Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998165 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:6621277G>AN/A show variant in all transcripts   IGV
HGNC symbol ZDHHC4
Ensembl transcript ID ENST00000335965
Genbank transcript ID N/A
UniProt peptide Q9NPG8
alteration type single base exchange
alteration region CDS
DNA changes c.157G>A
cDNA.365G>A
g.4213G>A
AA changes V53M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 53
frameshift no
known variant Reference ID: rs11559146
databasehomozygous (A/A)heterozygousallele carriers
1000G28110711352
ExAC63542005926413
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3820.015
-1.6190
(flanking)0.6610.001
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 increased4209wt: 0.9770 / mu: 0.9979 (marginal change - not scored)wt: CAGAGAGCCGTGCAT
mu: CAGAGAGCCATGCAT		 GAGA|gccg
Donor marginally increased4205wt: 0.8148 / mu: 0.8475 (marginal change - not scored)wt: TCTTCAGAGAGCCGT
mu: TCTTCAGAGAGCCAT		 TTCA|gaga
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      53SCIIPECLQRAVHGLLHYLFHTRN
mutated  all conserved    53SCIIPECLQRAMHGLLHYL
Ptroglodytes  all identical  ENSPTRG00000018915  53SCIIPECLQRAVHGLLHYL
Mmulatta  all conserved  ENSMMUG00000015545  53SCVIPECLQRAMHRSLHYL
Fcatus  no alignment  ENSFCAG00000008337  n/a
Mmusculus  all identical  ENSMUSG00000001844  53SRVIPQCLQRAVQTLLHQL
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000016903  53APLTPKWVRRLSQR
Drerio  not conserved  ENSDARG00000045159  53SPCIPQWLQSICYRTMH
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000016089  53SLVLPAWLPRRYKSCF
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1035 / 1035
position (AA) of stopcodon in wt / mu AA sequence 345 / 345
position of stopcodon in wt / mu cDNA 1243 / 1243
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 209 / 209
chromosome 7
strand 1
last intron/exon boundary 950
theoretical NMD boundary in CDS 691
length of CDS 1035
coding sequence (CDS) position 157
cDNA position
(for ins/del: last normal base / first normal base)		 365
gDNA position
(for ins/del: last normal base / first normal base)		 4213
chromosomal position
(for ins/del: last normal base / first normal base)		 6621277
original gDNA sequence snippet CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC
altered gDNA sequence snippet CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC
original cDNA sequence snippet CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC
altered cDNA sequence snippet CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC
wildtype AA sequence MDFLVLFLFY LASVLMGLVL ICVCSKTHSL KGLARGGAQI FSCIIPECLQ RAVHGLLHYL
FHTRNHTFIV LHLVLQGMVY TEYTWEVFGY CQELELSLHY LLLPYLLLGV NLFFFTLTCG
TNPGIITKAN ELLFLHVYEF DEVMFPKNVR CSTCDLRKPA RSKHCSVCNW CVHRFDHHCV
WVNNCIGAWN IRYFLIYVLT LTASAATVAI VSTTFLVHLV VMSDLYQETY IDDLGHLHVM
DTVFLIQYLF LTFPRIVFML GFVVVLSFLL GGYLLFVLYL AATNQTTNEW YRGDWAWCQR
CPLVAWPPSA EPQVHRNIHS HGLRSNLQEI FLPAFPCHER KKQE*
mutated AA sequence MDFLVLFLFY LASVLMGLVL ICVCSKTHSL KGLARGGAQI FSCIIPECLQ RAMHGLLHYL
FHTRNHTFIV LHLVLQGMVY TEYTWEVFGY CQELELSLHY LLLPYLLLGV NLFFFTLTCG
TNPGIITKAN ELLFLHVYEF DEVMFPKNVR CSTCDLRKPA RSKHCSVCNW CVHRFDHHCV
WVNNCIGAWN IRYFLIYVLT LTASAATVAI VSTTFLVHLV VMSDLYQETY IDDLGHLHVM
DTVFLIQYLF LTFPRIVFML GFVVVLSFLL GGYLLFVLYL AATNQTTNEW YRGDWAWCQR
CPLVAWPPSA EPQVHRNIHS HGLRSNLQEI FLPAFPCHER KKQE*
speed 0.67 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