Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 1.52364499414674e-22 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr1:153941514C>TN/A show variant in all transcripts   IGV
HGNC symbol CREB3L4
Ensembl transcript ID ENST00000405694
Genbank transcript ID N/A
UniProt peptide Q8TEY5
alteration type single base exchange
alteration region intron
DNA changes g.1505C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs11264743
databasehomozygous (T/T)heterozygousallele carriers
1000G1948991093
ExAC60552065726712
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2950.991
2.8011
(flanking)2.8361
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -6) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased1515wt: 0.24 / mu: 0.28wt: CTCTGAGGACCCCTGCCATCCAGACAGTCCCCCTGCCCCCA
mu: CTCTGAGGACTCCTGCCATCCAGACAGTCCCCCTGCCCCCA		 atcc|AGAC
Donor increased1498wt: 0.29 / mu: 0.78wt: ATCTCTGAGGACCCC
mu: ATCTCTGAGGACTCC		 CTCT|gagg
distance from splice site 296
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1295TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
3535CONFLICTP -> L (in Ref. 2; AAO33070).might get lost (downstream of altered splice site)
217280DOMAINbZIP.might get lost (downstream of altered splice site)
219248REGIONBasic motif (By similarity).might get lost (downstream of altered splice site)
259280REGIONLeucine-zipper (By similarity).might get lost (downstream of altered splice site)
296316TRANSMEMHelical; Signal-anchor for type II membrane protein; (Potential).might get lost (downstream of altered splice site)
317395TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
335335MUTAGENR->G: Abolishes cleavage by SP1.might get lost (downstream of altered splice site)
338339SITECleavage; by PS1 (By similarity).might get lost (downstream of altered splice site)
366366CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 494 / 494
chromosome 1
strand 1
last intron/exon boundary 1047
theoretical NMD boundary in CDS 503
length of CDS 747
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)		 1505
chromosomal position
(for ins/del: last normal base / first normal base)		 153941514
original gDNA sequence snippet ACAGTGGCATCTCTGAGGACCCCTGCCATCCAGACAGTCCC
altered gDNA sequence snippet ACAGTGGCATCTCTGAGGACTCCTGCCATCCAGACAGTCCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVPDSCMVSE LPFDAHAHIL PRAGTVAPVP CTTLLPCQTL FLTDEEKRLL GQEGVSLPSH
LPLTKAEERV LKKVRRKIRN KQSAQDSRRR KKEYIDGLES RVAACSAQNQ ELQKKVQELE
RHNISLVAQL RQLQTLIAQT SNKAAQTSTC VLILLFSLAL IILPSFSPFQ SRPEAGSEDY
QPHGVTSRNI LTHKDVTENL ETQVVESRLR EPPGAKDANG STRTLLEKMG GKPRPSGRIR
SVLHADEM*
mutated AA sequence N/A
speed 0.76 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