HsaEX6020555 @ hg38
Exon Skipping
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor nicotinic beta 1 subunit [Source:HGNC Symbol;Acc:HGNC:1961]
Coordinates
chr17:7445061-7446113:+
Coord C1 exon
chr17:7445061-7445185
Coord A exon
chr17:7445270-7445409
Coord C2 exon
chr17:7446069-7446113
Length
140 bp
Sequences
Splice sites
3' ss Seq
CTTATTCTCTCCTCCCCCAGGCG
3' ss Score
11.05
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
Exon sequences
Seq C1 exon
GTCACTTCCCCTGTGCTGGCGGTCCCAGCGGCTCTCTGAGCGAAGTCACTGAGCGAGCCGCCAGGCTATGACCCCAGGGGCTCTGCTGATGCTGCTGGGGGCGCTGGGGGCGCCGCTCGCCCCAG
Seq A exon
GCGTCCGCGGCTCGGAGGCGGAGGGTCGACTCCGGGAGAAACTTTTCTCTGGCTATGATAGCTCCGTGCGGCCAGCGCGGGAGGTGGGAGACCGTGTCAGGGTCAGCGTTGGTCTCATCCTGGCGCAACTCATCAGCCTG
Seq C2 exon
AACGAGAAGGATGAAGAGATGAGCACAAAGGTGTACTTAGACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175-'0-6,'0-0,1-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.023 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0293118=Neur_chan_LBD=PU(17.8=83.0)
C2:
PF0293118=Neur_chan_LBD=PU(4.6=88.9)
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:
GTCACTTCCCCTGTGCTGG
R:
CAGGTCTAAGTACACCTTTGTGC
Band lengths:
170-310
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains