Special

HsaEX6033782 @ hg19

Exon Skipping

Gene
ENSG00000160716 | CHRNB2
Description
cholinergic receptor, nicotinic, beta 2 (neuronal) [Source:HGNC Symbol;Acc:1962]
Coordinates
chr1:154542268-154544637:+
Coord C1 exon
chr1:154542268-154542312
Coord A exon
chr1:154542734-154542843
Coord C2 exon
chr1:154543665-154544637
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-'2-3,'2-2,3-3=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=0.006
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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


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