HsaEX6020554 @ hg38
Exon Skipping
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor nicotinic beta 1 subunit [Source:HGNC Symbol;Acc:HGNC:1961]
Coordinates
chr17:7445270-7446942:+
Coord C1 exon
chr17:7445270-7445409
Coord A exon
chr17:7446069-7446113
Coord C2 exon
chr17:7446833-7446942
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTTAAATTTTTCCCTTCTAGAAC
3' ss Score
9.78
5' ss Seq
CTGGTATGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
GCGTCCGCGGCTCGGAGGCGGAGGGTCGACTCCGGGAGAAACTTTTCTCTGGCTATGATAGCTCCGTGCGGCCAGCGCGGGAGGTGGGAGACCGTGTCAGGGTCAGCGTTGGTCTCATCCTGGCGCAACTCATCAGCCTG
Seq A exon
AACGAGAAGGATGAAGAGATGAGCACAAAGGTGTACTTAGACCTG
Seq C2 exon
GAGTGGACTGACTACAGGCTGAGCTGGGACCCTGCGGAGCACGACGGCATCGATTCGCTCCGCATCACGGCGGAATCCGTGTGGCTCCCTGACGTGGTGCTACTGAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175-'1-10,'1-6,7-10
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.023 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PU(17.8=83.0)
A:
PF0293118=Neur_chan_LBD=PU(4.6=88.9)
C2:
PF0293118=Neur_chan_LBD=FE(16.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAGCGTTGGTCTCATCCTG
R:
GTTCAGTAGCACCACGTCAGG
Band lengths:
147-192
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains