Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.997038802151684 (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
 hyperlink
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 ENST00000306502
Genbank transcript ID N/A
UniProt peptide Q96MU6
alteration type single base exchange
alteration region CDS
DNA changes c.365A>C
cDNA.535A>C
g.9154A>C
AA changes K122T Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 122
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      122DFFIPCQKTLFKIGEQFSVLGQCG
mutated  not conserved    122FTIGEQFSVLGQC
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 
115140ZN_FINGC2H2-type 1; degenerate.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2064 / 2064
position (AA) of stopcodon in wt / mu AA sequence 688 / 688
position of stopcodon in wt / mu cDNA 2234 / 2234
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 171 / 171
chromosome 16
strand 1
last intron/exon boundary 366
theoretical NMD boundary in CDS 145
length of CDS 2064
coding sequence (CDS) position 365
cDNA position
(for ins/del: last normal base / first normal base)		 535
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 MLENYENLAS VGHHLFQPSV IYWLEQEEEL RAGRRAVLQE WRLKTKGPAL RQDRSWFRAS
NETQTARSHN GGQLCDRTQC GEAFSEHSGL STHVRTQNTG DSCVSNHYER DFFIPCQKTL
FKIGEQFSVL GQCGKAFSST PNVVSQQACT RDRSLDYSSC GEVFLNQSYL QARAGSHNGE
ETWKWKPCGK ALTHSMGCAT PVEMHAVRNP HVCRECGKAF RYTAYLTGRV QVHPGEKPCE
LEECGKASPV SSSLTQHVRI HAAEKPCECK ECGKAFTGLS GLSKHVQTDP GQKPYECKDC
GKACGGFYLL NEHGKTHTRE KPFACVVCGK YFRNSSCLNN HVRIHTGIKP YTCSYCGKAF
TVRCGLTRHV RTHTGEKPYT CKDCGKAFCT SSGLTEHVRT HTGEKPYECK DCGKSFTVSS
SLTEHARIHT GEKPYECKQC GKAFTGRSGL TKHMRTHTGE KPYECKDCGK AYNRVYLLNE
HVKTHTEEKP FICTVCRKSF RNSSCLNKHI QIHTGIKPYE CKDCGKTFTV SSSLTEHIRT
HTGEKPYECK VCGKAFTTSS HLIVHIRTHT GEKPYICKEC GKAFASSSHL IEHRRTHTGE
KPYICNECGK AFRASSHLHK HGRIHTGQKP YKCKECGKAY NRFYLLKEHL KTYTEEQVFV
CKDCGKSFKN SSCLNHHTQI HTDEKPF*
mutated AA sequence MLENYENLAS VGHHLFQPSV IYWLEQEEEL RAGRRAVLQE WRLKTKGPAL RQDRSWFRAS
NETQTARSHN GGQLCDRTQC GEAFSEHSGL STHVRTQNTG DSCVSNHYER DFFIPCQKTL
FTIGEQFSVL GQCGKAFSST PNVVSQQACT RDRSLDYSSC GEVFLNQSYL QARAGSHNGE
ETWKWKPCGK ALTHSMGCAT PVEMHAVRNP HVCRECGKAF RYTAYLTGRV QVHPGEKPCE
LEECGKASPV SSSLTQHVRI HAAEKPCECK ECGKAFTGLS GLSKHVQTDP GQKPYECKDC
GKACGGFYLL NEHGKTHTRE KPFACVVCGK YFRNSSCLNN HVRIHTGIKP YTCSYCGKAF
TVRCGLTRHV RTHTGEKPYT CKDCGKAFCT SSGLTEHVRT HTGEKPYECK DCGKSFTVSS
SLTEHARIHT GEKPYECKQC GKAFTGRSGL TKHMRTHTGE KPYECKDCGK AYNRVYLLNE
HVKTHTEEKP FICTVCRKSF RNSSCLNKHI QIHTGIKPYE CKDCGKTFTV SSSLTEHIRT
HTGEKPYECK VCGKAFTTSS HLIVHIRTHT GEKPYICKEC GKAFASSSHL IEHRRTHTGE
KPYICNECGK AFRASSHLHK HGRIHTGQKP YKCKECGKAY NRFYLLKEHL KTYTEEQVFV
CKDCGKSFKN SSCLNHHTQI HTDEKPF*
speed 0.97 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