HsaEX0015326 @ hg38
Exon Skipping
Gene
ENSG00000117971 | CHRNB4
Description
cholinergic receptor nicotinic beta 4 subunit [Source:HGNC Symbol;Acc:HGNC:1964]
Coordinates
chr15:78624119-78631185:-
Coord C1 exon
chr15:78631076-78631185
Coord A exon
chr15:78628967-78629945
Coord C2 exon
chr15:78624119-78625291
Length
979 bp
Sequences
Splice sites
3' ss Seq
CATGCCCTGACCCTGCCCAGCGC
3' ss Score
5.12
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GAATGGACTGATTACCGCCTGACCTGGAACAGCTCCCGCTACGAGGGTGTGAACATCCTGAGGATCCCTGCAAAGCGCATCTGGTTGCCTGACATCGTGCTTTACAACAA
Seq A exon
CGCCGACGGGACCTATGAGGTGTCTGTCTACACCAACTTGATAGTCCGGTCCAACGGCAGCGTCCTGTGGCTGCCCCCTGCCATCTACAAGAGCGCCTGCAAGATTGAGGTGAAGTACTTTCCCTTCGACCAGCAGAACTGCACCCTCAAGTTCCGCTCCTGGACCTATGACCACACGGAGATAGACATGGTCCTCATGACGCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTCCCAGGGAGAAGGACAGTGAACCCACAAGACCCCAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACCATCAACCTCATCATCCCCTGCGTGCTCACCACCTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTGTGCATCTCAGTGCTGCTGGCACTGACATTCTTCCTGCTGCTCATCTCCAAGATCGTGCCACCCACCTCCCTCGATGTGCCTCTCATCGGCAAGTACCTCATGTTCACCATGGTGCTGGTCACCTTCTCCATCGTCACCAGCGTCTGTGTGCTCAATGTGCACCACCGCTCGCCCAGCACCCACACCATGGCACCCTGGGTCAAGCGCTGCTTCCTGCACAAGCTGCCTACCTTCCTCTTCATGAAGCGCCCTGGCCCCGACAGCAGCCCGGCCAGAGCCTTCCCGCCCAGCAAGTCATGCGTGACCAAGCCCGAGGCCACCGCCACCTCCACCAGCCCCTCCAACTTCTATGGGAACTCCATGTACTTTGTGAACCCCGCCTCTGCAGCTTCCAAGTCTCCAGCCGGCTCTACCCCGGTGGCTATCCCCAGGGATTTCTGGCTGCGGTCCTCTGGGAGGTTCCGACAGGATGTGCAGGAGGCATTAGAAGGTGTCAGCTTCATCGCCCAGCACATGAAGAATGACGATGAAGACCAGAGT
Seq C2 exon
GTCGTTGAGGACTGGAAGTACGTGGCTATGGTGGTGGACCGGCTGTTCCTGTGGGTGTTCATGTTTGTGTGCGTCCTGGGCACTGTGGGGCTCTTCCTACCGCCCCTCTTCCAGACCCATGCAGCTTCTGAGGGGCCCTACGCTGCCCAGCGTGACTGAGGGCCCCCTGGGTTGTGGGGTGAGAGGATGTGAGTGGCCGGGTGGGCACTTTGCTGCTTCTTTCTGGGTTGTGGCTGATGAGGCCCTAAGTAAATATGTGAGCATTGGCCATCAACCCCATCAAACCAGCCACAGCCGTGGAACAGGCAAGGATGGGGGCCTGGGCTGTCCTCTCTGAATGCCTTGGAGGGATCCCAGGAAGCCCCAGTAGGAGGGAGCTTCAGACAGTTCAATTCTGGCCTGTCTTCCTTCCCTGCACCGGGCAATGGGGATAAAGATGACTTCGTAGCAGCACCTACTATGCTTCAGGCATGGTGCCGGCCTGCCTCTCCATCACCATC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117971_MULTIEX1-2/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.039 C2=0.045
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(17.5=100)
A:
PF0293118=Neur_chan_LBD=PD(54.4=34.3),PF0293211=Neur_chan_memb=PU(86.2=63.3)
C2:
PF0293211=Neur_chan_memb=PD(12.9=58.5)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCTACGAGGGTGTGAACATC
R:
TGATGGGGTTGATGGCCAATG
Band lengths:
356-1335
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development