Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999727 (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) chr4:186380846A>TN/A show variant in all transcripts   IGV
HGNC symbol CCDC110
Ensembl transcript ID ENST00000510617
Genbank transcript ID N/A
UniProt peptide Q8TBZ0
alteration type single base exchange
alteration region CDS
DNA changes c.895T>A
cDNA.956T>A
g.12068T>A
AA changes L299M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs7698680
databasehomozygous (T/T)heterozygousallele carriers
1000G40811151523
ExAC14576361518191
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0020.001
-0.1290.015
(flanking)0.6040.411
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 increased12073wt: 0.6865 / mu: 0.7199 (marginal change - not scored)wt: TTGGACGGTAACTTA
mu: ATGGACGGTAACTTA		 GGAC|ggta
Donor gained120640.56mu: GAAGAAAACATGGAC AGAA|aaca
Donor gained120680.60mu: AAAACATGGACGGTA AACA|tgga
distance from splice site 547
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299QDKMNFIKEENLDGNLNEDIKSKR
mutated  all conserved    299QDKMNFIKEENMDGNLNEDIKSK
Ptroglodytes  all conserved  ENSPTRG00000016653  299QDKMNFIKEENMDGNLNEDIKSK
Mmulatta  all conserved  ENSMMUG00000000359  298QEKMNFIKEENMDGNLNEDIKSK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000071104  306SSKLNFIQQENMEGNLSEDMKSK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000075943  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
431778COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2511 / 2511
position (AA) of stopcodon in wt / mu AA sequence 837 / 837
position of stopcodon in wt / mu cDNA 2572 / 2572
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 62 / 62
chromosome 4
strand -1
last intron/exon boundary 2523
theoretical NMD boundary in CDS 2411
length of CDS 2511
coding sequence (CDS) position 895
cDNA position
(for ins/del: last normal base / first normal base)		 956
gDNA position
(for ins/del: last normal base / first normal base)		 12068
chromosomal position
(for ins/del: last normal base / first normal base)		 186380846
original gDNA sequence snippet ACTTTATTAAGGAAGAAAACTTGGACGGTAACTTAAATGAA
altered gDNA sequence snippet ACTTTATTAAGGAAGAAAACATGGACGGTAACTTAAATGAA
original cDNA sequence snippet ACTTTATTAAGGAAGAAAACTTGGACGGTAACTTAAATGAA
altered cDNA sequence snippet ACTTTATTAAGGAAGAAAACATGGACGGTAACTTAAATGAA
wildtype AA sequence MSPEKQHREE DEVDSVLLSA SKILNSSEGV KESGCSDTEY GCIAESENQI QPQSALKVLQ
QQLESFQALR MQTLQNVSMV QSEISEILNK SIIEVENPQF SSEKNLVFGT RIEKDLPTEN
QEENLSMEKS HHFEDSKTLH SVEEKLSGDS VNSLPQSVNV PSQIHSEDTL TLRTSTDNLS
SNIIIHPSEN SDILKNYNNF YRFLPTAPPN VMSQADTVIL DKSKITVPFL KHGFCENLDD
ICHSIKQMKE ELQKSHDGEV ALTNELQTLQ TDPDVHRNGK YDMSPIHQDK MNFIKEENLD
GNLNEDIKSK RISELEALVK KLLPFRETVS KFHVHFCRKC KKLSKSEMHR GKKNEKNNKE
IPITGKNITD LKFHSRVPRY TLSFLDQTKH EMKDKERQPF LVKQGSIISE NEKTSKVNSV
TEQCVAKIQY LQNYLKESVQ IQKKVMELES ENLNLKSKMK PLIFTTQSLI QKVETYEKQL
KNLVEEKSTI QSKLSKTEEY SKECLKEFKK IISKYNVLQG QNKTLEEKNI QLSLEKQQMM
EALDQLKSKE HKTQSDMAIV NNENNRMSIE MEAMKTNILL IQDEKEMLEK KTHQLLKEKS
SLGNELKESQ LEIIQLKEKE RLAKTEQETL LQIIETVKDE KLNLETTLQE STAARQIMER
EIENIQTYQS TAEENFLQEI KNAKSEASIY KNSLSEIGKE CEMLSKMVME TKTDNQILKE
ELKKHSQENI KFENSISRLT EDKILLENYV RSIENERDTL EFEMRHLQRE YLSLSDKICN
QHNDPSKTTY ISRREKFHFD NYTHEDTSSP QSRPLASDLK GIPSKLYHLL PSKIYK*
mutated AA sequence MSPEKQHREE DEVDSVLLSA SKILNSSEGV KESGCSDTEY GCIAESENQI QPQSALKVLQ
QQLESFQALR MQTLQNVSMV QSEISEILNK SIIEVENPQF SSEKNLVFGT RIEKDLPTEN
QEENLSMEKS HHFEDSKTLH SVEEKLSGDS VNSLPQSVNV PSQIHSEDTL TLRTSTDNLS
SNIIIHPSEN SDILKNYNNF YRFLPTAPPN VMSQADTVIL DKSKITVPFL KHGFCENLDD
ICHSIKQMKE ELQKSHDGEV ALTNELQTLQ TDPDVHRNGK YDMSPIHQDK MNFIKEENMD
GNLNEDIKSK RISELEALVK KLLPFRETVS KFHVHFCRKC KKLSKSEMHR GKKNEKNNKE
IPITGKNITD LKFHSRVPRY TLSFLDQTKH EMKDKERQPF LVKQGSIISE NEKTSKVNSV
TEQCVAKIQY LQNYLKESVQ IQKKVMELES ENLNLKSKMK PLIFTTQSLI QKVETYEKQL
KNLVEEKSTI QSKLSKTEEY SKECLKEFKK IISKYNVLQG QNKTLEEKNI QLSLEKQQMM
EALDQLKSKE HKTQSDMAIV NNENNRMSIE MEAMKTNILL IQDEKEMLEK KTHQLLKEKS
SLGNELKESQ LEIIQLKEKE RLAKTEQETL LQIIETVKDE KLNLETTLQE STAARQIMER
EIENIQTYQS TAEENFLQEI KNAKSEASIY KNSLSEIGKE CEMLSKMVME TKTDNQILKE
ELKKHSQENI KFENSISRLT EDKILLENYV RSIENERDTL EFEMRHLQRE YLSLSDKICN
QHNDPSKTTY ISRREKFHFD NYTHEDTSSP QSRPLASDLK GIPSKLYHLL PSKIYK*
speed 1.07 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