HsaEX6033782 @ hg38
Exon Skipping
Gene
ENSG00000160716 | CHRNB2
Description
cholinergic receptor nicotinic beta 2 subunit [Source:HGNC Symbol;Acc:HGNC:1962]
Coordinates
chr1:154569792-154572161:+
Coord C1 exon
chr1:154569792-154569836
Coord A exon
chr1:154570258-154570367
Coord C2 exon
chr1:154571189-154572161
Length
110 bp
Sequences
Splice sites
3' ss Seq
CTCCCTCTCTCATTTCCCAGGAG
3' ss Score
11.61
5' ss Seq
CAAGTAGGT
5' ss Score
7.33
Exon sequences
Seq C1 exon
CATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAG
Seq A exon
GAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAA
Seq C2 exon
TGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160716-'2-6,'2-4,5-6=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=0.006
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(6.8=100)
A:
PF0293118=Neur_chan_LBD=FE(17.5=100)
C2:
PF0293118=Neur_chan_LBD=PD(54.4=34.5),PF0293211=Neur_chan_memb=PU(86.1=63.1)
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:
GGGAGCAGATCATGACCACCA
R:
TCACTCTTCAGCACCAAGTCG
Band lengths:
242-352
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains