HsaEX0044309 @ hg38
Exon Skipping
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128998538-128999805:+
Coord C1 exon
chr9:128998538-128998623
Coord A exon
chr9:128999172-128999317
Coord C2 exon
chr9:128999624-128999805
Length
146 bp
Sequences
Splice sites
3' ss Seq
CCACCCAGTATTCTTTCTAGAGA
3' ss Score
3.12
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
CTCCTAGTTCCAGCCTCAGTGAACTGCCTTCGCCTTGGCTCCATGAAGTGCACTCTGCTGCTTATCCTCCTCCGGCAGTGGAAGAG
Seq A exon
AGAGTTAGGTTCTGTGGATGAAATCCTTGGACCCTTGACGGAGATCCTGGAGGGAGTGCTGCAGGCCGACCAGCAACTCATGGAGAAGACCAAGGCCAAGGTGTTCTCAGCATTCATCACAGTGTTGCAAATGAAGGAGATGAAAG
Seq C2 exon
TAAGTGACATCCCCCAGTACTCCCAGCTGGTGCTGAATGTCTGTGAGACCCTCCAAGAGGAAGTGATTGCACTCTTCGACCAGACCCGCCACAGTCTGGCATTAGGCAGTGCCACAGAGGACAAGGACAGCATGGAGACTGACGACTGTTCTCGGTCCCGGCACAGGGACCAGCGTGATGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319_MULTIEX2-2/2=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.213
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCTAGTTCCAGCCTCAGTGA
R:
ACCGAGAACAGTCGTCAGTCT
Band lengths:
242-388
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development