Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.948445790013692 (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) chr4:38879949G>AN/A show variant in all transcripts   IGV
HGNC symbol FAM114A1
Ensembl transcript ID ENST00000358869
Genbank transcript ID NM_138389
UniProt peptide Q8IWE2
alteration type single base exchange
alteration region CDS
DNA changes c.250G>A
cDNA.426G>A
g.10652G>A
AA changes G84R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 84
frameshift no
known variant Reference ID: rs11096964
databasehomozygous (A/A)heterozygousallele carriers
1000G124770894
ExAC40922182425916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3970.143
0.5930.52
(flanking)1.0980.817
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased10649wt: 0.53 / mu: 0.63wt: ACGCCCTGGAGCCCCCTCTCAATGGAGACGTGACTGAGGAT
mu: ACGCCCTGGAGCCCCCTCTCAATAGAGACGTGACTGAGGAT		 ctca|ATGG
Acc marginally increased10653wt: 0.5736 / mu: 0.5981 (marginal change - not scored)wt: CCTGGAGCCCCCTCTCAATGGAGACGTGACTGAGGATACAC
mu: CCTGGAGCCCCCTCTCAATAGAGACGTGACTGAGGATACAC		 atgg|AGAC
Donor increased10654wt: 0.79 / mu: 0.96wt: AATGGAGACGTGACT
mu: AATAGAGACGTGACT		 TGGA|gacg
Donor marginally increased10652wt: 0.9956 / mu: 0.9982 (marginal change - not scored)wt: TCAATGGAGACGTGA
mu: TCAATAGAGACGTGA		 AATG|gaga
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      84QDANALEPPLNGDVTEDTLAECID
mutated  not conserved    84QDANALEPPLNRDVTEDTLAECI
Ptroglodytes  all identical  ENSPTRG00000023549  84QDANALEPPLNGDVTEDTLAECI
Mmulatta  all identical  ENSMMUG00000004471  84QDANTMEPPLNGEVTEDTLAECI
Fcatus  no alignment  ENSFCAG00000005987  n/a
Mmusculus  all identical  ENSMUSG00000029185  85KASAADETPLNGEVTEDTLVECV
Ggallus  all identical  ENSGALG00000013583  83EEI-AESLPSNGDVTEDVPTECI
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000008287  83KDVKEKQEQLLEDKPEGQVAECV
Dmelanogaster  no alignment  FBgn0038360  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000018498  n/a
protein features
start (aa)end (aa)featuredetails 
196196MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
199199MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
343367COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1692 / 1692
position (AA) of stopcodon in wt / mu AA sequence 564 / 564
position of stopcodon in wt / mu cDNA 1868 / 1868
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 177 / 177
chromosome 4
strand 1
last intron/exon boundary 1767
theoretical NMD boundary in CDS 1540
length of CDS 1692
coding sequence (CDS) position 250
cDNA position
(for ins/del: last normal base / first normal base)		 426
gDNA position
(for ins/del: last normal base / first normal base)		 10652
chromosomal position
(for ins/del: last normal base / first normal base)		 38879949
original gDNA sequence snippet CCCTGGAGCCCCCTCTCAATGGAGACGTGACTGAGGATACA
altered gDNA sequence snippet CCCTGGAGCCCCCTCTCAATAGAGACGTGACTGAGGATACA
original cDNA sequence snippet CCCTGGAGCCCCCTCTCAATGGAGACGTGACTGAGGATACA
altered cDNA sequence snippet CCCTGGAGCCCCCTCTCAATAGAGACGTGACTGAGGATACA
wildtype AA sequence MSDDAGDTLA TGDKAEVTEM PNSDSLPEDA EVHCDSAAVS HEPTPADPRG EGHENAAVQG
AGAAAIGPPV QPQDANALEP PLNGDVTEDT LAECIDSVSL EAEPRSEIPL QEQNYLAVDS
PPSGGGWAGW GSWGKSLLSS ASATVGHGLT AVKEKAGATL RIHGVNSGSS EGAQPNTENG
VPEITDAATD QGPAESPPTS PSSASRGMLS AITNVVQNTG KSVLTGGLDA LEFIGKKTMN
VLAESDPGFK RTKTLMERTV SLSQMLREAK EKEKQRLAQQ LTMERTAHYG MLFDEYQGLS
HLEALEILSN ESESKVQSFL ASLDGEKLEL LKNDLISIKD IFAAKELENE ENQEEQGLEE
KGEEFARMLT ELLFELHVAA TPDKLNKAMK RAHDWVEEDQ TVVSVDVAKV SEEETKKEEK
EEKSQDPQED KKEEKKTKTI EEVYMSSIES LAEVTARCIE QLHKVAELIL HGQEEEKPAQ
DQAKVLIKLT TAMCNEVASL SKKFTNSLTT VGSNKKAEVL NPMISSVLLE GCNSTTYIQD
AFQLLLPVLQ VSHIQTSCLK AQP*
mutated AA sequence MSDDAGDTLA TGDKAEVTEM PNSDSLPEDA EVHCDSAAVS HEPTPADPRG EGHENAAVQG
AGAAAIGPPV QPQDANALEP PLNRDVTEDT LAECIDSVSL EAEPRSEIPL QEQNYLAVDS
PPSGGGWAGW GSWGKSLLSS ASATVGHGLT AVKEKAGATL RIHGVNSGSS EGAQPNTENG
VPEITDAATD QGPAESPPTS PSSASRGMLS AITNVVQNTG KSVLTGGLDA LEFIGKKTMN
VLAESDPGFK RTKTLMERTV SLSQMLREAK EKEKQRLAQQ LTMERTAHYG MLFDEYQGLS
HLEALEILSN ESESKVQSFL ASLDGEKLEL LKNDLISIKD IFAAKELENE ENQEEQGLEE
KGEEFARMLT ELLFELHVAA TPDKLNKAMK RAHDWVEEDQ TVVSVDVAKV SEEETKKEEK
EEKSQDPQED KKEEKKTKTI EEVYMSSIES LAEVTARCIE QLHKVAELIL HGQEEEKPAQ
DQAKVLIKLT TAMCNEVASL SKKFTNSLTT VGSNKKAEVL NPMISSVLLE GCNSTTYIQD
AFQLLLPVLQ VSHIQTSCLK AQP*
speed 0.69 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