HsaINT0116923 @ hg38
Intron Retention
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128986558-128986875:+
Coord C1 exon
chr9:128986558-128986678
Coord A exon
chr9:128986679-128986808
Coord C2 exon
chr9:128986809-128986875
Length
130 bp
Sequences
Splice sites
5' ss Seq
TTGGTAAGG
5' ss Score
8.92
3' ss Seq
CTGTCTTTTCTGGAGTCCAGGTT
3' ss Score
2.79
Exon sequences
Seq C1 exon
GGGCAACTTGGTAGTACCCAGAGCCAAGGACTTGTACCCTGTGTAATGTTTGTGCTGAAGGAGATGCTTCCCAGCTACCATAAGTGGCGCTACAACTCTCATGGAGTGAGGGAACAGATTG
Seq A exon
GTAAGGACAGCATGGGCAGGGAAGACCTGGGGATTTCTGGCCCCACTGGAGAGCTTTTTTCTTTCCCTTTCTTGAGATAAGGGGTCATTTCACAAGGCCACATCATTCCTCTGTCTTTTCTGGAGTCCAG
Seq C2 exon
GTTGCCTGATCTTGGAGCTGATTCATGCGATACTGAACCTGTGCCACGAGACAGACCTGCACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319:ENST00000372577:21
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF104874=Nup188=FE(4.4=100),PF118943=DUF3414=FE(8.1=100)
A:
NA
C2:
PF104874=Nup188=FE(2.4=100),PF118943=DUF3414=FE(4.4=100)
Main Inclusion 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:
GGGCAACTTGGTAGTACCCAG
R:
GCTGTGCAGGTCTGTCTCG
Band lengths:
186-316
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development