Special

HsaEX0015324 @ hg38

Exon Skipping

Gene
ENSG00000117971 | CHRNB4
Description
cholinergic receptor nicotinic beta 4 subunit [Source:HGNC Symbol;Acc:HGNC:1964]
Coordinates
chr15:78631288-78641245:-
Coord C1 exon
chr15:78641079-78641245
Coord A exon
chr15:78635439-78635587
Coord C2 exon
chr15:78631288-78631332
Length
149 bp
Sequences
Splice sites
3' ss Seq
CTGACTGTGTGTTTTCTCAGGGA
3' ss Score
9.6
5' ss Seq
GTGGTAGGT
5' ss Score
7.23
Exon sequences
Seq C1 exon
CCGCCAGCAAACCTCGGGGGCCAGGACCGGCGCTCACTCGACCGCGCGGCTCACGGGTGCCCTGTGACCCCACAGCGGAGCTCGCGGCGGCTGCCACCCGGCCCCGCCGGCCATGAGGCGCGCGCCTTCCCTGGTCCTTTTCTTCCTGGTCGCCCTTTGCGGGCGCG
Seq A exon
GGAACTGCCGCGTGGCCAATGCGGAGGAAAAGCTGATGGACGACCTTCTGAACAAAACCCGTTACAATAACCTGATCCGCCCAGCCACCAGCTCCTCACAGCTCATCTCCATCAAGCTGCAGCTCTCCCTGGCCCAGCTTATCAGCGTG
Seq C2 exon
AATGAGCGAGAGCAGATCATGACCACCAATGTCTGGCTGAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117971_MULTIEX3-2/3=1-C2
Average complexity
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=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0293118=Neur_chan_LBD=PU(19.9=82.0)
C2:
PF0293118=Neur_chan_LBD=FE(13.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
CAAACCTCGGGGGCCAGG
R:
AGACATTGGTGGTCATGATCTGC
Band lengths:
194-343
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