Special

HsaEX6033783 @ hg19

Exon Skipping

Gene
ENSG00000160716 | CHRNB2
Description
cholinergic receptor, nicotinic, beta 2 (neuronal) [Source:HGNC Symbol;Acc:1962]
Coordinates
chr1:154540257-154542312:+
Coord C1 exon
chr1:154540257-154540584
Coord A exon
chr1:154541938-154542083
Coord C2 exon
chr1:154542268-154542312
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-'0-1,'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(19.9=83.7)
C2:
PF0293118=Neur_chan_LBD=FE(6.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
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