Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999837 (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) chr1:159002389T>AN/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 CDS
DNA changes c.1069T>A
cDNA.1241T>A
g.32632T>A
AA changes Y357N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 357
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      357MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    357MKLPQEQRQLPNPSE
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
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)featuredetails 
189389DOMAINHIN-200 1.lost
192393REGIONInteraction with TP53 C-terminus.lost
361372STRANDmight get lost (downstream of altered splice site)
375379STRANDmight get lost (downstream of altered splice site)
385388STRANDmight get lost (downstream of altered splice site)
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->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)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->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)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->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)
670670MUTAGENS->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)
674674MUTAGENK->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)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->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)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->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)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->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)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.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 2362 / 2362
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 1
strand 1
last intron/exon boundary 2282
theoretical NMD boundary in CDS 2059
length of CDS 2190
coding sequence (CDS) position 1069
cDNA position
(for ins/del: last normal base / first normal base)		 1241
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
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 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 EQRQLPNPSE
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*
speed 1.12 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