HsaEX0015306 @ hg19
Exon Skipping
Gene
ENSG00000138435 | CHRNA1
Description
cholinergic receptor, nicotinic, alpha 1 (muscle) [Source:HGNC Symbol;Acc:1955]
Coordinates
chr2:175618947-175624103:-
Coord C1 exon
chr2:175624059-175624103
Coord A exon
chr2:175622294-175622403
Coord C2 exon
chr2:175618947-175619142
Length
110 bp
Sequences
Splice sites
3' ss Seq
CTGTATGTCTTTGTTTCTAGCAA
3' ss Score
8.55
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
Exon sequences
Seq C1 exon
GATGAAGTAAATCAGATCGTGACAACCAATGTGCGTCTGAAACAG
Seq A exon
CAATGGGTGGATTACAACCTAAAATGGAATCCAGATGACTATGGCGGTGTGAAAAAAATTCACATTCCTTCAGAAAAGATCTGGCGCCCAGACCTTGTTCTCTATAACAA
Seq C2 exon
TGCAGATGGTGACTTTGCTATTGTCAAGTTCACCAAAGTGCTCCTGCAGTACACTGGCCACATCACGTGGACACCTCCAGCCATCTTTAAAAGCTACTGTGAGATCATCGTCACCCACTTTCCCTTTGATGAACAGAACTGCAGCATGAAGCTGGGCACCTGGACCTACGACGGCTCTGTCGTGGCCATCAACCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138435_MULTIEX1-2/2=C1-C2
Average complexity
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=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(25.0=100),PF0293118=Neur_chan_LBD=PU(1.4=6.7)
A:
PF0293118=Neur_chan_LBD=FE(22.5=100)
C2:
PF0293118=Neur_chan_LBD=PD(0.1=0.0),PF0293118=Neur_chan_LBD=FE(26.0=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTAAATCAGATCGTGACAACCA
R:
GGTTGATGGCCACGACAGAG
Band lengths:
234-344
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)