Special

HsaEX0044346 @ hg19

Exon Skipping

Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134072603-134090755:+
Coord C1 exon
chr9:134072603-134074402
Coord A exon
chr9:134077034-134077104
Coord C2 exon
chr9:134090599-134090755
Length
71 bp
Sequences
Splice sites
3' ss Seq
GTTTTCTTTGTATTTTACAGGTT
3' ss Score
11.93
5' ss Seq
CAGGTAAAT
5' ss Score
8.76
Exon sequences
Seq C1 exon
TGGGCAAGTGGCAGCCAGCACCGCACCAAGTCTGTTTGGGCAGCAGACTGGTAGCACAGCCAGCACAGCAGCTGCCACACCACAGGTCAGCAGCTCAGGGTTTAGCAGCCCAGCTTTTGGTACCACAGCCCCAGGGGTCTTTGGACAGACAACCTTCGGGCAGGCCTCAGTCTTTGGGCAGTCGGCGAGCAGTGCTGCAAGTGTCTTTTCCTTCAGTCAGCCTGGGTTCAGTTCCGTGCCTGCCTTCGGTCAGCCTGCTTCCTCCACTCCCACATCCACCAGTGGAAGTGTCTTTGGTGCCGCCTCAAGTACCAGTAGCTCCAGTTCCTTCTCATTTGGACAGTCTTCTCCCAACACAGGAGGGGGGCTGTTTGGCCAAAGCAACGCTCCTGCTTTTGGGCAGAGTCCTGGCTTTGGACAGGGAGGCTCTGTCTTTGGTGGTACCTCAGCTGCCACCACAACAGCAGCAACCTCTGGGTTCAGCTTTTGCCAAGCTTCAG
Seq A exon
GTTTTGGGTCTAGTAATACTGGTTCTGTGTTTGGTCAAGCAGCCAGTACTGGTGGAATAGTCTTTGGCCAG
Seq C2 exon
CAATCATCCTCTTCCAGTGGTAGCGTGTTTGGGTCTGGAAACACTGGAAGAGGGGGAGGTTTCTTCAGTGGCCTTGGAGGAAAACCCAGTCAGGATGCAGCCAACAAAAACCCATTCAGCTCGGCCAGTGGGGGCTTTGGATCCACAGCTACCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883-'38-40,'38-39,39-40
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.696 A=0.042 C2=0.547
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTTGGTGGTACCTCAGCTGC
R:
GGGTTTTTGTTGGCTGCATCC
Band lengths:
181-252
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development