HsaEX0015321 @ hg38
Exon Skipping
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor nicotinic beta 1 subunit [Source:HGNC Symbol;Acc:HGNC:1961]
Coordinates
chr17:7447503-7454520:+
Coord C1 exon
chr17:7447503-7447650
Coord A exon
chr17:7448579-7448788
Coord C2 exon
chr17:7454297-7454520
Length
210 bp
Sequences
Splice sites
3' ss Seq
CTCCTTCTGCTCATCCCCAGAGA
3' ss Score
8.9
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
GTCACCTACTTCCCCTTCGACTGGCAGAATTGCACTATGGTGTTCAGCTCCTACAGCTACGACAGCTCGGAGGTCAGCCTGCAGACAGGCCTGGGTCCTGACGGGCAAGGGCATCAGGAAATCCACATTCATGAAGGGACTTTCATTG
Seq A exon
AGAATGGCCAGTGGGAGATTATCCACAAGCCCTCTCGGCTAATCCAGCCTCCAGGCGATCCTAGGGGAGGGAGGGAAGGACAGCGCCAGGAAGTCATCTTCTACCTCATCATCCGCCGCAAGCCTCTCTTCTACCTGGTCAACGTCATTGCCCCATGCATCCTCATCACTCTTCTGGCCATCTTCGTCTTCTACCTGCCACCAGATGCAG
Seq C2 exon
GAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175_MULTIEX1-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.030 A=0.094 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(29.5=100),PF0293211=Neur_chan_memb=PU(0.1=0.0)
A:
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)
C2:
PF0293118=Neur_chan_LBD=PD(2.4=5.3),PF0293211=Neur_chan_memb=FE(57.4=100)
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:
ACCTACTTCCCCTTCGACTGG
R:
CTGAGAAGGTGACGAGGACCA
Band lengths:
292-502
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development