HsaEX0044356 @ hg38
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131189053-131195294:+
Coord C1 exon
chr9:131189053-131189131
Coord A exon
chr9:131192208-131192292
Coord C2 exon
chr9:131195233-131195294
Length
85 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTCCATAATTTCAGGGA
3' ss Score
10.02
5' ss Seq
AGGGTCAGT
5' ss Score
5.85
Exon sequences
Seq C1 exon
GGGTCTCTAATAAATTCCCTTAAGCCATCTGGGCCTACACCAGCATCCGGTCAGTTATCATCTGGTGACAAAGCTTCAG
Seq A exon
GGACAGCCAAGATAGAAACAGCTGTGACTTCAACCCCATCTGCTTCTGGGCAGTTCAGCAAGCCTTTCTCATTTTCTCCATCAGG
Seq C2 exon
GACTGGCTTTAATTTTGGGATAATCACACCAACACCGTCTTCTAATTTCACTGCTGCACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883-'60-81,'60-77,67-81
Average complexity
C1
Mappability confidence:
94%=90=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.990 A=0.763 C2=0.778
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGTCTCTAATAAATTCCCTTAAGCC
R:
GCAGCAGTGAAATTAGAAGACGG
Band lengths:
136-221
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