mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999924054889 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

ENST00000359709

Genbank transcript ID

NM_001206567

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

intron

DNA changes

g.16720G>C

AA changes

N/A

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

N/A

frameshift

N/A

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

700

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	150	COMPBIAS	Lys-rich.	might get lost (downstream of altered splice site)
128	128	MUTAGEN	K->Q: Predominant cytoplasmic, reduces nuclear localization (mimics non- acetylated state).	might get lost (downstream of altered splice site)
128	128	MUTAGEN	K->R: Minor effect on nuclear localization (mimics acetylated state).	might get lost (downstream of altered splice site)
128	131	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
128	131	MUTAGEN	Missing: Predominant nuclear, some cytoplasmic localization.	might get lost (downstream of altered splice site)
134	136	MUTAGEN	Missing: Mostly nuclear, minor cytoplasmic localization.	might get lost (downstream of altered splice site)
134	136	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
140	143	MUTAGEN	Missing: Mostly nuclear, minor cytoplasmic localization.	might get lost (downstream of altered splice site)
140	143	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
153	153	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
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

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

173 / 173

chromosome

strand

last intron/exon boundary

2282

theoretical NMD boundary in CDS

2059

length of CDS

2190

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)

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQNPK TVAKCQVTPR RNVLQKRPVI VKVLSTTKPF EYETPEMEKK IMFHATVATQ
TQFFHVKVLN TSLKEKFNGK KIIIISDYLE YDSLLEVNEE STVSEAGPNQ TFEVPNKIIN
RAKETLKIDI LHKQASGNIV YGVFMLHKKT VNQKTTIYEI QDDRGKMDVV GTGQCHNIPC
EEGDKLQLFC FRLRKKNQMS KLISEMHSFI QIKKKTNPRN NDPKSMKLPQ EQRQLPYPSE
ASTTFPESHL RTPQMPPTTP SSSFFTKKSE DTISKMNDFM RMQILKEGSH FPGPFMTSIG
PAESHPHTPQ MPPSTPSSSF LTTKSEDTIS 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

N/A

speed

0.81 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