HsaEX0044347 @ hg38
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131129279-131132659:+
Coord C1 exon
chr9:131129279-131129477
Coord A exon
chr9:131130766-131130836
Coord C2 exon
chr9:131132596-131132659
Length
71 bp
Sequences
Splice sites
3' ss Seq
GTAATACTGTCTTTGCTCAGTGT
3' ss Score
6.48
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GCTAAACAGCAAAAACGCCCATTTGCCTATCATAAGCTTTTGAAAGATGCAGGAGGCATGGTGATTGATATGAAGTGGAACCCCACTGTCCCCTCCATGGTGGCAGTTTGTCTGGCTGATGGTAGTATTGCTGTCCTGCAAGTCACGGAAACAGTGAAAGTATGTGCAACTCTTCCTTCCACGGTAGCAGTAACCTCTG
Seq A exon
TGTGCTGGAGCCCCAAAGGAAAGCAGCTGGCAGTGGGAAAACAGAATGGAACTGTGGTCCAGTATCTTCCT
Seq C2 exon
ACTTTGCAGGAAAAAAAAGTCATTCCTTGTCCTCCGTTTTATGAGTCAGATCATCCTGTCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCATGGTGGCAGTTTGTCTG
R:
CTCTGACAGGATGATCTGACTCA
Band lengths:
170-241
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