Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999577 (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) chr17:80086386C>TN/A show variant in all transcripts   IGV
HGNC symbol CCDC57
Ensembl transcript ID ENST00000324808
Genbank transcript ID N/A
UniProt peptide Q2TAC2
alteration type single base exchange
alteration region CDS
DNA changes c.250G>A
cDNA.264G>A
g.84321G>A
AA changes A84T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 84
frameshift no
known variant Reference ID: rs7406162
databasehomozygous (T/T)heterozygousallele carriers
1000G50410981602
ExAC3857951113368
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2110.002
-1.1710
(flanking)-1.3970
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 increased84324wt: 0.8429 / mu: 0.9257 (marginal change - not scored)wt: ACGCCCTGCAAGGCC
mu: ACACCCTGCAAGGCC		 GCCC|tgca
Donor marginally increased84325wt: 0.9890 / mu: 0.9925 (marginal change - not scored)wt: CGCCCTGCAAGGCCC
mu: CACCCTGCAAGGCCC		 CCCT|gcaa
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      84PRSAQVGSRLDALQGPKTQHSIHT
mutated  not conserved    84PRSAQVGSRLDTLQGPKTQHSIH
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000008326  n/a
Mmusculus  not conserved  ENSMUSG00000048445  858PHSAQVGSKTNTPRGHKAEMASRPAQLSQKQHRIP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25487COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 906 / 906
position (AA) of stopcodon in wt / mu AA sequence 302 / 302
position of stopcodon in wt / mu cDNA 920 / 920
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 15 / 15
chromosome 17
strand -1
last intron/exon boundary 499
theoretical NMD boundary in CDS 434
length of CDS 906
coding sequence (CDS) position 250
cDNA position
(for ins/del: last normal base / first normal base)		 264
gDNA position
(for ins/del: last normal base / first normal base)		 84321
chromosomal position
(for ins/del: last normal base / first normal base)		 80086386
original gDNA sequence snippet AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGGTG
altered gDNA sequence snippet AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGGTG
original cDNA sequence snippet AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGACA
altered cDNA sequence snippet AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGACA
wildtype AA sequence MGNRLRAELG RPERWLLHHA LPPAPEARKP GEEPRRPLDR SPPLGQVQPH FTSQDAKSAE
DEAPSRHLGK HQPRSAQVGS RLDALQGPKT QHSIHTVTCK SPRQKEDRSP KPPQAPQHPE
EHGRQSHSSS SFASGTLQDM WRLLDLGSSP SGVTSQGDST PEMGSHYVTQ AGLELLGSSS
PAALASQSAE MTGVGPTPSL AWSGALHPNM NQEASLVRST WAPGMRGGMN GGSSSVCKNM
QRGPHWSPSQ QPCSGIRTVL LSRKERTLLS CFSLPAPVVL VPLLLSGQAV TERAGHAGDI
L*
mutated AA sequence MGNRLRAELG RPERWLLHHA LPPAPEARKP GEEPRRPLDR SPPLGQVQPH FTSQDAKSAE
DEAPSRHLGK HQPRSAQVGS RLDTLQGPKT QHSIHTVTCK SPRQKEDRSP KPPQAPQHPE
EHGRQSHSSS SFASGTLQDM WRLLDLGSSP SGVTSQGDST PEMGSHYVTQ AGLELLGSSS
PAALASQSAE MTGVGPTPSL AWSGALHPNM NQEASLVRST WAPGMRGGMN GGSSSVCKNM
QRGPHWSPSQ QPCSGIRTVL LSRKERTLLS CFSLPAPVVL VPLLLSGQAV TERAGHAGDI
L*
speed 1.20 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