HsaEX6063572 @ hg38
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131215212-131228331:+
Coord C1 exon
chr9:131215212-131215368
Coord A exon
chr9:131222778-131222930
Coord C2 exon
chr9:131228160-131228331
Length
153 bp
Sequences
Splice sites
3' ss Seq
TCACATCTTCATCTCTTCAGATA
3' ss Score
9.1
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
CAATCATCCTCTTCCAGTGGTAGCGTGTTTGGGTCTGGAAACACTGGAAGAGGGGGAGGTTTCTTCAGTGGCCTTGGAGGAAAACCCAGTCAGGATGCAGCCAACAAAAACCCATTCAGCTCGGCCAGTGGGGGCTTTGGATCCACAGCTACCTCAA
Seq A exon
ATACCTCTAACCTATTTGGAAACAGTGGGGCCAAGACATTTGGTGGATTTGCCAGCTCGTCGTTTGGAGAGCAGAAACCCACTGGCACTTTCAGCTCTGGAGGAGGAAGTGTGGCATCCCAAGGCTTTGGGTTTTCCTCTCCAAACAAAACAG
Seq C2 exon
GTGGCTTCGGTGCTGCTCCAGTGTTTGGCAGCCCTCCTACTTTTGGGGGATCCCCTGGGTTTGGAGGGGTGCCAGCATTCGGTTCAGCCCCAGCCTTTACAAGCCCTCTGGGCTCGACGGGAGGCAAAGTGTTCGGAGAGGGCACTGCAGCTGCCAGCGCAGGAGGATTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883-'87-105,'87-101,94-105
Average complexity
S
Mappability confidence:
94%=100=86%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.535 A=0.241 C2=0.326
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:
ACTGGAAGAGGGGGAGGTTTC
R:
CTCTCCGAACACTTTGCCTCC
Band lengths:
255-408
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains