Special

HsaINT0035239 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232526184-232526674:+
Coord C1 exon
chr2:232526184-232526267
Coord A exon
chr2:232526268-232526528
Coord C2 exon
chr2:232526529-232526674
Length
261 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAGG
5' ss Score
8.37
3' ss Seq
TTGTCGCTGACCCTCCCCAGGCA
3' ss Score
6.62
Exon sequences
Seq C1 exon
GGGCAGATGCACGTCCCAGTCAGAGGGATGGGATGGAGGGGCCAGTGCTGACACTGGGGCTGCTGGCTGCCCTGGCGGTGTGTG
Seq A exon
GTAAGGGAAGACACCCTCCCCACCCTGGGGTCCCCCGTGATGCTTACCCAGGCCCCACACCGCATGGCTCCTCACTCACTCCACTCCCACTCTGCCATCTCTCCCTGTGGGGGGCCGCCTTCTGGGGTCCCCACTCCCAGGGAGTGGTTGGGTTCCCCCCTGCTCATCCCAACCTCATGGTCCAGCAGGACCTCAGGGCAGCTTCCTTCCTGAGTCCCCTGCCCAGGGCCCCATTCAGTCCTTGTCGCTGACCCTCCCCAG
Seq C2 exon
GCAGCTGGGGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTGTTTCAAGAGAAGGGCTACAACAAGGAGCTCCGGCCCGTGGCACACAAAGAGGAGAGTGTGGACGTTGCCCTGGCCCTCACACTCTCCAACCTCATCTCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902:ENST00000258385:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0293118=Neur_chan_LBD=PU(95.3=83.7),PF0293118=Neur_chan_LBD=PU(2.7=6.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGATGCACGTCCCAGTC
R:
CAGGGAGATGAGGTTGGAGAGT
Band lengths:
228-489
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