Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999992 (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) chr19:53209554G>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF611
Ensembl transcript ID ENST00000453741
Genbank transcript ID NM_001161501
UniProt peptide Q8N823
alteration type single base exchange
alteration region CDS
DNA changes c.547C>A
cDNA.892C>A
g.28754C>A
AA changes P183T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 183
frameshift no
known variant Reference ID: rs4085565
databasehomozygous (T/T)heterozygousallele carriers
1000G56010771637
ExAC104821180322285
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3840.011
-0.2430.002
(flanking)-0.2320.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28749wt: 0.90 / mu: 0.99wt: ACACCAGATACCCCA
mu: ACACCAGATAACCCA		 ACCA|gata
Donor marginally increased28758wt: 0.3857 / mu: 0.4112 (marginal change - not scored)wt: ACCCCATTTAGGAGA
mu: AACCCATTTAGGAGA		 CCCA|ttta
distance from splice site 564
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      183NCSSLLRKHQIPHLGDKQYKCDVC
mutated  not conserved    183QITHLGDKQYKCDV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000017044  183QTIHLGDKIYKRDV
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 
231253ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
343364ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
370392ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
379379CONFLICTF -> S (in Ref. 1; BAC05052).might get lost (downstream of altered splice site)
398420ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
426448ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
454476ZN_FINGC2H2-type 9; degenerate.might get lost (downstream of altered splice site)
482504ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
510532ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
538560ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
566588ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
594616ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
622644ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
650672ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
678700ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1911 / 1911
position (AA) of stopcodon in wt / mu AA sequence 637 / 637
position of stopcodon in wt / mu cDNA 2256 / 2256
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 346 / 346
chromosome 19
strand -1
last intron/exon boundary 329
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1911
coding sequence (CDS) position 547
cDNA position
(for ins/del: last normal base / first normal base)		 892
gDNA position
(for ins/del: last normal base / first normal base)		 28754
chromosomal position
(for ins/del: last normal base / first normal base)		 53209554
original gDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered gDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
original cDNA sequence snippet TCTTAAGGAAACACCAGATACCCCATTTAGGAGACAAACAA
altered cDNA sequence snippet TCTTAAGGAAACACCAGATAACCCATTTAGGAGACAAACAA
wildtype AA sequence MMKEVLSTGQ GNTEVIHTGT LQRHESHHIG DFCFQEIEKE IHDIEFQCQE DERNGLEAPM
TKIKKLTGST DQHDHRHAGN KPIKDQLGSS FYSHLPELHI FQIKGEIGNQ LEKSTNDAPS
VSTFQRISCR PQTQISNNYG NNPLNSSLLP QKQEVHMREK SFQCNKSGKA FNCSSLLRKH
QIPHLGDKQY KCDVCGKLFN HEQYLACHDR CHTVEKPYKC KECGKTFSQE SSLTCHRRLH
TGVKRYNCNE CGKIFGQNSA LLIDKAIDTG ENPYKCNECD KAFNQQSQLS HHRIHTGEKP
YKCEECDKVF SRKSTIETHK RIHTGEKPYR CKVCDTAFTW HSQLARHRRI HTAKKTYKCN
ECGKTFSHKS SLVCHHRLHG GEKSYKCKVC DKAFVWSSQL AKHTRIDCGE KPYKCNECGK
TFGQNSDLLI HKSIHTGEQP YKCDECEKVF SRKSSLETHK IGHTGEKPYK CKVCDKAFAC
HSYLAKHTRI HSGEKPYKCN ECSKTFSHRS YLVCHHRVHS GEKPYKCNEC SKTFSRRSSL
HCHRRLHSGE KPYKCNECGN TFRHCSSLIY HRRLHTGEKS YKCTICDKAF VRNSLLSRHT
RIHTAEKPYK CNECGKAFNQ QSHLSRHHRI HTGEKP*
mutated AA sequence MMKEVLSTGQ GNTEVIHTGT LQRHESHHIG DFCFQEIEKE IHDIEFQCQE DERNGLEAPM
TKIKKLTGST DQHDHRHAGN KPIKDQLGSS FYSHLPELHI FQIKGEIGNQ LEKSTNDAPS
VSTFQRISCR PQTQISNNYG NNPLNSSLLP QKQEVHMREK SFQCNKSGKA FNCSSLLRKH
QITHLGDKQY KCDVCGKLFN HEQYLACHDR CHTVEKPYKC KECGKTFSQE SSLTCHRRLH
TGVKRYNCNE CGKIFGQNSA LLIDKAIDTG ENPYKCNECD KAFNQQSQLS HHRIHTGEKP
YKCEECDKVF SRKSTIETHK RIHTGEKPYR CKVCDTAFTW HSQLARHRRI HTAKKTYKCN
ECGKTFSHKS SLVCHHRLHG GEKSYKCKVC DKAFVWSSQL AKHTRIDCGE KPYKCNECGK
TFGQNSDLLI HKSIHTGEQP YKCDECEKVF SRKSSLETHK IGHTGEKPYK CKVCDKAFAC
HSYLAKHTRI HSGEKPYKCN ECSKTFSHRS YLVCHHRVHS GEKPYKCNEC SKTFSRRSSL
HCHRRLHSGE KPYKCNECGN TFRHCSSLIY HRRLHTGEKS YKCTICDKAF VRNSLLSRHT
RIHTAEKPYK CNECGKAFNQ QSHLSRHHRI HTGEKP*
speed 0.94 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