Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 3.61750991323204e-18 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1213487)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:76817090C>TN/A show variant in all transcripts   IGV
HGNC symbol USP36
Ensembl transcript ID ENST00000449938
Genbank transcript ID N/A
UniProt peptide Q9P275
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.1367G>A
g.20434G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3744793
databasehomozygous (T/T)heterozygousallele carriers
1000G37310501423
ExAC87451527724022

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213487)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.8010.988
0.4170.986
(flanking)0.4510.988
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -27) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased20439wt: 0.22 / mu: 0.50wt: GTCGCGCTGGAGATC
mu: ATCGCGCTGGAGATC		 CGCG|ctgg
distance from splice site 18
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
8282CONFLICTR -> G (in Ref. 2; AAH71582).might get lost (downstream of altered splice site)
131131ACT_SITENucleophile (By similarity).might get lost (downstream of altered splice site)
382382ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
464464MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
494494MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
513513MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
515515MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
546546MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
573573CONFLICTD -> G (in Ref. 3; BAA91825).might get lost (downstream of altered splice site)
582582MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
613613MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
614614MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
653653MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
667667MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
682682MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
713713MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
742742MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
874874MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
952952MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10481048MOD_RESPhosphoserine.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 1457 / 1457
chromosome 17
strand -1
last intron/exon boundary 3664
theoretical NMD boundary in CDS 2157
length of CDS 2187
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 1367
gDNA position
(for ins/del: last normal base / first normal base)		 20434
chromosomal position
(for ins/del: last normal base / first normal base)		 76817090
original gDNA sequence snippet CCTACGACCCCTACTTGGACGTCGCGCTGGAGATCCGGGTA
altered gDNA sequence snippet CCTACGACCCCTACTTGGACATCGCGCTGGAGATCCGGGTA
original cDNA sequence snippet CCTACGACCCCTACTTGGACGTCGCGCTGGAGATCCGGCAA
altered cDNA sequence snippet CCTACGACCCCTACTTGGACATCGCGCTGGAGATCCGGCAA
wildtype AA sequence MCAKCKKKVP ASKRFTIHRT SNVLTLSLKR FANFSGGKIT KDVGYPEFLN IRPYMSQNNG
DPVMYGLYAV LVHSGYSCHA GHYYCYVKAS NGQWYQMNDS LVHSSNVKVV LNQQAYVLFY
LRIPGSKKSP EGLISRTGSS SLPGRPSVIP DHSKKNIGNG IISSPLTGKR QDSGTMKKPH
TTEEIGVPIS RNGSTLGLKS QNGCIPPKLP SGSPSPKLSQ TPTHMPTILD DPGKKVKKPA
PPQHFSPRTA QGLPGTSNSN SSRSGSQRQG SWDSRDVVLS TSPKLLATAT ANGHGLKGND
ESAGLDRRGS SSSSPEHSAS SDSTKAPQTP RSGAAHLCDS QETNCSTAGH SKTPPSGADS
KTVKLKSPVL SNTTTEPAST MSPPPAKKLA LSAKKASTLW RATGNDLRPP PPSPSSDLTH
PMKTSHPVVA STWPVHRARA VSPAPQSSSR LQPPFSPHPT AASALQEGQT QRQPGSPMYR
REGQAQLPAV RRQEDGTQPQ VNGQQVGCVT DGHHASSRKR RRKGAEGLGE EGGLHQDPLR
HSCSPMGDGD PEAMEESPRK KKKKKRKQET QRAVEEDGHL KCPRSAKPQD AVVPESSSCA
PSANGWCPGD RMGLSQAPPV SWNGERESDV VQELLKYSSD KAYGRKVLTW DGKMSAVSQD
AIEDSRQART ETVVDDWDEE FDRGKEKKIK KFKREKRRNF NAFQKLQTRR NFWSVTHPAK
AASLSYRR*
mutated AA sequence N/A
speed 1.05 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