Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999796 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:56098733T>CN/A show variant in all transcripts   IGV
HGNC symbol CTCFL
Ensembl transcript ID ENST00000371196
Genbank transcript ID NM_001269040
UniProt peptide Q8NI51
alteration type single base exchange
alteration region CDS
DNA changes c.529A>G
cDNA.646A>G
g.1976A>G
AA changes T177A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 177
frameshift no
known variant Reference ID: rs6025606
databasehomozygous (C/C)heterozygousallele carriers
1000G14388752313
ExAC26916-210655851
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7230.003
-1.5030
(flanking)0.2010
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      177DSKLAVSLAETTGLIKLEEEQEKN
mutated  not conserved    177DSKLAVSLAETAGLI
Ptroglodytes  not conserved  ENSPTRG00000013663  177DSKLAVSLAETAGLI
Mmulatta  not conserved  ENSMMUG00000016802  177DSKLAVSLAESAGLI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000070495  172ESTAL-KKPEEDEK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0035769  69SKPMEEAEADLDHAEEAEEEEED
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1992 / 1992
position (AA) of stopcodon in wt / mu AA sequence 664 / 664
position of stopcodon in wt / mu cDNA 2109 / 2109
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 118 / 118
chromosome 20
strand -1
last intron/exon boundary 1958
theoretical NMD boundary in CDS 1790
length of CDS 1992
coding sequence (CDS) position 529
cDNA position
(for ins/del: last normal base / first normal base)		 646
gDNA position
(for ins/del: last normal base / first normal base)		 1976
chromosomal position
(for ins/del: last normal base / first normal base)		 56098733
original gDNA sequence snippet CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG
altered gDNA sequence snippet CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG
original cDNA sequence snippet CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG
altered cDNA sequence snippet CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG
wildtype AA sequence MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETTGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE GVTCEMLLNT
MDK*
mutated AA sequence MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETAGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE GVTCEMLLNT
MDK*
speed 1.24 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