Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999983996229831 (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) chr19:58572979G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF135
Ensembl transcript ID ENST00000511556
Genbank transcript ID NM_003436
UniProt peptide P52742
alteration type single base exchange
alteration region CDS
DNA changes c.65G>A
cDNA.136G>A
g.2373G>A
AA changes G22D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs1469087
databasehomozygous (A/A)heterozygousallele carriers
1000G16186832301
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4680.839
0.1340.843
(flanking)-0.0650.86
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 increased2378wt: 0.9789 / mu: 0.9810 (marginal change - not scored)wt: GCTTCAGCCAGGAGG
mu: ACTTCAGCCAGGAGG		 TTCA|gcca
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22PEQVTFEDVVVGFSQEEWGQLKPA
mutated  not conserved    22PEQVTFEDVVVDFSQEEWGQLKP
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000020498  22PEQVTFEDVVVDFSQEEWGQLKP
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087839  n/a
Dmelanogaster  no alignment  FBgn0025874  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1485DOMAINKRAB.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2013 / 2013
position (AA) of stopcodon in wt / mu AA sequence 671 / 671
position of stopcodon in wt / mu cDNA 2084 / 2084
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 72 / 72
chromosome 19
strand 1
last intron/exon boundary 328
theoretical NMD boundary in CDS 206
length of CDS 2013
coding sequence (CDS) position 65
cDNA position
(for ins/del: last normal base / first normal base)		 136
gDNA position
(for ins/del: last normal base / first normal base)		 2373
chromosomal position
(for ins/del: last normal base / first normal base)		 58572979
original gDNA sequence snippet GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG
altered gDNA sequence snippet GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG
original cDNA sequence snippet GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG
altered cDNA sequence snippet GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG
wildtype AA sequence MTPGVRVSTD PEQVTFEDVV VGFSQEEWGQ LKPAQRTLYR DVMLDTFRLL VSVGHWLPKP
NVISLLEQEA ELWAVESRLP QGVYPEIKGH FQFLLLSDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGE CGKAFSHSSS LTKHQRIHTG EKPYECHECG KAFTQITPLI QHQRTHTGEK
PYECGECGKA FSQSTLLTEH RRIHTGEKPY GCNECGKTFS HSSSLSQHER THTGEKPYEC
SQCGKAFRQS THLTQHQRIH TGEKPYECND CGKAFSHSSS LTKHQRIHTG EKPYECNQCG
RAFSQLAPLI QHQRIHTGEK PYECNQCGRA FSQSSLLIEH QRIHTKEKPY GCNECGKSFS
HSSSLSQHER THTGEKPYEC HDCGKSFRQS THLTQHRRIH TGEKPYACRD CGKAFTHSSS
LTKHQRTHTG *
mutated AA sequence MTPGVRVSTD PEQVTFEDVV VDFSQEEWGQ LKPAQRTLYR DVMLDTFRLL VSVGHWLPKP
NVISLLEQEA ELWAVESRLP QGVYPEIKGH FQFLLLSDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGE CGKAFSHSSS LTKHQRIHTG EKPYECHECG KAFTQITPLI QHQRTHTGEK
PYECGECGKA FSQSTLLTEH RRIHTGEKPY GCNECGKTFS HSSSLSQHER THTGEKPYEC
SQCGKAFRQS THLTQHQRIH TGEKPYECND CGKAFSHSSS LTKHQRIHTG EKPYECNQCG
RAFSQLAPLI QHQRIHTGEK PYECNQCGRA FSQSSLLIEH QRIHTKEKPY GCNECGKSFS
HSSSLSQHER THTGEKPYEC HDCGKSFRQS THLTQHRRIH TGEKPYACRD CGKAFTHSSS
LTKHQRTHTG *
speed 0.72 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