HsaEX0015322 @ hg38
Exon Skipping
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor nicotinic beta 1 subunit [Source:HGNC Symbol;Acc:HGNC:1961]
Coordinates
chr17:7448579-7455456:+
Coord C1 exon
chr17:7448579-7448788
Coord A exon
chr17:7454297-7454520
Coord C2 exon
chr17:7455284-7455456
Length
224 bp
Sequences
Splice sites
3' ss Seq
CTTCCCCTCTGCCCTCCAAGGAG
3' ss Score
7.37
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
AGAATGGCCAGTGGGAGATTATCCACAAGCCCTCTCGGCTAATCCAGCCTCCAGGCGATCCTAGGGGAGGGAGGGAAGGACAGCGCCAGGAAGTCATCTTCTACCTCATCATCCGCCGCAAGCCTCTCTTCTACCTGGTCAACGTCATTGCCCCATGCATCCTCATCACTCTTCTGGCCATCTTCGTCTTCTACCTGCCACCAGATGCAG
Seq A exon
GAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAG
Seq C2 exon
ATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175_MULTIEX1-2/2=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.094 A=0.000 C2=0.223
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PD(23.7=57.7),PF0293211=Neur_chan_memb=PU(91.7=31.0),PF0293211=Neur_chan_memb=PU(0.6=1.4)
A:
PF0293211=Neur_chan_memb=PD(4.2=3.8),PF0293211=Neur_chan_memb=FE(15.1=100)
C2:
PF0293211=Neur_chan_memb=PD(41.1=89.8)
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:
GATCCTAGGGGAGGGAGGGAA
R:
GAAAATCACTTGGCGGCTTCC
Band lengths:
308-532
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development