Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999926722654 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:58151286T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF211
Ensembl transcript ID ENST00000347302
Genbank transcript ID NM_198855
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.9526T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4801508
databasehomozygous (C/C)heterozygousallele carriers
1000G129814943
ExAC26619162182
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)-0.1350.001
-2.9850
(flanking)-0.1380.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9520wt: 0.4079 / mu: 0.4481 (marginal change - not scored)wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC
mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC		 tagg|ACTT
Acc marginally increased9518wt: 0.9180 / mu: 0.9461 (marginal change - not scored)wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC
mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC		 ctta|GGAC
distance from splice site 786
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 180 / 180
chromosome 19
strand 1
last intron/exon boundary 397
theoretical NMD boundary in CDS 167
length of CDS 1695
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)		 9526
chromosomal position
(for ins/del: last normal base / first normal base)		 58151286
original gDNA sequence snippet TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG
altered gDNA sequence snippet TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLGFPPGRPQ LPVQLRPQTR MATALRDPAS GSVTFEDVAV YFSWEEWDLL DEAQKHLYFD
VMLENFALTS SLGCWCGVEH EETPSEQRIS GERVPQFRTS KEGSSSQNAD SCEICCLVLR
DILHLAEHQG TNCGQKLHTC GKQFYISANL QQHQRQHITE APFRSYVDTA SFTQSCIVHV
SEKPFTCREI RKDFLANMRF LHQDATQTGE KPNNSNKCAV AFYSGKSHHN WGKCSKAFSH
IDTLVQDQRI LTREGLFECS KCGKACTRRC NLIQHQKVHS EERPYECNEC GKFFTYYSSF
IIHQRVHTGE RPYACPECGK SFSQIYSLNS HRKVHTGERP YECGECGKSF SQRSNLMQHR
RVHTGERPYE CSECGKSFSQ NFSLIYHQRV HTGERPHECN ECGKSFSRSS SLIHHRRLHT
GERPYECSKC GKSFKQSSSF SSHRKVHTGE RPYVCGECGK SFSHSSNLKN HQRVHTGERP
VECSECSKSF SCKSNLIKHL RVHTGERPYE CSECGKSFSQ SSSLIQHRRV HTGKRPYQCS
QCGKSFGCKS VLIQHQRVHI GEKP*
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