HsaEX6063571 @ hg38
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131222778-131234670:+
Coord C1 exon
chr9:131222778-131222930
Coord A exon
chr9:131228160-131228331
Coord C2 exon
chr9:131233563-131234670
Length
172 bp
Sequences
Splice sites
3' ss Seq
TTTGCCTCTGTTTTGCTCAGGTG
3' ss Score
9.28
5' ss Seq
CGGGTAAGC
5' ss Score
9.14
Exon sequences
Seq C1 exon
ATACCTCTAACCTATTTGGAAACAGTGGGGCCAAGACATTTGGTGGATTTGCCAGCTCGTCGTTTGGAGAGCAGAAACCCACTGGCACTTTCAGCTCTGGAGGAGGAAGTGTGGCATCCCAAGGCTTTGGGTTTTCCTCTCCAAACAAAACAG
Seq A exon
GTGGCTTCGGTGCTGCTCCAGTGTTTGGCAGCCCTCCTACTTTTGGGGGATCCCCTGGGTTTGGAGGGGTGCCAGCATTCGGTTCAGCCCCAGCCTTTACAAGCCCTCTGGGCTCGACGGGAGGCAAAGTGTTCGGAGAGGGCACTGCAGCTGCCAGCGCAGGAGGATTCGG
Seq C2 exon
GCTGTTCAGACCGACGTTGCCATCAAAACACATACACCCAGAAAGAAACAACAGAAACCAAAACTCACAAGGCGCATGATTACTTGTTTTATATTTCATGTTGGGTTTTCCCTCCCACTATTAAACAGTCTGTTTCCGTACAGAACGTATGTGGGTTTTTTCAGATCACAGCCAAGAAGATTGCCCCGTTTCTGTGGCTCTGAGAAGCCAGCAGAGCCTCCATCAGCCAGAACACTGTGTCTTCAAGGATGGCATCAGAAGTCACCAGCGTCGGGTGTTGATAAACAGCATCGAATGTGCCGTGGTCTCACTTGGACCTAGCGCCCTCCACATAGGGAAGAGGTTGAATGCTGGTGGGTCATCTTTTTGAGGCTGAAACTTGGTTATCTCCTCTCCTTGTTCTTTTAGCCATTGTGTATCAGGACCATCCAAGGACGCACTCTGCGATTGAGTGGAGGCAGAGGAAGCCACTCATGCCAGCAGCAGTTGAGTTTCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_MULTIEX1-2/6=C1-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.241 A=0.326 C2=0.091
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGAAGTGTGGCATCCCAAG
R:
CCACAGAAACGGGGCAATCTT
Band lengths:
248-420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains