HsaEX0015326 @ hg19
Exon Skipping
Gene
ENSG00000117971 | CHRNB4
Description
cholinergic receptor, nicotinic, beta 4 (neuronal) [Source:HGNC Symbol;Acc:1964]
Coordinates
chr15:78916461-78923527:-
Coord C1 exon
chr15:78923418-78923527
Coord A exon
chr15:78921309-78922287
Coord C2 exon
chr15:78916461-78917633
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_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.039 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),PF103294=DUF2417=WD(100=38.2),PF0293211=Neur_chan_memb=PU(86.2=63.3)
C2:
PF0293211=Neur_chan_memb=PD(12.9=58.5)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)