Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999924153233 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:130900188A>GN/A show variant in all transcripts   IGV
HGNC symbol CCDC74B
Ensembl transcript ID ENST00000409488
Genbank transcript ID N/A
UniProt peptide Q96LY2
alteration type single base exchange
alteration region intron
DNA changes g.2520T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs28743163
databasehomozygous (G/G)heterozygousallele carriers
1000G67111911862
ExAC124634814727
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2690.001
-0.9550
(flanking)-2.3720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased2521wt: 0.25 / mu: 0.83wt: ATCGTAGCTGGGGCA
mu: ATCGCAGCTGGGGCA		 CGTA|gctg
Donor marginally increased2525wt: 0.9267 / mu: 0.9382 (marginal change - not scored)wt: TAGCTGGGGCAGTGC
mu: CAGCTGGGGCAGTGC		 GCTG|gggc
distance from splice site 432
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 76 / 76
chromosome 2
strand -1
last intron/exon boundary 776
theoretical NMD boundary in CDS 650
length of CDS 738
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 2520
chromosomal position
(for ins/del: last normal base / first normal base)		 130900188
original gDNA sequence snippet GAGCCAGCCTGGGAACATCGTAGCTGGGGCAGTGCCTAGGG
altered gDNA sequence snippet GAGCCAGCCTGGGAACATCGCAGCTGGGGCAGTGCCTAGGG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSGAGVAAGT RPPSSPTPGS RRRRQRPSVG VQSLRPQSPQ LRQSDPQKRN LDLEKSLQFL
QQQHSEMLAK LHEEIEHLKR ENKDLRYKLI MNQTSQKKDS LSTSSFQSVK SISNSANSQG
KARPQPGSFN KQDSKADVPQ KADLEEEPLL HNSKLDKVPG VQGQASPPHL GSAKCSSASC
GIPTSCRPKS CSTSSPSWKG ARGPRQSRRK LAFPGTKKPR ISPRSPPRAS PRNAHLWRSV
PSCPH*
mutated AA sequence N/A
speed 1.00 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