Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.993348975831345 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:102591042A>GN/A show variant in all transcripts   IGV
HGNC symbol NR4A3
Ensembl transcript ID ENST00000330847
Genbank transcript ID NM_173200
UniProt peptide Q92570
alteration type single base exchange
alteration region CDS
DNA changes c.751A>G
cDNA.795A>G
g.6906A>G
AA changes S251G Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 251
frameshift no
known variant Reference ID: rs12344570
databasehomozygous (G/G)heterozygousallele carriers
1000G38510991484
ExAC31312571570
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)2.9281
0.6781
(flanking)2.2011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 234
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      251AAAGSQAAALESHPYGLPLAKRAA
mutated  not conserved    251AAGSQAAALEGHPYGLPLAKRA
Ptroglodytes  not conserved  ENSPTRG00000021186  251AAGSQAAALEGHPYGLPLAKRA
Mmulatta  not conserved  ENSMMUG00000011410  251AAGSQVAALEGHPYGLPLAKRA
Fcatus  no alignment  ENSFCAG00000008621  n/a
Mmusculus  not conserved  ENSMUSG00000028341  271AAAGSQAAALEGHPYGLPLAKRT
Ggallus  all identical  ENSGALG00000013568  216PAGQAP-MESHSYGLPLAKRP
Trubripes  not conserved  ENSTRUG00000011235  204SSSSSVSLHHGPPLEQPMYQLHRGAAG
Drerio  all identical  ENSDARG00000055854  209HAHSHVHSHTHSNMYPINMGKPG
Dmelanogaster  all identical  FBgn0014859  669AVEAAAAATVSSPSVGGPPPVRR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1914 / 1914
position (AA) of stopcodon in wt / mu AA sequence 638 / 638
position of stopcodon in wt / mu cDNA 1958 / 1958
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 45 / 45
chromosome 9
strand 1
last intron/exon boundary 1711
theoretical NMD boundary in CDS 1616
length of CDS 1914
coding sequence (CDS) position 751
cDNA position
(for ins/del: last normal base / first normal base)		 795
gDNA position
(for ins/del: last normal base / first normal base)		 6906
chromosomal position
(for ins/del: last normal base / first normal base)		 102591042
original gDNA sequence snippet GCCAGGCCGCCGCGCTTGAGAGCCACCCGTACGGGCTGCCG
altered gDNA sequence snippet GCCAGGCCGCCGCGCTTGAGGGCCACCCGTACGGGCTGCCG
original cDNA sequence snippet GCCAGGCCGCCGCGCTTGAGAGCCACCCGTACGGGCTGCCG
altered cDNA sequence snippet GCCAGGCCGCCGCGCTTGAGGGCCACCCGTACGGGCTGCCG
wildtype AA sequence MHDSIRFGNV DMPCVQAQYS PSPPGSSYAA QTYSSEYTTE IMNPDYTKLT MDLGSTEITA
TATTSLPSIS TFVEGYSSNY ELKPSCVYQM QRPLIKVEEG RAPSYHHHHH HHHHHHHHHQ
QQHQQPSIPP ASSPEDEVLP STSMYFKQSP PSTPTTPAFP PQAGALWDEA LPSAPGCIAP
GPLLDPPMKA VPTVAGARFP LFHFKPSPPH PPAPSPAGGH HLGYDPTAAA ALSLPLGAAA
AAGSQAAALE SHPYGLPLAK RAAPLAFPPL GLTPSPTASS LLGESPSLPS PPSRSSSSGE
GTCAVCGDNA ACQHYGVRTC EGCKGFFKRT VQKNAKYVCL ANKNCPVDKR RRNRCQYCRF
QKCLSVGMVK EVVRTDSLKG RRGRLPSKPK SPLQQEPSQP SPPSPPICMM NALVRALTDS
TPRDLDYSRY CPTDQAAAGT DAEHVQQFYN LLTASIDVSR SWAEKIPGFT DLPKEDQTLL
IESAFLELFV LRLSIRSNTA EDKFVFCNGL VLHRLQCLRG FGEWLDSIKD FSLNLQSLNL
DIQALACLSA LSMITERHGL KEPKRVEELC NKITSSLKDH QSKGQALEPT ESKVLGALVE
LRKICTLGLQ RIFYLKLEDL VSPPSIIDKL FLDTLPF*
mutated AA sequence MHDSIRFGNV DMPCVQAQYS PSPPGSSYAA QTYSSEYTTE IMNPDYTKLT MDLGSTEITA
TATTSLPSIS TFVEGYSSNY ELKPSCVYQM QRPLIKVEEG RAPSYHHHHH HHHHHHHHHQ
QQHQQPSIPP ASSPEDEVLP STSMYFKQSP PSTPTTPAFP PQAGALWDEA LPSAPGCIAP
GPLLDPPMKA VPTVAGARFP LFHFKPSPPH PPAPSPAGGH HLGYDPTAAA ALSLPLGAAA
AAGSQAAALE GHPYGLPLAK RAAPLAFPPL GLTPSPTASS LLGESPSLPS PPSRSSSSGE
GTCAVCGDNA ACQHYGVRTC EGCKGFFKRT VQKNAKYVCL ANKNCPVDKR RRNRCQYCRF
QKCLSVGMVK EVVRTDSLKG RRGRLPSKPK SPLQQEPSQP SPPSPPICMM NALVRALTDS
TPRDLDYSRY CPTDQAAAGT DAEHVQQFYN LLTASIDVSR SWAEKIPGFT DLPKEDQTLL
IESAFLELFV LRLSIRSNTA EDKFVFCNGL VLHRLQCLRG FGEWLDSIKD FSLNLQSLNL
DIQALACLSA LSMITERHGL KEPKRVEELC NKITSSLKDH QSKGQALEPT ESKVLGALVE
LRKICTLGLQ RIFYLKLEDL VSPPSIIDKL FLDTLPF*
speed 1.17 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