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 ENST00000310463
Genbank transcript ID NM_207310
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 marginally increased2525wt: 0.9267 / mu: 0.9382 (marginal change - not scored)wt: TAGCTGGGGCAGTGC
mu: CAGCTGGGGCAGTGC		 GCTG|gggc
Donor increased2521wt: 0.25 / mu: 0.83wt: ATCGTAGCTGGGGCA
mu: ATCGCAGCTGGGGCA		 CGTA|gctg
distance from splice site 234
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 139 / 139
chromosome 2
strand -1
last intron/exon boundary 1146
theoretical NMD boundary in CDS 957
length of CDS 1143
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 MNQTSQKKDG PSGNHLSRAS APLGARWVCI
NGVWVEPGGP SPARLKEGSS RTHRPGGKHG RLAGGSADTV RSPADSLSTS SFQSVKSISN
SGKARPQPGS FNKQDSKADV PQKADLEEEP LLHNSKLDKV PGVQGQARKE KAEASNAGAA
CMGNSQHQGR QMGAAAHPPM ILPLPLRKPT TLRQCEVLIR ELWNTNLLQT QELQHLKSLL
EGSQRPQAVP EEASFPRDQE ATHFPKVSTK SLSKKCLLLS PPVAERAILP ALKQTPKNNF
AERQKRLQAM QKRRLHRSVL *
mutated AA sequence N/A
speed 0.82 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