Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.87713957248686e-05 (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) chr1:153941514C>TN/A show variant in all transcripts   IGV
HGNC symbol CREB3L4
Ensembl transcript ID ENST00000368601
Genbank transcript ID N/A
UniProt peptide Q8TEY5
alteration type single base exchange
alteration region CDS
DNA changes c.283C>T
cDNA.361C>T
g.1505C>T
AA changes P95S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 95
frameshift no
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
effectgDNA positionscorewt detection 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 109
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      95SPGSDSGISEDPCHPDSPPAPRAT
mutated  not conserved    95SPGSDSGISEDSCHPDSPPAPRA
Ptroglodytes  all identical  ENSPTRG00000001368  95SPGSDSGISEDPCHPDSPPAPRA
Mmulatta  all identical  ENSMMUG00000005008  95SPGNDSGTSEDPCRPDSPPAPRA
Fcatus  all identical  ENSFCAG00000012586  27SASSDSGISADPGRPDRPPAPQA
Mmusculus  all identical  ENSMUSG00000027938  74SPGRDSGVSEDP----GSPAQQA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000011094  83SSESDCSLSEDP--P
Drerio  not conserved  ENSDARG00000088355  36CE-SDSGVSEDQSSDGAHEHTSS
Dmelanogaster  no homologue    
Celegans  all identical  F57B10.1  47SPGSPYQALEDPSFLDK----HF
Xtropicalis  all identical  ENSXETG00000002133  37SPESDSGFSDDP-RPDTPPQSE-
protein features
start (aa)end (aa)featuredetails 
1295TOPO_DOMCytoplasmic (Potential).lost
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 654 / 654
position (AA) of stopcodon in wt / mu AA sequence 218 / 218
position of stopcodon in wt / mu cDNA 732 / 732
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 79 / 79
chromosome 1
strand 1
last intron/exon boundary 622
theoretical NMD boundary in CDS 493
length of CDS 654
coding sequence (CDS) position 283
cDNA position
(for ins/del: last normal base / first normal base)		 361
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 ACAGTGGCATCTCTGAGGACCCCTGCCATCCAGACAGTCCC
altered cDNA sequence snippet ACAGTGGCATCTCTGAGGACTCCTGCCATCCAGACAGTCCC
wildtype AA sequence MDLGIPDLLD AWLEPPEDIF STGSVLELGL HCPPPEVPVT RLQEQGLQGW KSGGDRGCGL
QESEPEDFLK LFIDPNEVYC SEASPGSDSG ISEDPCHPDS PPAPRATSSP MLYEVVYEAG
ALERMQGETG PNVGLISIQL DQWSPAFMVP DSCMVSELPF DAHAHILPRA GTVAPVPCTT
LLPCQTLFLT DEEKRLLGQE GVSLPSHLPL TKVTCFP*
mutated AA sequence MDLGIPDLLD AWLEPPEDIF STGSVLELGL HCPPPEVPVT RLQEQGLQGW KSGGDRGCGL
QESEPEDFLK LFIDPNEVYC SEASPGSDSG ISEDSCHPDS PPAPRATSSP MLYEVVYEAG
ALERMQGETG PNVGLISIQL DQWSPAFMVP DSCMVSELPF DAHAHILPRA GTVAPVPCTT
LLPCQTLFLT DEEKRLLGQE GVSLPSHLPL TKVTCFP*
speed 0.98 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