HsaEX0015329 @ hg19
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor, nicotinic, delta (muscle) [Source:HGNC Symbol;Acc:1965]
Coordinates
chr2:233393211-233394849:+
Coord C1 exon
chr2:233393211-233393366
Coord A exon
chr2:233393572-233393681
Coord C2 exon
chr2:233394649-233394849
Length
110 bp
Sequences
Splice sites
3' ss Seq
CTGCCCATTGCCCTCCCCAGTTC
3' ss Score
6.98
5' ss Seq
CAGGTGCTG
5' ss Score
4.87
Exon sequences
Seq C1 exon
CAATGACGGCTCCTTCCAGATCTCCTACTCCTGCAACGTGCTTGTCTACCACTACGGCTTCGTGTACTGGCTGCCACCTGCCATCTTCCGCTCCTCCTGCCCCATCTCTGTCACCTATTTCCCCTTCGACTGGCAGAACTGCTCCCTCAAGTTCAG
Seq A exon
TTCCCTCAAGTATACGGCCAAAGAGATCACCCTGAGCCTGAAACAGGATGCCAAGGAGAACCGCACCTACCCCGTGGAGTGGATCATCATTGATCCTGAAGGCTTCACAG
Seq C2 exon
AGAACGGGGAGTGGGAGATAGTCCACCGGCCGGCCAGGGTCAACGTGGACCCCAGAGCCCCTCTGGACAGCCCCAGCCGCCAGGACATCACCTTCTACCTCATCATCCGCCGCAAGCCCCTCTTCTACATCATCAACATCCTGGTGCCCTGCGTGCTCATCTCCTTCATGGTCAACCTGGTCTTCTACCTACCGGCTGACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902_MULTIEX1-4/9=3-5
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.075 A=0.000 C2=0.366
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(23.4=100)
A:
PF0293118=Neur_chan_LBD=FE(16.7=100)
C2:
PF0293118=Neur_chan_LBD=PD(17.6=57.4),PF0293211=Neur_chan_memb=PU(8.9=30.9)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTTGTCTACCACTACGGC
R:
GATGTAGAAGAGGGGCTTGCG
Band lengths:
250-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)