Special

HsaINT0035240 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232533931-232534342:+
Coord C1 exon
chr2:232533931-232534135
Coord A exon
chr2:232534136-232534223
Coord C2 exon
chr2:232534224-232534342
Length
88 bp
Sequences
Splice sites
5' ss Seq
CACGTGGGT
5' ss Score
4.46
3' ss Seq
CTCTGGCCCCTCGTCTGTAGGCC
3' ss Score
8.58
Exon sequences
Seq C1 exon
CTCTTCCTGGAGACCCTGCCGGAGCTCCTGCACATGTCCCGCCCAGCAGAGGATGGACCCAGCCCTGGGGCCCTGGTGCGGAGGAGCAGCTCCCTGGGATACATCTCCAAGGCCGAGGAGTACTTCCTGCTCAAGTCCCGCAGTGACCTCATGTTCGAGAAGCAGTCAGAGCGGCATGGGCTGGCCAGGCGCCTCACCACTGCAC
Seq A exon
GTGGGTCCCCGCTGGTCTTGGTTTTCAGCCCATCTGTGGGAGGTGGGTGGAGGCAGGCCTCACACCCACTCTGGCCCCTCGTCTGTAG
Seq C2 exon
GCCGGCCCCCAGCAAGCTCTGAGCAGGCCCAGCAGGAACTCTTCAATGAGCTGAAGCCAGCTGTGGATGGGGCAAACTTCATTGTTAACCACATGAGGGACCAGAACAATTACAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902:ENST00000258385:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.203 A=NA C2=0.475
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(28.7=100)
A:
NA
C2:
PF0293211=Neur_chan_memb=FE(16.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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:
CGCAGTGACCTCATGTTCGAG
R:
TGTTCTGGTCCCTCATGTGGT
Band lengths:
175-263
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