Special

HsaEX6063572 @ hg19

Exon Skipping

Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134090599-134103718:+
Coord C1 exon
chr9:134090599-134090755
Coord A exon
chr9:134098165-134098317
Coord C2 exon
chr9:134103547-134103718
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-'40-42,'40-41,41-42=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.547 A=0.250 C2=0.386
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
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