HsaEX6033783 @ hg38
Exon Skipping
Gene
ENSG00000160716 | CHRNB2
Description
cholinergic receptor nicotinic beta 2 subunit [Source:HGNC Symbol;Acc:HGNC:1962]
Coordinates
chr1:154567781-154569836:+
Coord C1 exon
chr1:154567781-154568108
Coord A exon
chr1:154569462-154569607
Coord C2 exon
chr1:154569792-154569836
Length
146 bp
Sequences
Splice sites
3' ss Seq
CCTGCCTTTCCCCTGCCCAGGGG
3' ss Score
9.29
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
CTCCTCCCCCTCACCGTCCCAATTGTATTCCCTGGAAGAGCAGCCGGAAAAGCCTCCGCCTGCTCATACCAGGATAGGCAAGAAGCTGGTTTCTCCTCGCAGCCGGCTCCCTGAGGCCCAGGAACCACCGCGGCGGCCGGCACCACCTGGACCCAGCTCCAGGCGGGCGCGGCTTCAGCACCACGGACAGCGCCCCACCCGCGGCCCTCCCCCCGGCGGCGCGCTCCAGCCGGTGTAGGCGAGGCAGCGAGCTATGCCCGCGGCATGGCCCGGCGCTGCGGCCCCGTGGCGCTGCTCCTTGGCTTCGGCCTCCTCCGGCTGTGCTCAG
Seq A exon
GGGTGTGGGGTACGGATACAGAGGAGCGGCTGGTGGAGCATCTCCTGGATCCTTCCCGCTACAACAAGCTTATCCGCCCAGCCACCAATGGCTCTGAGCTGGTGACAGTACAGCTTATGGTGTCACTGGCCCAGCTCATCAGTGTG
Seq C2 exon
CATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160716-'0-3,'0-0,1-3=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(19.9=83.7)
C2:
PF0293118=Neur_chan_LBD=FE(6.8=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:
TGAGGCCCAGGAACCACC
R:
TGGTGGTCATGATCTGCTCCC
Band lengths:
245-391
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains