HsaEX6063570 @ hg38
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131228160-131230769:+
Coord C1 exon
chr9:131228160-131228331
Coord A exon
chr9:131229663-131229825
Coord C2 exon
chr9:131230630-131230769
Length
163 bp
Sequences
Splice sites
3' ss Seq
AGCCCATTACCTTCTTCCAGGTC
3' ss Score
8.64
5' ss Seq
AAAGTGAAT
5' ss Score
0.76
Exon sequences
Seq C1 exon
GTGGCTTCGGTGCTGCTCCAGTGTTTGGCAGCCCTCCTACTTTTGGGGGATCCCCTGGGTTTGGAGGGGTGCCAGCATTCGGTTCAGCCCCAGCCTTTACAAGCCCTCTGGGCTCGACGGGAGGCAAAGTGTTCGGAGAGGGCACTGCAGCTGCCAGCGCAGGAGGATTCGG
Seq A exon
GTCCCTGGCCATGAGCCTGTCTCCGACCCTGAAGGGCAGGCTGTTGCTGATGAGGCCCAAGGCAGGAGGAGGAAGGGAGCAGGCCGCTCCTGGGAGAAAGTCCAATGAGAGCAGATCCCTTGGCCACCTTTGTATGGAAAGAGCCTTGACCTCACCATTAAAA
Seq C2 exon
GTTTGGGAGCAGCAGCAACACCACATCCTTCGGCACGCTCGCGAGTCAGAATGCCCCCACTTTCGGATCACTGTCCCAACAGACTTCTGGTTTTGGGACCCAGAGTAGCGGATTCTCTGGTTTTGGATCAGGCACAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_MULTIEX1-3/6=2-4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.326 A=0.455 C2=0.230
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
GTTTGGCAGCCCTCCTACTTT
R:
ACTCTGGGTCCCAAAACCAGA
Band lengths:
256-419
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains