HsaEX6020554 @ hg19
Exon Skipping
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor, nicotinic, beta 1 (muscle) [Source:HGNC Symbol;Acc:1961]
Coordinates
chr17:7348589-7350261:+
Coord C1 exon
chr17:7348589-7348728
Coord A exon
chr17:7349388-7349432
Coord C2 exon
chr17:7350152-7350261
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTTAAATTTTTCCCTTCTAGAAC
3' ss Score
9.78
5' ss Seq
CTGGTATGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
GCGTCCGCGGCTCGGAGGCGGAGGGTCGACTCCGGGAGAAACTTTTCTCTGGCTATGATAGCTCCGTGCGGCCAGCGCGGGAGGTGGGAGACCGTGTCAGGGTCAGCGTTGGTCTCATCCTGGCGCAACTCATCAGCCTG
Seq A exon
AACGAGAAGGATGAAGAGATGAGCACAAAGGTGTACTTAGACCTG
Seq C2 exon
GAGTGGACTGACTACAGGCTGAGCTGGGACCCTGCGGAGCACGACGGCATCGATTCGCTCCGCATCACGGCGGAATCCGTGTGGCTCCCTGACGTGGTGCTACTGAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175-'1-2,'1-1,2-2=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PU(17.8=83.0)
A:
PF0293118=Neur_chan_LBD=PU(4.6=88.9)
C2:
PF0293118=Neur_chan_LBD=FE(16.4=100)
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:
GTCAGCGTTGGTCTCATCCTG
R:
GTTCAGTAGCACCACGTCAGG
Band lengths:
147-192
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)