDAAP GASKLRAVLE KLKLSRDDIS
TAAGMVKGVV DHLLLRLKCD SAFRGVGLLN TGSYYEHVKI SAPNEFDVMF KLEVPRIQLE
EYSNTRAYYF VKFKRNPKEN HLSQFLEGEI LSASKMLSKF RKIIKEEIND IKDTDVIMKR
KRGGSPAVTL LISEKISVDI TLALESKSSW PASTQEGLRI QNWLSAKVRK QLRLKPFYLV
PKHAKEGNGF QEETWRLSFS HIEKEILNNH GKSKTCCENK EEKCCRKDCL KLMKYLLEQL
KERFKDKKHL DKFSSYHVKT AFFHVCTQNP QDSQWDRKDL GLCFDNCVTY FLQCLRTEKL
ENYFIPEFNL FSSNLIDKRS KEFLTKQIEY ERNNEFPVFD EF*

speed

0.89 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.481166607748472 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:74155346G>TN/A show variant in all transcripts IGV

HGNC symbol

CGAS

Ensembl transcript ID

ENST00000296913

Genbank transcript ID

N/A

UniProt peptide

Q8N884

alteration type

single base exchange

alteration region

CDS

DNA changes

c.782C>A
cDNA.877C>A
g.6654C>A

AA changes

P261H Score: 77 explain score(s)

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

261

frameshift

known variant

Reference ID: rs610913

database	homozygous (T/T)	heterozygous	allele carriers
1000G	699	1120	1819
ExAC	19653	-6539	13114

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.027	0.969
	1.836	0.997
(flanking)	1.94	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 marginally increased	6646	wt: 0.9962 / mu: 0.9972 (marginal change - not scored)	wt: CCGAAAGAAAATCCT mu: CCGAAAGAAAATCAT	GAAA\|gaaa
Donor marginally increased	6654	wt: 0.9382 / mu: 0.9841 (marginal change - not scored)	wt: AAATCCTCTGAGTCA mu: AAATCATCTGAGTCA	ATCC\|tctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

261

mutated

not conserved

261

Ptroglodytes

all identical

ENSPTRG00000018345

261

Mmulatta

all identical

ENSMMUG00000019606

261

Fcatus

no alignment

ENSFCAG00000010541

n/a

Mmusculus

all identical

ENSMUSG00000032344

247

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1518 / 1518

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

506 / 506

position of stopcodon in wt / mu cDNA

1613 / 1613

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

96 / 96

chromosome

strand

-1

last intron/exon boundary

1313

theoretical NMD boundary in CDS

1167

length of CDS

1518

coding sequence (CDS) position

782

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

877

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

6654

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

74155346

original gDNA sequence snippet

AAGAAATCCGAAAGAAAATCCTCTGAGTCAGTTTTTAGAAG

altered gDNA sequence snippet

AAGAAATCCGAAAGAAAATCATCTGAGTCAGTTTTTAGAAG

original cDNA sequence snippet

AAGAAATCCGAAAGAAAATCCTCTGAGTCAGTTTTTAGAAG

altered cDNA sequence snippet

AAGAAATCCGAAAGAAAATCATCTGAGTCAGTTTTTAGAAG

wildtype AA sequence

mutated AA sequence

MQPWHGKAMQ RASEAGATAP KASARNARGA PMDPTESPAA PEAALPKAGK FGPARKSGSR
QKKSAPDTQE RPPVRATGAR AKKAPQRAQD TQPSDATSAP GAEGLEPPAA REPALSRAGS
CRQRGARCST KPRPPPGPWD VPSPGLPVSA PILVRRDAAP GASKLRAVLE KLKLSRDDIS
TAAGMVKGVV DHLLLRLKCD SAFRGVGLLN TGSYYEHVKI SAPNEFDVMF KLEVPRIQLE
EYSNTRAYYF VKFKRNPKEN HLSQFLEGEI LSASKMLSKF RKIIKEEIND IKDTDVIMKR
KRGGSPAVTL LISEKISVDI TLALESKSSW PASTQEGLRI QNWLSAKVRK QLRLKPFYLV
PKHAKEGNGF QEETWRLSFS HIEKEILNNH GKSKTCCENK EEKCCRFKDK KHLDKFSSYH
VKTAFFHVCT QNPQDSQWDR KDLGLCFDNC VTYFLQCLRT EKLENYFIPE FNLFSSNLID
KRSKEFLTKQ IEYERNNEFP VFDEF*

speed

0.46 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems