HsaEX6063376 @ hg38
Exon Skipping
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128987589-128990226:+
Coord C1 exon
chr9:128987589-128987717
Coord A exon
chr9:128988047-128988186
Coord C2 exon
chr9:128990120-128990226
Length
140 bp
Sequences
Splice sites
3' ss Seq
GTTTCCATTTGGCACCCTAGTGA
3' ss Score
3.87
5' ss Seq
ATGGTATGT
5' ss Score
8.35
Exon sequences
Seq C1 exon
TCATACTCCCAGCCTGCAGTTTCTCTGCATCTGCAGCCTGGCATACACAGAAGCAGGACAGACAGTTATCAATATCATGGGCATTGGCGTGGACACCATTGACATGGTGATGGCTGCTCAGCCTCGAAG
Seq A exon
TGATGGGGCAGAGGGCCAGGGGCAGGGCCAGCTGCTGATCAAGACAGTGAAACTGGCATTCTCCGTCACCAACAATGTTATTCGGCTGAAACCTCCTTCTAATGTGGTGTCCCCCCTGGAACAGGCTCTCTCACAACATG
Seq C2 exon
GTGCTCATGGAAACAACCTCATTGCTGTTCTAGCCAAATACATCTACCACAAACATGACCCTGCTTTGCCACGTCTTGCCATTCAGCTGCTGAAACGTCTGGCCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319-'34-48,'34-46,35-48
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=0.000
Domain overlap (PFAM):
C1:
PF104874=Nup188=FE(4.7=100),PF118943=DUF3414=FE(8.7=100)
A:
PF104874=Nup188=FE(5.1=100),PF118943=DUF3414=FE(9.5=100)
C2:
PF104874=Nup188=FE(3.8=100),PF118943=DUF3414=FE(7.1=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:
TCATACTCCCAGCCTGCAGTT
R:
GTGGCCAGACGTTTCAGCAG
Band lengths:
235-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains