HsaEX0044345 @ hg38
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131178311-131187364:+
Coord C1 exon
chr9:131178311-131178410
Coord A exon
chr9:131186732-131186930
Coord C2 exon
chr9:131187289-131187364
Length
199 bp
Sequences
Splice sites
3' ss Seq
AGAGCTCTTTCTGCGAATAGGGG
3' ss Score
3.94
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
CTGTAAACACTTTGACTGAATCAACGTTGAAGAATGTCCCTCAAGTGGTAAATGTGCAGGAATTGAAGAATAACCCTGCAACCCCTTCTACAGCCATGGG
Seq A exon
GGGTATACTTTTCATGCTGTAGCAAAGATGCAGGTTGGGAATGGAACAGTGGTACATTTGAATCCCTTGGATGCTGACCTGGTGAGCCCTGGAGATAGCTGCTGTGAGAAGCTAAGATCTCTTTGGATAGCACCTTTGCGGTAGCAGCGAATTGGATGCATAGGTGGCAGTGAGAATGCTTCCCATAGAGCCTGCTTGG
Seq C2 exon
TTCTTCAGTGCCCTACTCCACAGCCAAAACACCTCACCCAGTGTTGACCCCAGTGGCTGCTAACCAAGCCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_MULTIEX4-2/7=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.971 A=0.000 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000359428fB4828
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
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:
ACACTTTGACTGAATCAACGTTGA
R:
CTTGGTTAGCAGCCACTGGG
Band lengths:
162-361
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