Special

HsaEX0015323 @ hg38

Exon Skipping

Gene
ENSG00000160716 | CHRNB2
Description
cholinergic receptor nicotinic beta 2 subunit [Source:HGNC Symbol;Acc:HGNC:1962]
Coordinates
chr1:154569462-154570367:+
Coord C1 exon
chr1:154569462-154569607
Coord A exon
chr1:154569792-154569836
Coord C2 exon
chr1:154570258-154570367
Length
45 bp
Sequences
Splice sites
3' ss Seq
GCCTCTCTTCCTCCCTGCAGCAT
3' ss Score
11.95
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
GGGTGTGGGGTACGGATACAGAGGAGCGGCTGGTGGAGCATCTCCTGGATCCTTCCCGCTACAACAAGCTTATCCGCCCAGCCACCAATGGCTCTGAGCTGGTGACAGTACAGCTTATGGTGTCACTGGCCCAGCTCATCAGTGTG
Seq A exon
CATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAG
Seq C2 exon
GAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160716_CASSETTE1
Average complexity
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(19.9=83.7)
A:
PF0293118=Neur_chan_LBD=FE(6.8=100)
C2:
PF0293118=Neur_chan_LBD=FE(17.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTTCCCGCTACAACAAGCTT
R:
ACTCTTCAGGCTTCCAGGTGA
Band lengths:
136-181
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development