HsaEX6080596 @ hg38
Exon Skipping
Gene
ENSG00000147432 | CHRNB3
Description
cholinergic receptor nicotinic beta 3 subunit [Source:HGNC Symbol;Acc:HGNC:1963]
Coordinates
chr8:42710390-42732549:+
Coord C1 exon
chr8:42710390-42710434
Coord A exon
chr8:42730594-42730703
Coord C2 exon
chr8:42731667-42732549
Length
110 bp
Sequences
Splice sites
3' ss Seq
AGTGTACTAATTTCATGCAGGAA
3' ss Score
6.07
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GATGAAAAGAATCAGCTGATGACAACCAATGTGTGGCTCAAACAG
Seq A exon
GAATGGACAGACCACAAGTTACGCTGGAATCCTGATGATTATGGTGGGATCCATTCCATTAAAGTTCCATCAGAATCTCTGTGGCTTCCTGACATAGTTCTCTTTGAAAA
Seq C2 exon
TGCTGACGGCCGCTTCGAAGGCTCCCTGATGACCAAGGTCATCGTGAAATCAAACGGAACTGTTGTCTGGACCCCTCCCGCCAGCTACAAAAGCTCCTGCACCATGGACGTCACGTTTTTCCCGTTCGACCGACAGAACTGCTCCATGAAGTTTGGATCCTGGACTTATGATGGCACCATGGTTGACCTCATTTTGATCAATGAAAATGTCGACAGAAAAGACTTCTTCGATAACGGAGAATGGGAAATACTGAACGCAAAGGGGATGAAGGGGAACAGAAGGGACGGCGTGTACTCCTATCCCTTTATCACGTATTCCTTCGTCCTGAGACGCCTGCCTTTATTCTATACCCTCTTTCTCATCATCCCCTGCCTGGGGCTGTCTTTCCTAACAGTTCTTGTGTTCTATTTACCTTCGGATGAAGGAGAAAAACTTTCATTATCCACATCGGTCTTGGTTTCTCTGACAGTTTTCCTTTTAGTGATTGAAGAAATCATCCCATCGTCTTCCAAAGTCATTCCTCTCATTGGAGAGTACCTGCTGTTCATCATGATTTTTGTGACCCTGTCCATCATTGTTACCGTGTTTGTCATTAACGTTCACCACAGATCTTCTTCCACGTACCACCCCATGGCCCCCTGGGTTAAGAGGCTCTTTCTGCAGAAACTTCCAAAATTACTTTGCATGAAAGATCATGTGGATCGCTACTCATCCCCAGAGAAAGAGGAGAGTCAACCAGTAGTGAAAGGCAAAGTCCTCGAAAAAAAGAAACAGAAACAGCTTAGTGATGGAGAAAAAGTTCTAGTTGCTTTTTTGGAAAAAGCTGCTGATTCCATTAGATACATTTCGAGACATGTGAAGAAAGAACATTTTATCAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147432-'2-17,'2-15,9-17=AN
Average complexity
A_C3
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(6.8=100)
A:
PF0293118=Neur_chan_LBD=FE(17.6=100)
C2:
PF0293118=Neur_chan_LBD=PD(55.1=38.3),PF0293211=Neur_chan_memb=PU(84.1=59.0)
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:
CTCAAACTCCTGGCCTCAAGC
R:
TCCTGGTTAACACAGTGAAACCC
Band lengths:
138-248
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains