HsaEX6063570 @ hg19
Exon Skipping
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134103547-134106156:+
Coord C1 exon
chr9:134103547-134103718
Coord A exon
chr9:134105050-134105212
Coord C2 exon
chr9:134106017-134106156
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-'42-47,'42-46,43-47=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.386 A=0.455 C2=0.198
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
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)