mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000368132

Genbank transcript ID

N/A

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

CDS

DNA changes

c.536G>C
cDNA.800G>C
g.16720G>C

AA changes

S179T Score: 58 explain score(s)

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

179

frameshift

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

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	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all conserved

ENSPTRG00000001518

179

Mmulatta

all conserved

ENSMMUG00000004490

179

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2190 / 2190

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

730 / 730

position of stopcodon in wt / mu cDNA

2454 / 2454

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

265 / 265

chromosome

strand

last intron/exon boundary

2374

theoretical NMD boundary in CDS

2059

length of CDS

2190

coding sequence (CDS) position

536

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

800

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

16720

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

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGAACCCGA

altered cDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGAACCCGA

wildtype AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*

mutated AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNTS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*

speed

1.17 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