Special

HsaINT0035255 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic epsilon subunit [Source:HGNC Symbol;Acc:HGNC:1966]
Coordinates
chr17:4901525-4902087:-
Coord C1 exon
chr17:4901932-4902087
Coord A exon
chr17:4901626-4901931
Coord C2 exon
chr17:4901525-4901625
Length
306 bp
Sequences
Splice sites
5' ss Seq
CCGGTGGGA
5' ss Score
5.27
3' ss Seq
TCCCGGCCCTGGCTCCGCAGCTC
3' ss Score
8.33
Exon sequences
Seq C1 exon
TATTGATGGCCAGTTCGGAGTGGCCTACGACGCCAACGTGCTCGTCTACGAGGGCGGCTCCGTGACGTGGCTGCCTCCGGCCATCTACCGCAGCGTCTGCGCAGTGGAGGTCACCTACTTCCCCTTCGATTGGCAGAACTGTTCGCTTATTTTCCG
Seq A exon
GTGGGAAGAGCTACTCCGAGGCCCGGACGATTATTGTTGGGGGGGGGCCTTATGGGGCGGGGCCAACCGGGAAGCACCGCCCTCGGGGCGGGGCTTCGCGCTGGAGGCGGAGCCAGGCGTAGGCACTGGGTGGGACGCTCCAGCGCGGCCGGAGGTACAGATGGGAACAGAGGCGTGCGGGCTGGGCTTGGGTGAAGGGGTGGGCTTGGGATCGCGGCCCCGCTAGATCCCAGCTTCCAGGGCTGGGCCTGAGGCCGGGGCCCAGGTCAGAGCTTCTGGGGTGGGCTCCCGGCCCTGGCTCCGCAG
Seq C2 exon
CTCTCAGACGTACAATGCCGAAGAGGTGGAGTTCACTTTTGCCGTAGACAACGACGGCAAGACCATCAACAAGATCGACATCGACACAGAGGCCTATACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556:ENST00000293780:5
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:
PF0293118=Neur_chan_LBD=FE(24.0=100)
A:
NA
C2:
PF0293118=Neur_chan_LBD=FE(15.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGATGGCCAGTTCGGAGTG
R:
CAGTATAGGCCTCTGTGTCGA
Band lengths:
256-562
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