Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 6.7944186675543e-21 (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) chr19:44890801T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF112
Ensembl transcript ID ENST00000253426
Genbank transcript ID N/A
UniProt peptide Q9UJU3
alteration type single base exchange
alteration region intron
DNA changes g.14974A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs12610859
databasehomozygous (C/C)heterozygousallele carriers
1000G54710741621
ExAC18580-439314187
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.3671
2.450.983
(flanking)-3.1810.081
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14973wt: 0.64 / mu: 0.97wt: CACACAAGAGAGAGG
mu: CACACAGGAGAGAGG		 CACA|agag
Donor marginally increased14971wt: 0.9576 / mu: 0.9601 (marginal change - not scored)wt: TCCACACAAGAGAGA
mu: TCCACACAGGAGAGA		 CACA|caag
distance from splice site 10563
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
35CONFLICTKFQ -> VSK (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
879DOMAINKRAB.might get lost (downstream of altered splice site)
113113CONFLICTA -> T (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
143143CONFLICTV -> A (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
222222CONFLICTK -> E (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
258280ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
261261CONFLICTT -> S (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
392392CONFLICTN -> S (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
443465ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
471493ZN_FINGC2H2-type 3; degenerate.might get lost (downstream of altered splice site)
497519ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
525547ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
553575ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
581603ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
609631ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
637659ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
665687ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
693715ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
721743ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
749771ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
777799ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
805827ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
813813CONFLICTG -> A (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
833855ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
861883ZN_FINGC2H2-type 17.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 85 / 85
chromosome 19
strand -1
last intron/exon boundary 320
theoretical NMD boundary in CDS 185
length of CDS 2739
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)		 14974
chromosomal position
(for ins/del: last normal base / first normal base)		 44890801
original gDNA sequence snippet TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT
altered gDNA sequence snippet TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MIKFQMVTFK DVAVVFTEEE LGLLDSVQRK LYRDVMLENF RNLLLVAHQP FKPDLISQLE
REEKLLMVET ETPRDGCSGR KNQQKMESIQ EVTVSYFSPK ELSSRQTWQQ SAGGLIRCQD
FLKVFQGKNS QLQEQGNSLG QVWAGIPVQI SEDKNYIFTH IGNGSNYIKS QGYPSWRAHH
SWRKMYLKES HNYQCRCQQI SMKNHFCKCD SVSWLSHHND KLEVHRKENY SCHDCGEDIM
KVSLLNQESI QTEEKPYPCT GYRKAFSNDS SSEVHQQFHL EGKPYTYSSC GKGCNYSSLL
HIHQNIERED DIENSHLKSY QRVHTEEKPC KCGEYGENFN HCSPLNTYEL IHTGEMSYRH
NIYEKAFSHS LDLNSIFRVH TRDEPHEYEE NENVFNQSSC LQVHQKIHTE EKLYTDIEYG
KSFICSSNLD IQHRVHMEEN SYNSEECGNG FSLASHFQDL QIVHTKEQPY KRYVCSNSFS
HNLYLQGHPK IHIGEKPRKE HGNGFNWSSK LKDHQRVHTG QKPYKCNICG KGFNHRSVLN
VHQRVHTGEK PYKCEECDKG FSRSSYLQAH QRVHTGEKPY KCEECGKGFS RNSYLQGHQR
VHTGEKPYKC EECGKGFSRS SHLQGHQRVH TGEKPFKCEE CGKGFSWSFN LQIHQRVHTG
EKPYKCEECG KGFSKASTLL AHQRVHTGEK PYQCDECGKS FSQRSYLQSH QSVHSGERPY
ICEVCGKGFS QRAYLQGHQR VHTRVKPYKC EMCGKGFSQS SRLEAHRRVH TGGKPYKCEV
CTKGFSESSR LQAHQRVHVE GRPYKCEQCG KGFSGYSSLQ AHHRVHTGEK PYKCEVCGKG
FSQRSNLQAH QRVHTGEKPY KCDACGKGFR WSSGLLIHQR VHSSDKFYKS EDYGKDYPSS
ENLHRNEDSV LF*
mutated AA sequence N/A
speed 0.42 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