HsaEX6019174 @ hg19
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor, nicotinic, delta (muscle) [Source:HGNC Symbol;Acc:1965]
Coordinates
chr2:233392111-233393366:+
Coord C1 exon
chr2:233392111-233392155
Coord A exon
chr2:233392972-233393081
Coord C2 exon
chr2:233393211-233393366
Length
110 bp
Sequences
Splice sites
3' ss Seq
ACATGCCTTTGGGATTCCAGGGC
3' ss Score
5.11
5' ss Seq
CAAGTTGAG
5' ss Score
-10.48
Exon sequences
Seq C1 exon
AAAGAAGTTGAGGAGACCCTCACTACCAATGTGTGGATAGAGCAC
Seq A exon
GGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAA
Seq C2 exon
CAATGACGGCTCCTTCCAGATCTCCTACTCCTGCAACGTGCTTGTCTACCACTACGGCTTCGTGTACTGGCTGCCACCTGCCATCTTCCGCTCCTCCTGCCCCATCTCTGTCACCTATTTCCCCTTCGACTGGCAGAACTGCTCCCTCAAGTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902-'2-3,'2-2,4-3=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.075
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(16.7=100)
A:
PF0293118=Neur_chan_LBD=PD(0.1=0.0),PF0293118=Neur_chan_LBD=FE(32.7=100)
C2:
PF0293118=Neur_chan_LBD=FE(23.4=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAGACCCTCACTACCAATGT
R:
AACTTGAGGGAGCAGTTCTGC
Band lengths:
188-298
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)