HsaINT0035252 @ hg38
Intron Retention
Gene
ENSG00000108556 | CHRNE
Description
cholinergic receptor nicotinic epsilon subunit [Source:HGNC Symbol;Acc:HGNC:1966]
Coordinates
chr17:4902450-4902763:-
Coord C1 exon
chr17:4902621-4902763
Coord A exon
chr17:4902495-4902620
Coord C2 exon
chr17:4902450-4902494
Length
126 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGC
5' ss Score
8.69
3' ss Seq
TCCCCATCTCCCATCTGCAGAAT
3' ss Score
10.86
Exon sequences
Seq C1 exon
GCAGGGGTGTGGGGAAGAACGAGGAACTGCGTCTTTATCACCATCTCTTCAACAACTATGACCCAGGAAGCCGGCCAGTGCGGGAGCCTGAGGATACTGTCACCATCAGCCTCAAGGTCACCCTGACGAATCTCATCTCACTG
Seq A exon
GTAAGCTACCCCCACCCTCATCTTAAGCCAAAAATCCCACTTCTGGCCCCAACCGCTGAGCTCTGTCCTAAAGCTCACTTCTGGCCCTGAAATCTCACTTCAATCATCCCCATCTCCCATCTGCAG
Seq C2 exon
AATGAAAAAGAGGAGACTCTCACCACTAGCGTCTGGATTGGAATC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556:ENST00000293780:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.042 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PU(18.0=81.2)
A:
NA
C2:
PF0293118=Neur_chan_LBD=FE(6.5=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:
GCAGGGGTGTGGGGAAGAA
R:
TTCCAATCCAGACGCTAGTGG
Band lengths:
186-312
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