Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999839128248 (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) chr11:118405068A>GN/A show variant in all transcripts   IGV
HGNC symbol TMEM25
Ensembl transcript ID ENST00000354064
Genbank transcript ID NM_001144036
UniProt peptide Q86YD3
alteration type single base exchange
alteration region CDS
DNA changes c.581A>G
cDNA.641A>G
g.3313A>G
AA changes Q194R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 194
frameshift no
known variant Reference ID: rs12289253
databasehomozygous (G/G)heterozygousallele carriers
1000G3008981198
ExAC31251716720292
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6320.999
0.2880.999
(flanking)2.7761
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost3314sequence motif lost- wt: CAAG|gtac
 mu: CGAG.gtac
Acc marginally increased3309wt: 0.8363 / mu: 0.9140 (marginal change - not scored)wt: AGCCCGGCGGCCTCCTCACCAGCCAAGGTACTGGGGAAGGG
mu: AGCCCGGCGGCCTCCTCACCAGCCGAGGTACTGGGGAAGGG		 acca|GCCA
Donor marginally decreased3314wt: 0.8633 / mu: 0.7911 (marginal change - not scored)wt: AGCCAAGGTACTGGG
mu: AGCCGAGGTACTGGG		 CCAA|ggta
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      194LDPEPGGLLTSQGFIRLPVLGYIY
mutated  all conserved    194LDPEPGGLLTSRGFIRLPVLGYI
Ptroglodytes  all conserved  ENSPTRG00000004347  343LDPEPGGLLTSRGFIRLPMLGYI
Mmulatta  all conserved  ENSMMUG00000005492  342LDPEPGGLLTSRGFIRLPMLGYI
Fcatus  all conserved  ENSFCAG00000011792  342LDPEPGGLLTSRGFIRLPMLGYI
Mmusculus  all conserved  ENSMUSG00000002032  342LEAEPGGLLTSRGFIRLPMLGYI
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000003875  321AQQNPGGVYAARGFARYPMVGYI
Drerio  no alignment  ENSDARG00000077203  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000032181  245-RCGNLDDTGFDRFPLVGYI
protein features
start (aa)end (aa)featuredetails 
27232TOPO_DOMExtracellular (Potential).lost
205205CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
233253TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
254366TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 657 / 657
position (AA) of stopcodon in wt / mu AA sequence 219 / 219
position of stopcodon in wt / mu cDNA 717 / 717
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 61 / 61
chromosome 11
strand 1
last intron/exon boundary 644
theoretical NMD boundary in CDS 533
length of CDS 657
coding sequence (CDS) position 581
cDNA position
(for ins/del: last normal base / first normal base)		 641
gDNA position
(for ins/del: last normal base / first normal base)		 3313
chromosomal position
(for ins/del: last normal base / first normal base)		 118405068
original gDNA sequence snippet CGGCGGCCTCCTCACCAGCCAAGGTACTGGGGAAGGGGCCT
altered gDNA sequence snippet CGGCGGCCTCCTCACCAGCCGAGGTACTGGGGAAGGGGCCT
original cDNA sequence snippet CGGCGGCCTCCTCACCAGCCAAGGTTTCATCCGCCTCCCAG
altered cDNA sequence snippet CGGCGGCCTCCTCACCAGCCGAGGTTTCATCCGCCTCCCAG
wildtype AA sequence MALPPGPAAL RHTLLLLPAL LSSVKPEIAQ VGAKYQEAQG PGLLVVLFAL VRANPPANVT
WIDQDGPVTV NTSDFLVLDA QNYPWLTNHT VQLQLRSLAH NLSVVATNDV GVTSASLPAP
GPSRHPSLIS SDSNNLKLNN VRLPRENMSL PSNLQLNDLT PDSRAVKPAD RQMAQNNSRP
ELLDPEPGGL LTSQGFIRLP VLGYIYRVSS VSSDEIWL*
mutated AA sequence MALPPGPAAL RHTLLLLPAL LSSVKPEIAQ VGAKYQEAQG PGLLVVLFAL VRANPPANVT
WIDQDGPVTV NTSDFLVLDA QNYPWLTNHT VQLQLRSLAH NLSVVATNDV GVTSASLPAP
GPSRHPSLIS SDSNNLKLNN VRLPRENMSL PSNLQLNDLT PDSRAVKPAD RQMAQNNSRP
ELLDPEPGGL LTSRGFIRLP VLGYIYRVSS VSSDEIWL*
speed 1.26 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