Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999986341 (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) chr19:53075519G>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF701
Ensembl transcript ID ENST00000540331
Genbank transcript ID NM_001172655
UniProt peptide Q9NV72
alteration type single base exchange
alteration region CDS
DNA changes c.25G>T
cDNA.250G>T
g.1994G>T
AA changes D9Y Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs8104138
databasehomozygous (T/T)heterozygousallele carriers
1000G31511161431
ExAC97723033280
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.210.018
0.210.016
(flanking)-1.1270.013
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1992wt: 0.41 / mu: 0.63wt: GGGGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGA
mu: GGGGTTTCTCCATGTTGGTCAGTATGGTCTCGAACTCCCGA		 gtca|GGAT
Donor increased1992wt: 0.77 / mu: 0.87wt: TGGTCAGGATGGTCT
mu: TGGTCAGTATGGTCT		 GTCA|ggat
Donor gained19870.74mu: CATGTTGGTCAGTAT TGTT|ggtc
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MGFLHVGQDGLELPTSGDPPA
mutated  not conserved    9 MGFLHVGQYGLELPTSGDPPAS
Ptroglodytes  no homologue    
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 
880DOMAINKRAB.lost
270292ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
298320ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
326348ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
354376ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
382404ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1596 / 1596
position (AA) of stopcodon in wt / mu AA sequence 532 / 532
position of stopcodon in wt / mu cDNA 1821 / 1821
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 226 / 226
chromosome 19
strand 1
last intron/exon boundary 566
theoretical NMD boundary in CDS 290
length of CDS 1596
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 250
gDNA position
(for ins/del: last normal base / first normal base)		 1994
chromosomal position
(for ins/del: last normal base / first normal base)		 53075519
original gDNA sequence snippet GGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACA
altered gDNA sequence snippet GGTTTCTCCATGTTGGTCAGTATGGTCTCGAACTCCCGACA
original cDNA sequence snippet GGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACA
altered cDNA sequence snippet GGTTTCTCCATGTTGGTCAGTATGGTCTCGAACTCCCGACA
wildtype AA sequence MGFLHVGQDG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*
mutated AA sequence MGFLHVGQYG LELPTSGDPP ASASQSAGIT GVSHRTQPPC FEGLTSKDLV REEKTRKRKR
KAKESGMALL QGLLTFRDVA IEFSQEEWKC LDPAQRTLYR DVMLENYRNL VSLDTSSKCM
MKMFSSTGQG NTEVVHTGTL QIHASHHIGD TCFQEIEKDI HDFVFQWQEN ETNGHEALMT
KTKKLMSSTE RHDQRHAGNK PIKNELGSSF HSHLPEVHIF HPEGKIGNQV EKAINDAFSV
SASQRISCRP KTRISNKYRN NFLQSSLLTQ KREVHTREKS FQRNESGKAF NGSSLLKKHQ
IIHLGDKQYK CDVCGKDFHQ KRYLACHRCH TGENPYTCNE CGKTFSHNSA LLVHKAIHTG
EKPYKCNECG KVFNQQSNLA RHHRVHTGEK PYKCEECDKV FSRKSHLERH RRIHTGEKPY
KCKVCDKAFR RDSHLAQHTV IHTGEKPYKC NECGKTFVQN SSLVMHKVIH TGEKRYKCNE
CGKVFNHKSN LACHRRLHTG EKPYKCNECG KVFNRKSNLE RHHRLHTGKK S*
speed 1.18 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