HsaEX1008783 @ hg38
Exon Skipping
Gene
ENSG00000117971 | CHRNB4
Description
cholinergic receptor nicotinic beta 4 subunit [Source:HGNC Symbol;Acc:HGNC:1964]
Coordinates
chr15:78635439-78649439:-
Coord C1 exon
chr15:78649379-78649439
Coord A exon
chr15:78641079-78641606
Coord C2 exon
chr15:78635439-78635587
Length
528 bp
Sequences
Splice sites
3' ss Seq
AGCAGTGTCCTTTCTTTCAGCAA
3' ss Score
7.07
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
Exon sequences
Seq C1 exon
CTCCAGATTTGGCAGATGGGCGGTAGTTTGCTGGCCCCAGCTCCAGATCATATTGTATTAT
Seq A exon
CAAACCCCATGCGAATGAACCTGAGATGACTCATTTGCCTAAAAGCGTCTTCGAGGTGAGGGAAGGCAAAGCCCAAGGACCTCCCCGCTCAAGCACATGCTCTTTCCCCAACAGTAGAGGGATCCTGCGCTAGCGTCCGCCGCCCTCGAGGGCTCAGTCTCCCCAGCTGTACCAAGGGTGCCCGCACTGTCCTGCCTGCCTTCCTTGGGGGAAGGTTGCGAGGCCCGAAGAGATAGGGAAGCCAGGCGGCAGGTGGGGTCCAGACCACCCAGGGGGCGTCGGGGCGGAGCAGCGGGCCCAGTACATCCCTGAGTGGGCGGGGCTCGGCGGGGCTCTCCGCGGGGTCCTAGTGAGCGCCGCCCCGCCAGCAAACCTCGGGGGCCAGGACCGGCGCTCACTCGACCGCGCGGCTCACGGGTGCCCTGTGACCCCACAGCGGAGCTCGCGGCGGCTGCCACCCGGCCCCGCCGGCCATGAGGCGCGCGCCTTCCCTGGTCCTTTTCTTCCTGGTCGCCCTTTGCGGGCGCG
Seq C2 exon
GGAACTGCCGCGTGGCCAATGCGGAGGAAAAGCTGATGGACGACCTTCTGAACAAAACCCGTTACAATAACCTGATCCGCCCAGCCACCAGCTCCTCACAGCTCATCTCCATCAAGCTGCAGCTCTCCCTGGCCCAGCTTATCAGCGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117971_MULTIEX3-1/3=C1-2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
No structure available
Features
Disorder rate (Iupred):
C1=0.031 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0293118=Neur_chan_LBD=PU(19.9=82.0)
Main Inclusion Isoform:
ENST00000559849fB12398
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCAGATTTGGCAGATGGGC
R:
CTGATAAGCTGGGCCAGGGAG
Band lengths:
206-734
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains