Special

HsaEX0044357 @ hg38

Exon Skipping

Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131192208-131199015:+
Coord C1 exon
chr9:131192208-131192292
Coord A exon
chr9:131195233-131195294
Coord C2 exon
chr9:131197216-131199015
Length
62 bp
Sequences
Splice sites
3' ss Seq
TCTCTTTTTCCACTTGTTAGGAC
3' ss Score
6.99
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
GGACAGCCAAGATAGAAACAGCTGTGACTTCAACCCCATCTGCTTCTGGGCAGTTCAGCAAGCCTTTCTCATTTTCTCCATCAGG
Seq A exon
GACTGGCTTTAATTTTGGGATAATCACACCAACACCGTCTTCTAATTTCACTGCTGCACAAG
Seq C2 exon
GGGCAACACCCTCCACTAAAGAGTCAAGCCAGCCGGACGCATTCTCATCTGGTGGGGGAAGCAAACCTTCTTATGAGGCCATTCCTGAAAGCTCACCTCCCTCAGGAATCACATCCGCATCAAACACCACCCCAGGAGAACCTGCCGCATCTAGCAGCAGACCTGTGGCACCTTCTGGAACTGCTCTTTCCACCACCTCTAGTAAGCTGGAAACCCCACCGTCCAAGCTGGGAGAGCTTCTGTTTCCAAGTTCTTTGGCTGGAGAGACTCTGGGAAGTTTTTCAGGACTGCGGGTTGGCCAAGCAGATGATTCTACAAAACCAACCAATAAGGCTTCATCCACAAGCCTAACTAGTACCCAGCCAACCAAGACGTCAGGCGTGCCCTCAGGGTTTAATTTTACTGCCCCCCCGGTGTTAGGGAAGCACACGGAGCCCCCTGTGACATCCTCTGCAACCACCACCTCAGTAGCACCACCAGCAGCCACCAGCACTTCCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_MULTIEX4-7/7=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.763 A=0.778 C2=0.697
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCAGTTCAGCAAGCCTTTCT
R:
GATTCCTGAGGGAGGTGAGCT
Band lengths:
147-209
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