Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 9.93104728496714e-05 (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) chr20:1426393C>TN/A show variant in all transcripts   IGV
HGNC symbol NSFL1C
Ensembl transcript ID ENST00000350991
Genbank transcript ID N/A
UniProt peptide Q9UNZ2
alteration type single base exchange
alteration region CDS
DNA changes c.874G>A
cDNA.894G>A
g.22025G>A
AA changes D292N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 292
frameshift no
known variant Reference ID: rs9575
databasehomozygous (T/T)heterozygousallele carriers
1000G64610441690
ExAC13129650919638
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7331
1.4150.998
(flanking)0.0160.985
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22022wt: 0.41 / mu: 0.46wt: AAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACC
mu: AAGCCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACC		 ttaa|TCGA
Acc marginally increased22025wt: 0.7634 / mu: 0.8039 (marginal change - not scored)wt: CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
mu: CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA		 atcg|ACGA
Donor marginally increased22022wt: 0.9442 / mu: 0.9558 (marginal change - not scored)wt: TCTTAATCGACGAAT
mu: TCTTAATCAACGAAT		 TTAA|tcga
Donor increased22025wt: 0.28 / mu: 0.47wt: TAATCGACGAATCAG
mu: TAATCAACGAATCAG		 ATCG|acga
Donor increased22030wt: 0.72 / mu: 0.89wt: GACGAATCAGAGCCT
mu: AACGAATCAGAGCCT		 CGAA|tcag
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      292NEAKASSSILIDESEPTTNIQIRL
mutated  all conserved    292NEAKASSSILINESEPTTNI
Ptroglodytes  all identical  ENSPTRG00000013164  290NEAKASSSILIDESEPTTNI
Mmulatta  all identical  ENSMMUG00000015994  292NEAKASSSILIDESEPTTNI
Fcatus  all identical  ENSFCAG00000012845  273NEAKASSSVSIDESQPTTNIQIR
Mmusculus  all conserved  ENSMUSG00000027455  292NEAKASSSILINEAEPTTNI
Ggallus  all identical  ENSGALG00000006182  290NEAKASSAIAIDESEPVTNIQI
Trubripes  all identical  ENSTRUG00000007860  292AANEASTSVTLDYDQPLT
Drerio  all identical  ENSDARG00000087640  291SEAEASASISVDTSQPITS
Dmelanogaster  all conserved  FBgn0033179  324QEASARDAINLNSEAPSTTLQIR
Celegans  all conserved  Y94H6A.9  216DAKKELSTNMNEPTTNIQIR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
291368DOMAINUBX.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1119 / 1119
position (AA) of stopcodon in wt / mu AA sequence 373 / 373
position of stopcodon in wt / mu cDNA 1139 / 1139
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 21 / 21
chromosome 20
strand -1
last intron/exon boundary 977
theoretical NMD boundary in CDS 906
length of CDS 1119
coding sequence (CDS) position 874
cDNA position
(for ins/del: last normal base / first normal base)		 894
gDNA position
(for ins/del: last normal base / first normal base)		 22025
chromosomal position
(for ins/del: last normal base / first normal base)		 1426393
original gDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered gDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
original cDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered cDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
wildtype AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRDRFYAGG SERSGQQIVG PPRKKSPNEL
VDDLFKGAKE HGAVAVERVT KSPGETSKPR PFAGGGYRLG AAPEEESAYV AGEKRQHSSQ
DVHVVLKLWK SGFSLDNGEL RSYQDPSNAQ FLESIRRGEV PAELRRLAHG GQVNLDMEDH
RDEDFVKPKG AFKAFTGEGQ KLGSTAPQVL STSSPAQQAE NEAKASSSIL IDESEPTTNI
QIRLADGGRL VQKFNHSHRI SDIRLFIVDA RPAMAATSFI LMTTFPNKEL ADESQTLKEA
NLLNAVIVQR LT*
mutated AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRDRFYAGG SERSGQQIVG PPRKKSPNEL
VDDLFKGAKE HGAVAVERVT KSPGETSKPR PFAGGGYRLG AAPEEESAYV AGEKRQHSSQ
DVHVVLKLWK SGFSLDNGEL RSYQDPSNAQ FLESIRRGEV PAELRRLAHG GQVNLDMEDH
RDEDFVKPKG AFKAFTGEGQ KLGSTAPQVL STSSPAQQAE NEAKASSSIL INESEPTTNI
QIRLADGGRL VQKFNHSHRI SDIRLFIVDA RPAMAATSFI LMTTFPNKEL ADESQTLKEA
NLLNAVIVQR LT*
speed 0.72 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