Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993322828483 (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) chr2:85824251T>CN/A show variant in all transcripts   IGV
HGNC symbol RNF181
Ensembl transcript ID ENST00000306368
Genbank transcript ID NM_016494
UniProt peptide Q9P0P0
alteration type single base exchange
alteration region CDS
DNA changes c.352T>C
cDNA.382T>C
g.1404T>C
AA changes Y118H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 118
frameshift no
known variant Reference ID: rs6643
databasehomozygous (C/C)heterozygousallele carriers
1000G229681910
ExAC1664855110215
regulatory features H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2320.998
1.7121
(flanking)1.6221
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1405wt: 0.5566 / mu: 0.5951 (marginal change - not scored)wt: TTCCTGTCCCTTGTGCCGCTATGAGCTGCCCACTGATGACG
mu: TTCCTGTCCCTTGTGCCGCCATGAGCTGCCCACTGATGACG		 gcta|TGAG
Acc marginally increased1397wt: 0.2587 / mu: 0.3057 (marginal change - not scored)wt: CAGACAAATTCCTGTCCCTTGTGCCGCTATGAGCTGCCCAC
mu: CAGACAAATTCCTGTCCCTTGTGCCGCCATGAGCTGCCCAC		 cttg|TGCC
Acc marginally increased1396wt: 0.4214 / mu: 0.4567 (marginal change - not scored)wt: TCAGACAAATTCCTGTCCCTTGTGCCGCTATGAGCTGCCCA
mu: TCAGACAAATTCCTGTCCCTTGTGCCGCCATGAGCTGCCCA		 cctt|GTGC
Acc marginally increased1398wt: 0.9575 / mu: 0.9739 (marginal change - not scored)wt: AGACAAATTCCTGTCCCTTGTGCCGCTATGAGCTGCCCACT
mu: AGACAAATTCCTGTCCCTTGTGCCGCCATGAGCTGCCCACT		 ttgt|GCCG
Donor marginally increased1401wt: 0.9567 / mu: 0.9857 (marginal change - not scored)wt: TGTGCCGCTATGAGC
mu: TGTGCCGCCATGAGC		 TGCC|gcta
Donor gained14030.39mu: TGCCGCCATGAGCTG CCGC|catg
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      118LSKTNSCPLCRYELPTDDDTYEEH
mutated  all conserved    118LSKTNSCPLCRHEL
Ptroglodytes  all conserved  ENSPTRG00000012138  118LSKTNSCPLCRHEL
Mmulatta  all conserved  ENSMMUG00000017824  118LSKTNSCPLCRHEL
Fcatus  all conserved  ENSFCAG00000011969  118LSKTNSCPLCRHEL
Mmusculus  no alignment  ENSMUSG00000055850  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000023958  121LELPTDNADYEE
Dmelanogaster  all identical  FBgn0038627  111LKKTNSCPLCRYE
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000001266  132LGKTNSCPLCRHELPTDSPEYEE
protein features
start (aa)end (aa)featuredetails 
76117ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
153153MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 462 / 462
position (AA) of stopcodon in wt / mu AA sequence 154 / 154
position of stopcodon in wt / mu cDNA 492 / 492
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 31 / 31
chromosome 2
strand 1
last intron/exon boundary 433
theoretical NMD boundary in CDS 352
length of CDS 462
coding sequence (CDS) position 352
cDNA position
(for ins/del: last normal base / first normal base)		 382
gDNA position
(for ins/del: last normal base / first normal base)		 1404
chromosomal position
(for ins/del: last normal base / first normal base)		 85824251
original gDNA sequence snippet ATTCCTGTCCCTTGTGCCGCTATGAGCTGCCCACTGATGAC
altered gDNA sequence snippet ATTCCTGTCCCTTGTGCCGCCATGAGCTGCCCACTGATGAC
original cDNA sequence snippet ATTCCTGTCCCTTGTGCCGCTATGAGCTGCCCACTGATGAC
altered cDNA sequence snippet ATTCCTGTCCCTTGTGCCGCCATGAGCTGCCCACTGATGAC
wildtype AA sequence MASYFDEHDC EPSDPEQETR TNMLLELARS LFNRMDFEDL GLVVDWDHHL PPPAAKTVVE
NLPRTVIRGS QAELKCPVCL LEFEEEETAI EMPCHHLFHS SCILPWLSKT NSCPLCRYEL
PTDDDTYEEH RRDKARKQQQ QHRLENLHGA MYT*
mutated AA sequence MASYFDEHDC EPSDPEQETR TNMLLELARS LFNRMDFEDL GLVVDWDHHL PPPAAKTVVE
NLPRTVIRGS QAELKCPVCL LEFEEEETAI EMPCHHLFHS SCILPWLSKT NSCPLCRHEL
PTDDDTYEEH RRDKARKQQQ QHRLENLHGA MYT*
speed 0.48 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