HsaINT0116946 @ hg38
Intron Retention
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:129006050-129006368:+
Coord C1 exon
chr9:129006050-129006123
Coord A exon
chr9:129006124-129006238
Coord C2 exon
chr9:129006239-129006368
Length
115 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
AAACCTGTGTCTCCTCCCAGGTC
3' ss Score
10.31
Exon sequences
Seq C1 exon
CTGGACAAGAAAAAGGAGCCCCTCACCCAGGCAGTGGGGCTCAGCACACAGGCAGAAGGGACCAGGACGTTAAA
Seq A exon
GTAAGTGCTCTTTCTGGGATTTGATAAGGGGCTGGGGCAGTCATGGGCCCACTGTTCTCAAGCTTGGCCAGCCTGGCCCTCTGCAGCAGTACCAAAAACCTGTGTCTCCTCCCAG
Seq C2 exon
GTCCCTCCTGATGTTTACCATGGAAAACTGCTTCTACCTGCTCATCTCTCAGGCGATGCGGTACCTTAGGGACCCGGCTGTGCACCCCCGGGACAAACAGCGGATGAAGCAGGAGCTCAGCTCTGAGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319:ENST00000372577:42
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.320 A=NA C2=0.295
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
TGGACAAGAAAAAGGAGCCCC
R:
CTCCTGCTTCATCCGCTGTTT
Band lengths:
188-303
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