Special

HsaINT0035245 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232528501-232528971:+
Coord C1 exon
chr2:232528501-232528656
Coord A exon
chr2:232528657-232528861
Coord C2 exon
chr2:232528862-232528971
Length
205 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGC
5' ss Score
6.46
3' ss Seq
CTGCCCATTGCCCTCCCCAGTTC
3' ss Score
6.98
Exon sequences
Seq C1 exon
CAATGACGGCTCCTTCCAGATCTCCTACTCCTGCAACGTGCTTGTCTACCACTACGGCTTCGTGTACTGGCTGCCACCTGCCATCTTCCGCTCCTCCTGCCCCATCTCTGTCACCTATTTCCCCTTCGACTGGCAGAACTGCTCCCTCAAGTTCAG
Seq A exon
GTGTGCCCTTTTCTCCAGCCACCCCTCACCCCAAAGCACCCTGCCAGAGGCCAAAGAAGGTGACTGAAGCACCCTCAGACAGAGGCCCCTGCCCTGTCTGGATTAGTGCTGCCCTCCCCACAATGGTCCTCCCTTACCAGCCCTTCCCCACTCTGTGGCCCCAGCCACTGGCCGAGTGTCACTCTCTGCCCATTGCCCTCCCCAG
Seq C2 exon
TTCCCTCAAGTATACGGCCAAAGAGATCACCCTGAGCCTGAAACAGGATGCCAAGGAGAACCGCACCTACCCCGTGGAGTGGATCATCATTGATCCTGAAGGCTTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902:ENST00000258385:5
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(23.4=100)
A:
NA
C2:
PF0293118=Neur_chan_LBD=FE(16.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGACGGCTCCTTCCAGATCTC
R:
TGTGAAGCCTTCAGGATCAATGA
Band lengths:
262-467
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