Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99455249114191 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:89293271A>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF778
Ensembl transcript ID ENST00000433976
Genbank transcript ID NM_182531
UniProt peptide Q96MU6
alteration type single base exchange
alteration region CDS
DNA changes c.491A>C
cDNA.823A>C
g.9154A>C
AA changes K164T Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 164
frameshift no
known variant Reference ID: rs28417933
databasehomozygous (C/C)heterozygousallele carriers
1000G10189391957
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4140.967
2.5230.997
(flanking)1.1120.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased9156wt: 0.9076 / mu: 0.9447 (marginal change - not scored)wt: TCAAAATTGGAGAGC
mu: TCACAATTGGAGAGC		 AAAA|ttgg
distance from splice site 170
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      164DFFIPCQKTLFKIGEQFSVLGQCG
mutated  not conserved    164DFFIPCQKTLFTIGEQFSVLGQC
Ptroglodytes  all identical  ENSPTRG00000008475  122FKIGEQFSVLGQC
Mmulatta  no homologue    
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 
164164CONFLICTK -> T (in Ref. 1; BAB71183).lost
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 2522 / 2522
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 333 / 333
chromosome 16
strand 1
last intron/exon boundary 654
theoretical NMD boundary in CDS 271
length of CDS 2190
coding sequence (CDS) position 491
cDNA position
(for ins/del: last normal base / first normal base)		 823
gDNA position
(for ins/del: last normal base / first normal base)		 9154
chromosomal position
(for ins/del: last normal base / first normal base)		 89293271
original gDNA sequence snippet ATGCCAGAAAACCTTGTTCAAAATTGGAGAGCAGTTTTCCG
altered gDNA sequence snippet ATGCCAGAAAACCTTGTTCACAATTGGAGAGCAGTTTTCCG
original cDNA sequence snippet ATGCCAGAAAACCTTGTTCAAAATTGGAGAGCAGTTTTCCG
altered cDNA sequence snippet ATGCCAGAAAACCTTGTTCACAATTGGAGAGCAGTTTTCCG
wildtype AA sequence MAAPDLAHGG HVSRDSVCLH EEQTQAAGMV AGWLINCYQD AVTFDDVAVD FTQEEWTLLD
PSQRDLYRDV MLENYENLAS VEWRLKTKGP ALRQDRSWFR ASNETQTARS HNGGQLCDRT
QCGEAFSEHS GLSTHVRTQN TGDSCVSNHY ERDFFIPCQK TLFKIGEQFS VLGQCGKAFS
STPNVVSQQA CTRDRSLDYS SCGEVFLNQS YLQARAGSHN GEETWKWKPC GKALTHSMGC
ATPVEMHAVR NPHVCRECGK AFRYTAYLTG RVQVHPGEKP CELEECGKAS PVSSSLTQHV
RIHAAEKPCE CKECGKAFTG LSGLSKHVQT DPGQKPYECK DCGKACGGFY LLNEHGKTHT
REKPFACVVC GKYFRNSSCL NNHVRIHTGI KPYTCSYCGK AFTVRCGLTR HVRTHTGEKP
YTCKDCGKAF CTSSGLTEHV RTHTGEKPYE CKDCGKSFTV SSSLTEHARI HTGEKPYECK
QCGKAFTGRS GLTKHMRTHT GEKPYECKDC GKAYNRVYLL NEHVKTHTEE KPFICTVCRK
SFRNSSCLNK HIQIHTGIKP YECKDCGKTF TVSSSLTEHI RTHTGEKPYE CKVCGKAFTT
SSHLIVHIRT HTGEKPYICK ECGKAFASSS HLIEHRRTHT GEKPYICNEC GKAFRASSHL
HKHGRIHTGQ KPYKCKECGK AYNRFYLLKE HLKTYTEEQV FVCKDCGKSF KNSSCLNHHT
QIHTDEKPF*
mutated AA sequence MAAPDLAHGG HVSRDSVCLH EEQTQAAGMV AGWLINCYQD AVTFDDVAVD FTQEEWTLLD
PSQRDLYRDV MLENYENLAS VEWRLKTKGP ALRQDRSWFR ASNETQTARS HNGGQLCDRT
QCGEAFSEHS GLSTHVRTQN TGDSCVSNHY ERDFFIPCQK TLFTIGEQFS VLGQCGKAFS
STPNVVSQQA CTRDRSLDYS SCGEVFLNQS YLQARAGSHN GEETWKWKPC GKALTHSMGC
ATPVEMHAVR NPHVCRECGK AFRYTAYLTG RVQVHPGEKP CELEECGKAS PVSSSLTQHV
RIHAAEKPCE CKECGKAFTG LSGLSKHVQT DPGQKPYECK DCGKACGGFY LLNEHGKTHT
REKPFACVVC GKYFRNSSCL NNHVRIHTGI KPYTCSYCGK AFTVRCGLTR HVRTHTGEKP
YTCKDCGKAF CTSSGLTEHV RTHTGEKPYE CKDCGKSFTV SSSLTEHARI HTGEKPYECK
QCGKAFTGRS GLTKHMRTHT GEKPYECKDC GKAYNRVYLL NEHVKTHTEE KPFICTVCRK
SFRNSSCLNK HIQIHTGIKP YECKDCGKTF TVSSSLTEHI RTHTGEKPYE CKVCGKAFTT
SSHLIVHIRT HTGEKPYICK ECGKAFASSS HLIEHRRTHT GEKPYICNEC GKAFRASSHL
HKHGRIHTGQ KPYKCKECGK AYNRFYLLKE HLKTYTEEQV FVCKDCGKSF KNSSCLNHHT
QIHTDEKPF*
speed 1.13 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