HsaEX0015330 @ hg19
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor, nicotinic, delta (muscle) [Source:HGNC Symbol;Acc:1965]
Coordinates
chr2:233393572-233396173:+
Coord C1 exon
chr2:233393572-233393681
Coord A exon
chr2:233394649-233394849
Coord C2 exon
chr2:233396062-233396173
Length
201 bp
Sequences
Splice sites
3' ss Seq
TGTCCATGTGCCGCCCTCAGAGA
3' ss Score
8.72
5' ss Seq
ACAGTGAGC
5' ss Score
4.69
Exon sequences
Seq C1 exon
TTCCCTCAAGTATACGGCCAAAGAGATCACCCTGAGCCTGAAACAGGATGCCAAGGAGAACCGCACCTACCCCGTGGAGTGGATCATCATTGATCCTGAAGGCTTCACAG
Seq A exon
AGAACGGGGAGTGGGAGATAGTCCACCGGCCGGCCAGGGTCAACGTGGACCCCAGAGCCCCTCTGGACAGCCCCAGCCGCCAGGACATCACCTTCTACCTCATCATCCGCCGCAAGCCCCTCTTCTACATCATCAACATCCTGGTGCCCTGCGTGCTCATCTCCTTCATGGTCAACCTGGTCTTCTACCTACCGGCTGACA
Seq C2 exon
GTGGTGAGAAGACATCAGTGGCCATCTCGGTGCTCCTGGCTCAGTCTGTCTTCCTGCTGCTCATCTCCAAGCGTCTGCCTGCCACATCCATGGCCATCCCCCTTATCGGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902_MULTIEX1-5/9=4-6
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.366 C2=0.013
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(16.7=100)
A:
PF0293118=Neur_chan_LBD=PD(17.6=57.4),PF0293211=Neur_chan_memb=PU(8.9=30.9)
C2:
PF0293211=Neur_chan_memb=FE(16.7=100),PF0000317=7tm_3=PU(44.4=94.7)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCTCAAGTATACGGCCAAAGA
R:
TTGCCGATAAGGGGGATGGC
Band lengths:
221-422
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)