HsaEX6020550 @ hg38
Exon Skipping
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor nicotinic beta 1 subunit [Source:HGNC Symbol;Acc:HGNC:1961]
Coordinates
chr17:7454297-7455941:+
Coord C1 exon
chr17:7454297-7454520
Coord A exon
chr17:7455284-7455456
Coord C2 exon
chr17:7455794-7455941
Length
173 bp
Sequences
Splice sites
3' ss Seq
ACGCCTCTTCTACTCTGCAGATC
3' ss Score
9.22
5' ss Seq
TAGGTAGGA
5' ss Score
7
Exon sequences
Seq C1 exon
GAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAG
Seq A exon
ATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAG
Seq C2 exon
GTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175-'17-19,'17-16,18-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.223 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PD(2.4=5.3),PF0293211=Neur_chan_memb=FE(57.4=100)
A:
PF0293211=Neur_chan_memb=PD(41.1=89.8)
C2:
PF0293211=Neur_chan_memb=FE(20.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCTCAATCTTTGCCCTGCT
R:
ATAAATCGCCGCAGATCAGGG
Band lengths:
253-426
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains