HsaINT0035245 @ hg19
Intron Retention
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor, nicotinic, delta (muscle) [Source:HGNC Symbol;Acc:1965]
Coordinates
chr2:233393211-233393681:+
Coord C1 exon
chr2:233393211-233393366
Coord A exon
chr2:233393367-233393571
Coord C2 exon
chr2:233393572-233393681
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-CHRND:NM_000751:5
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.075 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
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)