HsaEX7105654 @ hg38
Exon Skipping
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128952773-128957032:+
Coord C1 exon
chr9:128952773-128952846
Coord A exon
chr9:128956350-128956434
Coord C2 exon
chr9:128956952-128957032
Length
85 bp
Sequences
Splice sites
3' ss Seq
ATTCACTGTTCTTTTTGTAGTCC
3' ss Score
7.69
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
AGTCAGATTGAGGCAGAACTGAATAAACATTGGCGGCGATTGTTAGAGGGGCTTTCTTACTACAAACCTCCCAG
Seq A exon
TCCAAGTTCAGCTGAAAAAGTGAAAGCTAATAAAGATGTAGCTTCACCATTGAAGGAACTGGGTTTAAGAATCAGCAAGTTTTTG
Seq C2 exon
GGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319-'3-9,'3-8,5-9=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.138 C2=0.000
Domain overlap (PFAM):
C1:
PF104874=Nup188=FE(2.6=100)
A:
PF104874=Nup188=FE(3.1=100)
C2:
PF104874=Nup188=FE(2.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCAGATTGAGGCAGAACTGA
R:
TACTGAGTCCCGAGTACCCCT
Band lengths:
152-237
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains