Special

HsaEX0044351 @ hg19

Exon Skipping

Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134010285-134016097:+
Coord C1 exon
chr9:134010285-134010391
Coord A exon
chr9:134011327-134011393
Coord C2 exon
chr9:134015936-134016097
Length
67 bp
Sequences
Splice sites
3' ss Seq
CTCTGGTTTTATTCTTTAAGGGA
3' ss Score
7.44
5' ss Seq
CAGGTAAAT
5' ss Score
8.76
Exon sequences
Seq C1 exon
AAAAAAGAAGAAAAGCACCCAGAGATATTTGTGAACTTTATGGAGCCCTGTTATGGCAGCTGCACGGAGAGACAGCATCATTACTACCTCAGTTACATTGAGGAATG
Seq A exon
GGATTTAGTGCTGGCAGCATCTGCGGCTTCAACAGAAGTTAGTATCCTTGCTCGACAAAGTGATCAG
Seq C2 exon
GTGATGAAAAGACTCTTCCTCCTGCTCCAGTTCTCATGTTACTTTCAACAGATGGTGTGCTTTGTCCATTTTATATGATTAATCAAAATCCTGGGGTTAAGTCTCTCATCAAAACACCAGAGCGACTTTCATTAGAAGGAGAGCGACAGCCCAAGTCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_MULTIEX1-1/2=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.364
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
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACGGAGAGACAGCATCATT
R:
AGTCGCTCTGGTGTTTTGATGA
Band lengths:
173-240
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