HsaEX6080598 @ hg38
Exon Skipping
Gene
ENSG00000147432 | CHRNB3
Description
cholinergic receptor nicotinic beta 3 subunit [Source:HGNC Symbol;Acc:HGNC:1963]
Coordinates
chr8:42697376-42710435:+
Coord C1 exon
chr8:42697376-42697598
Coord A exon
chr8:42708717-42708868
Coord C2 exon
chr8:42710390-42710435
Length
152 bp
Sequences
Splice sites
3' ss Seq
CACCCATGATTCTTTTACAGCCA
3' ss Score
7.88
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
ACACTCGGCGAGAGGGGTTGAGATTGTTTTATTCCACTCCAGGTGTTGCTGTCCTCTTGGGTTCCACTTCGGATTTTGAACCCCTGTATTTTCTTTTCAAAACCCCCTTTTCCAGTGGAAATGCTCTGTTGTTAAAAAGGAAGAAACTGTCTTTCTGAAACTGACATCACGATGCTCCCAGATTTTATGCTGGTTCTCATCGTCCTTGGCATCCCTTCCTCAG
Seq A exon
CCACCACAGGTTTCAACTCAATCGCCGAAAATGAAGATGCCCTCCTCAGACATTTGTTCCAAGGTTATCAGAAATGGGTCCGCCCTGTATTACATTCTAATGACACCATAAAAGTATATTTTGGATTGAAAATATCCCAGCTTGTAGATGTG
Seq C2 exon
GATGAAAAGAATCAGCTGATGACAACCAATGTGTGGCTCAAACAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147432-'0-14,'0-13,5-14
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(19.0=76.5)
C2:
PF0293118=Neur_chan_LBD=FE(6.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGAGAGGGGTTGAGATTGTT
R:
CCACACATTGGTTGTCATCAGC
Band lengths:
252-404
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains