Special

HsaEX0044356 @ hg19

Exon Skipping

Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134064440-134074402:+
Coord C1 exon
chr9:134064440-134064518
Coord A exon
chr9:134067595-134067679
Coord C2 exon
chr9:134072603-134074402
Length
85 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTCCATAATTTCAGGGA
3' ss Score
10.02
5' ss Seq
AGGGTCAGT
5' ss Score
5.85
Exon sequences
Seq C1 exon
GGGTCTCTAATAAATTCCCTTAAGCCATCTGGGCCTACACCAGCATCCGGTCAGTTATCATCTGGTGACAAAGCTTCAG
Seq A exon
GGACAGCCAAGATAGAAACAGCTGTGACTTCAACCCCATCTGCTTCTGGGCAGTTCAGCAAGCCTTTCTCATTTTCTCCATCAGG
Seq C2 exon
GGGCAACACCCTCCACTAAAGAGTCAAGCCAGCCGGACGCATTCTCATCTGGTGGGGGAAGCAAACCTTCTTATGAGGCCATTCCTGAAAGCTCACCTCCCTCAGGAATCACATCCGCATCAAACACCACCCCAGGAGAACCTGCCGCATCTAGCAGCAGACCTGTGGCACCTTCTGGAACTGCTCTTTCCACCACCTCTAGTAAGCTGGAAACCCCACCGTCCAAGCTGGGAGAGCTTCTGTTTCCAAGTTCTTTGGCTGGAGAGACTCTGGGAAGTTTTTCAGGACTGCGGGTTGGCCAAGCAGATGATTCTACAAAACCAACCAATAAGGCTTCATCCACAAGCCTAACTAGTACCCAGCCAACCAAGACGTCAGGCGTGCCCTCAGGGTTTAATTTTACTGCCCCCCCGGTGTTAGGGAAGCACACGGAGCCCCCTGTGACATCCTCTGCAACCACCACCTCAGTAGCACCACCAGCAGCCACCAGCACTTCCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_MULTIEX2-4/5=3-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.793 C2=0.696
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACCAGCATCCGGTCAGTTA
R:
TCTCCTGGGGTGGTGTTTGAT
Band lengths:
182-267
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development