HsaEX6020555 @ hg19
Exon Skipping
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor, nicotinic, beta 1 (muscle) [Source:HGNC Symbol;Acc:1961]
Coordinates
chr17:7348380-7349432:+
Coord C1 exon
chr17:7348380-7348504
Coord A exon
chr17:7348589-7348728
Coord C2 exon
chr17:7349388-7349432
Length
140 bp
Sequences
Splice sites
3' ss Seq
CTTATTCTCTCCTCCCCCAGGCG
3' ss Score
11.05
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
Exon sequences
Seq C1 exon
GTCACTTCCCCTGTGCTGGCGGTCCCAGCGGCTCTCTGAGCGAAGTCACTGAGCGAGCCGCCAGGCTATGACCCCAGGGGCTCTGCTGATGCTGCTGGGGGCGCTGGGGGCGCCGCTCGCCCCAG
Seq A exon
GCGTCCGCGGCTCGGAGGCGGAGGGTCGACTCCGGGAGAAACTTTTCTCTGGCTATGATAGCTCCGTGCGGCCAGCGCGGGAGGTGGGAGACCGTGTCAGGGTCAGCGTTGGTCTCATCCTGGCGCAACTCATCAGCCTG
Seq C2 exon
AACGAGAAGGATGAAGAGATGAGCACAAAGGTGTACTTAGACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175-'0-1,'0-0,1-1=AN
Average complexity
A_S
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:
NO
A:
PF0293118=Neur_chan_LBD=PU(17.8=83.0)
C2:
PF0293118=Neur_chan_LBD=PU(4.6=88.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCACTTCCCCTGTGCTGG
R:
CAGGTCTAAGTACACCTTTGTGC
Band lengths:
170-310
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)