HsaEX0044351 @ hg38
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131134898-131140710:+
Coord C1 exon
chr9:131134898-131135004
Coord A exon
chr9:131135940-131136006
Coord C2 exon
chr9:131140549-131140710
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_MULTIEX2-1/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.004 C2=0.371
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:
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