Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.473063039539876 (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) chr8:76468282G>AN/A show variant in all transcripts   IGV
HGNC symbol HNF4G
Ensembl transcript ID ENST00000396423
Genbank transcript ID NM_004133
UniProt peptide Q14541
alteration type single base exchange
alteration region CDS
DNA changes c.681G>A
cDNA.805G>A
g.148134G>A
AA changes M227I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 227
frameshift no
known variant Reference ID: rs1805098
databasehomozygous (A/A)heterozygousallele carriers
1000G10679452012
ExAC21377-998711390
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7720.865
-0.0510.85
(flanking)4.9581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased148135wt: 0.80 / mu: 0.95wt: TGATGTATAAAGATA
mu: TGATATATAAAGATA		 ATGT|ataa
Donor gained1481300.34mu: ATCCATGATATATAA CCAT|gata
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      227HLLLGATKRSMMYKDILLLGNNYV
mutated  all conserved    227HLLLGATKRSMIYKDILLLGNNY
Ptroglodytes  all identical  ENSPTRG00000020357  227HLLLGATKRSMMYKDILLLGNNY
Mmulatta  all identical  ENSMMUG00000002774  190LLGATKRSMMYKDILLLGNNY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000017688  244HLLLGATKRSMMYKDILLLGNHY
Ggallus  not conserved  ENSGALG00000015670  237HLLLGAAKRSMAYKDILLLGNNY
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000071565  240HLLLGVAKRSMSYKDLLLLGNGC
Dmelanogaster  not conserved  FBgn0004914  354HLLLGLSRRSMHLKDVLLLSNNC
Celegans  not conserved  T23H4.2  196IIVLGVAYRSICLTVENTICLANDT
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
224230HELIXlost
234245HELIXmight get lost (downstream of altered splice site)
256275HELIXmight get lost (downstream of altered splice site)
277280STRANDmight get lost (downstream of altered splice site)
281283TURNmight get lost (downstream of altered splice site)
284289HELIXmight get lost (downstream of altered splice site)
292311HELIXmight get lost (downstream of altered splice site)
319324HELIXmight get lost (downstream of altered splice site)
325327TURNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1338 / 1338
position (AA) of stopcodon in wt / mu AA sequence 446 / 446
position of stopcodon in wt / mu cDNA 1462 / 1462
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 125 / 125
chromosome 8
strand 1
last intron/exon boundary 1341
theoretical NMD boundary in CDS 1166
length of CDS 1338
coding sequence (CDS) position 681
cDNA position
(for ins/del: last normal base / first normal base)		 805
gDNA position
(for ins/del: last normal base / first normal base)		 148134
chromosomal position
(for ins/del: last normal base / first normal base)		 76468282
original gDNA sequence snippet GCTACAAAGAGATCCATGATGTATAAAGATATTTTGCTTTT
altered gDNA sequence snippet GCTACAAAGAGATCCATGATATATAAAGATATTTTGCTTTT
original cDNA sequence snippet GCTACAAAGAGATCCATGATGTATAAAGATATTTTGCTTTT
altered cDNA sequence snippet GCTACAAAGAGATCCATGATATATAAAGATATTTTGCTTTT
wildtype AA sequence MDMANYSEVL DPTYTTLEFE TMQILYNSSD SSAPETSMNT TDNGVNCLCA ICGDRATGKH
YGASSCDGCK GFFRRSIRKS HVYSCRFSRQ CVVDKDKRNQ CRYCRLRKCF RAGMKKEAVQ
NERDRISTRR STFDGSNIPS INTLAQAEVR SRQISVSSPG SSTDINVKKI ASIGDVCESM
KQQLLVLVEW AKYIPAFCEL PLDDQVALLR AHAGEHLLLG ATKRSMMYKD ILLLGNNYVI
HRNSCEVEIS RVANRVLDEL VRPFQEIQID DNEYACLKAI VFFDPDAKGL SDPVKIKNMR
FQVQIGLEDY INDRQYDSRG RFGELLLLLP TLQSITWQMI EQIQFVKLFG MVKIDNLLQE
MLLGGASNDG SHLHHPMHPH LSQDPLTGQT ILLGPMSTLV HADQISTPET PLPSPPQGSG
QEQYKIAANQ ASVISHQHLS KQKQL*
mutated AA sequence MDMANYSEVL DPTYTTLEFE TMQILYNSSD SSAPETSMNT TDNGVNCLCA ICGDRATGKH
YGASSCDGCK GFFRRSIRKS HVYSCRFSRQ CVVDKDKRNQ CRYCRLRKCF RAGMKKEAVQ
NERDRISTRR STFDGSNIPS INTLAQAEVR SRQISVSSPG SSTDINVKKI ASIGDVCESM
KQQLLVLVEW AKYIPAFCEL PLDDQVALLR AHAGEHLLLG ATKRSMIYKD ILLLGNNYVI
HRNSCEVEIS RVANRVLDEL VRPFQEIQID DNEYACLKAI VFFDPDAKGL SDPVKIKNMR
FQVQIGLEDY INDRQYDSRG RFGELLLLLP TLQSITWQMI EQIQFVKLFG MVKIDNLLQE
MLLGGASNDG SHLHHPMHPH LSQDPLTGQT ILLGPMSTLV HADQISTPET PLPSPPQGSG
QEQYKIAANQ ASVISHQHLS KQKQL*
speed 0.78 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