Special

HsaINT0035250 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic epsilon subunit [Source:HGNC Symbol;Acc:HGNC:1966]
Coordinates
chr17:4899001-4899384:-
Coord C1 exon
chr17:4899198-4899384
Coord A exon
chr17:4899108-4899197
Coord C2 exon
chr17:4899001-4899107
Length
90 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGC
5' ss Score
8.19
3' ss Seq
CCCGGTGTTTTCCCCGCCAGCTG
3' ss Score
9.23
Exon sequences
Seq C1 exon
GTTCTCCTGGAGCTGCTGCCGCGCCTCCTGGGCTCCCCGCCGCCGCCCGAGGCCCCCCGGGCCGCCTCGCCCCCAAGGCGGGCGTCGTCGGTGGGCTTATTGCTCCGCGCGGAGGAGCTGATACTGAAAAAGCCACGGAGCGAGCTCGTGTTTGAGGGGCAGAGGCACCGGCAGGGGACCTGGACGG
Seq A exon
GTGAGCACAGTGGCCCTGGCCCGGGGGGCCGCGCGGGGTGCCTGCCAGGGGGGAGGCTCCTAAGGCCCACCCCGGTGTTTTCCCCGCCAG
Seq C2 exon
CTGCCTTCTGCCAGAGCCTGGGCGCCGCCGCCCCCGAGGTCCGCTGCTGTGTGGATGCCGTGAACTTCGTGGCCGAGAGCACGAGAGATCAGGAGGCCACCGGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556:ENST00000293780:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.175 A=NA C2=0.056
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(27.2=100)
A:
NA
C2:
PF0293211=Neur_chan_memb=FE(15.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCGGAGGAGCTGATACTGAA
R:
TCCTGATCTCTCGTGCTCTCG
Band lengths:
174-264
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