HsaINT0116931 @ hg38
Intron Retention
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128994856-128995514:+
Coord C1 exon
chr9:128994856-128994923
Coord A exon
chr9:128994924-128995318
Coord C2 exon
chr9:128995319-128995514
Length
395 bp
Sequences
Splice sites
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
3' ss Seq
GTTTTTTCTTGACACTGTAGGGG
3' ss Score
6.28
Exon sequences
Seq C1 exon
CCCAGCATCCTGGAAACCTGTGCCCTAATCATGAAGATAATTTGCTTGGAGATATACTATGTAGTAAA
Seq A exon
GTGAGTACTTTCCCCTCTTGAGATTTTAACTGAAGGTTGGGGGAGTGGGAGTTGGTGGCCTACCACTGGGTGCATGGCTGGAAGAGCCAAGGCAGAGGAGAGAACTGGTTTGGAACCATTCATGGAAGGCCAGTGAGCTGTGTTCCTGGCCAATCCACCGATGGCATTTATGATTGTCAGAAAGAGTTATTGTGAAGCAAACTCCATGCAACTGGGATTTTATGGAGGAGGAATCCTGGAAAGGCCTCAGCCTAACCCACACGTTGGAGGTGTCCTGGAGCCGTCTGCCTTTAAGCCCATGCAAGGTCGTTTTCTCTGCCTCAACAAGGGTCTGTACCCATTATATTCCCATCTGCTTTCAAAATCTAACTGGAGGTTTTTTCTTGACACTGTAG
Seq C2 exon
GGGTTCATTAGACCAGTCATTAAAGGATACACTGAAGAAATTTTCCATCGAGAAACGCTTTGCCTACTGGTCAGGGTATGTCAAGTCATTGGCAGTTCACGTGGCCGAAACAGAAGGCAGCAGCTGCACCTCCTTGTTAGAGTACCAGATGCTGGTGTCCGCCTGGAGGATGCTTCTCATCATTGCCACCACTCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319:ENST00000372577:29
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:
PF118943=DUF3414=FE(4.4=100)
A:
NA
C2:
PF118943=DUF3414=PD(1.4=10.6)
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:
CAGCATCCTGGAAACCTGTGC
R:
ATGAGTGGTGGCAATGATGAGA
Band lengths:
262-657
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development