HsaEX6080595 @ hg38
Exon Skipping
Gene
ENSG00000147432 | CHRNB3
Description
cholinergic receptor nicotinic beta 3 subunit [Source:HGNC Symbol;Acc:HGNC:1963]
Coordinates
chr8:42730594-42737407:+
Coord C1 exon
chr8:42730594-42730703
Coord A exon
chr8:42731667-42732549
Coord C2 exon
chr8:42736484-42737407
Length
883 bp
Sequences
Splice sites
3' ss Seq
TGAAACTGCTTTGATTGCAGTGC
3' ss Score
5.18
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GAATGGACAGACCACAAGTTACGCTGGAATCCTGATGATTATGGTGGGATCCATTCCATTAAAGTTCCATCAGAATCTCTGTGGCTTCCTGACATAGTTCTCTTTGAAAA
Seq A exon
TGCTGACGGCCGCTTCGAAGGCTCCCTGATGACCAAGGTCATCGTGAAATCAAACGGAACTGTTGTCTGGACCCCTCCCGCCAGCTACAAAAGCTCCTGCACCATGGACGTCACGTTTTTCCCGTTCGACCGACAGAACTGCTCCATGAAGTTTGGATCCTGGACTTATGATGGCACCATGGTTGACCTCATTTTGATCAATGAAAATGTCGACAGAAAAGACTTCTTCGATAACGGAGAATGGGAAATACTGAACGCAAAGGGGATGAAGGGGAACAGAAGGGACGGCGTGTACTCCTATCCCTTTATCACGTATTCCTTCGTCCTGAGACGCCTGCCTTTATTCTATACCCTCTTTCTCATCATCCCCTGCCTGGGGCTGTCTTTCCTAACAGTTCTTGTGTTCTATTTACCTTCGGATGAAGGAGAAAAACTTTCATTATCCACATCGGTCTTGGTTTCTCTGACAGTTTTCCTTTTAGTGATTGAAGAAATCATCCCATCGTCTTCCAAAGTCATTCCTCTCATTGGAGAGTACCTGCTGTTCATCATGATTTTTGTGACCCTGTCCATCATTGTTACCGTGTTTGTCATTAACGTTCACCACAGATCTTCTTCCACGTACCACCCCATGGCCCCCTGGGTTAAGAGGCTCTTTCTGCAGAAACTTCCAAAATTACTTTGCATGAAAGATCATGTGGATCGCTACTCATCCCCAGAGAAAGAGGAGAGTCAACCAGTAGTGAAAGGCAAAGTCCTCGAAAAAAAGAAACAGAAACAGCTTAGTGATGGAGAAAAAGTTCTAGTTGCTTTTTTGGAAAAAGCTGCTGATTCCATTAGATACATTTCGAGACATGTGAAGAAAGAACATTTTATCAGCCAG
Seq C2 exon
GTAGTACAAGACTGGAAATTTGTAGCTCAAGTTCTTGACCGAATCTTCCTGTGGCTCTTTCTGATAGTGTCAGTAACAGGCTCGGTTCTGATTTTTACCCCTGCTTTGAAGATGTGGCTACATAGTTACCATTAGGAATTTAAAAGACATAAGACTAAATTACACCTTAGACCTGACATCTGGCTATCACACAGACAGAATCCAAATGCATGTGCTTGTTCTACGAACCCCGAATGCGTTGTCTTTGTGGAAATGGAACATCTCCTCATGGGAGAAACTCTGGTAAATGTGCTCATTTGTGGTTGCCATGAGAGTGAGCTGCTTTTAAAGAAAGTGGAGCCTCCTCAGACCCCTGCCTTGGCTTTCCCAGACATTCAGGGAGGGATCATAGGTCCAGGCTTGAGCTCACATGTGGCCAGAGTGCACAAAAAGCTGTTGCTACTTGGTGGAGGAACACCTCCTAGAAGCAGCAGGCCTCGGTGGTGGGGGAGGGGGGATTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147432-'9-18,'9-16,10-18
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:
PF0293118=Neur_chan_LBD=FE(17.6=100)
A:
PF0293118=Neur_chan_LBD=PD(55.1=38.3),PF0293211=Neur_chan_memb=PU(84.1=59.0)
C2:
PF0293211=Neur_chan_memb=PD(15.0=68.9)
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:
ACAGACCACAAGTTACGCTGG
R:
CACAAAGACAACGCATTCGGG
Band lengths:
353-1236
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains