HsaEX0044301 @ hg38
Exon Skipping
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128984900-128987717:+
Coord C1 exon
chr9:128984900-128985014
Coord A exon
chr9:128986558-128986678
Coord C2 exon
chr9:128987589-128987717
Length
121 bp
Sequences
Splice sites
3' ss Seq
CACTGCATGGTTTCTTGTAGGGG
3' ss Score
6.05
5' ss Seq
TTGGTAAGG
5' ss Score
8.92
Exon sequences
Seq C1 exon
TGCGGAAGGGATGAATGCTGGAGGGTACGGAAACCTCTTGATGAACAGTGAACAGCCTCAGGGCGAGTATGGGGTTACTATTGCCTTTCTGCGCTTGATCACCACCCTTGTCAAG
Seq A exon
GGGCAACTTGGTAGTACCCAGAGCCAAGGACTTGTACCCTGTGTAATGTTTGTGCTGAAGGAGATGCTTCCCAGCTACCATAAGTGGCGCTACAACTCTCATGGAGTGAGGGAACAGATTG
Seq C2 exon
TCATACTCCCAGCCTGCAGTTTCTCTGCATCTGCAGCCTGGCATACACAGAAGCAGGACAGACAGTTATCAATATCATGGGCATTGGCGTGGACACCATTGACATGGTGATGGCTGCTCAGCCTCGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319_MULTIEX1-1/3=C1-3
Average complexity
C3
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=0.000
Domain overlap (PFAM):
C1:
PF104874=Nup188=FE(4.1=100),PF118943=DUF3414=FE(7.7=100)
A:
PF104874=Nup188=FE(4.4=100),PF118943=DUF3414=FE(8.1=100)
C2:
PF104874=Nup188=FE(4.7=100),PF118943=DUF3414=FE(8.7=100)
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:
CGGAAGGGATGAATGCTGGAG
R:
CTGAGCAGCCATCACCATGTC
Band lengths:
234-355
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