mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999915691559 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:74125888A>GN/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

intron

DNA changes

g.36112T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs311685

database	homozygous (G/G)	heterozygous	allele carriers
1000G	646	1164	1810
ExAC	16565	-363	16202

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.147	0.021
	0.002	0.014
(flanking)	0.036	0.021

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 marginally increased	36106	wt: 0.9969 / mu: 0.9975 (marginal change - not scored)	wt: CCATTTTTCTTTCCATTTCCCTTTTCTGTTGATGTGCCTTA mu: CCATTTTTCTTTCCATTTCCCTTTTCCGTTGATGTGCCTTA	tccc\|TTTT
Acc marginally increased	36105	wt: 0.9819 / mu: 0.9825 (marginal change - not scored)	wt: TCCATTTTTCTTTCCATTTCCCTTTTCTGTTGATGTGCCTT mu: TCCATTTTTCTTTCCATTTCCCTTTTCCGTTGATGTGCCTT	ttcc\|CTTT
Acc marginally increased	36103	wt: 0.9761 / mu: 0.9822 (marginal change - not scored)	wt: TTTCCATTTTTCTTTCCATTTCCCTTTTCTGTTGATGTGCC mu: TTTCCATTTTTCTTTCCATTTCCCTTTTCCGTTGATGTGCC	attt\|CCCT
Acc marginally increased	36109	wt: 0.9274 / mu: 0.9437 (marginal change - not scored)	wt: TTTTTCTTTCCATTTCCCTTTTCTGTTGATGTGCCTTAAAC mu: TTTTTCTTTCCATTTCCCTTTTCCGTTGATGTGCCTTAAAC	cttt\|TCTG
Acc marginally increased	36112	wt: 0.9984 / mu: 0.9985 (marginal change - not scored)	wt: TTCTTTCCATTTCCCTTTTCTGTTGATGTGCCTTAAACCTC mu: TTCTTTCCATTTCCCTTTTCCGTTGATGTGCCTTAAACCTC	ttct\|GTTG
Acc marginally increased	36113	wt: 0.9857 / mu: 0.9864 (marginal change - not scored)	wt: TCTTTCCATTTCCCTTTTCTGTTGATGTGCCTTAAACCTCT mu: TCTTTCCATTTCCCTTTTCCGTTGATGTGCCTTAAACCTCT	tctg\|TTGA
Acc marginally increased	36116	wt: 0.9834 / mu: 0.9853 (marginal change - not scored)	wt: TTCCATTTCCCTTTTCTGTTGATGTGCCTTAAACCTCTCAG mu: TTCCATTTCCCTTTTCCGTTGATGTGCCTTAAACCTCTCAG	gttg\|ATGT
Acc marginally increased	36107	wt: 0.9799 / mu: 0.9871 (marginal change - not scored)	wt: CATTTTTCTTTCCATTTCCCTTTTCTGTTGATGTGCCTTAA mu: CATTTTTCTTTCCATTTCCCTTTTCCGTTGATGTGCCTTAA	ccct\|TTTC
Acc marginally increased	36104	wt: 0.8524 / mu: 0.9256 (marginal change - not scored)	wt: TTCCATTTTTCTTTCCATTTCCCTTTTCTGTTGATGTGCCT mu: TTCCATTTTTCTTTCCATTTCCCTTTTCCGTTGATGTGCCT	tttc\|CCTT
Donor increased	36113	wt: 0.67 / mu: 0.82	wt: TTTCTGTTGATGTGC mu: TTTCCGTTGATGTGC	TCTG\|ttga

distance from splice site

2144

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

no protein features affected

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

79 / 79

chromosome

strand

-1

last intron/exon boundary

1411

theoretical NMD boundary in CDS

1282

length of CDS

1344

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)

36112

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

74125888

original gDNA sequence snippet

TTCTTTCCATTTCCCTTTTCTGTTGATGTGCCTTAAACCTC

altered gDNA sequence snippet

TTCTTTCCATTTCCCTTTTCCGTTGATGTGCCTTAAACCTC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

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

N/A

speed

0.79 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