HsaEX1008768 @ hg38
Exon Skipping
Gene
ENSG00000101204 | CHRNA4
Description
cholinergic receptor nicotinic alpha 4 subunit [Source:HGNC Symbol;Acc:HGNC:1958]
Coordinates
chr20:63349653-63356084:-
Coord C1 exon
chr20:63355975-63356084
Coord A exon
chr20:63354533-63354754
Coord C2 exon
chr20:63349653-63351027
Length
222 bp
Sequences
Splice sites
3' ss Seq
CTCGCATGGACACATTTCAGGGA
3' ss Score
3.31
5' ss Seq
CAGGTTCAC
5' ss Score
1.23
Exon sequences
Seq C1 exon
GAGTGGCACGACTACAAGCTGCGCTGGGACCCAGCTGACTATGAGAATGTCACCTCCATCCGCATCCCCTCCGAGCTCATCTGGCGGCCGGACATCGTCCTCTACAACAA
Seq A exon
GGAGAAGTGGAAACGCCCAGGATGGGCCGGGCAGAGAAGCCGCTCTGGGTGCCTGTGCACAGCCCTCCAGGAATGCAGCCCCCAGGAACGAAGCCTCTGAGGACCACAGCCCCCACTGTGACCTCAAACCCCCAGGACCACAGCCCCCCGAGTACTGCAGCCCCCCCCACTTCCACAGCCTCACCAGGACCACGGCCCTCCAAAGACTGCAGCCCCCACCAG
Seq C2 exon
TGCTGACGGGGACTTCGCGGTCACCCACCTGACCAAGGCCCACCTGTTCCATGACGGGCGGGTGCAGTGGACTCCCCCGGCCATTTACAAGAGCTCCTGCAGCATCGACGTCACCTTCTTCCCCTTCGACCAGCAGAACTGCACCATGAAATTCGGCTCCTGGACCTACGACAAGGCCAAGATCGACCTGGTGAACATGCACAGCCGCGTGGACCAGCTGGACTTCTGGGAGAGTGGCGAGTGGGTCATCGTGGATGCCGTGGGCACCTACAACACCAGGAAGTACGAGTGCTGTGCCGAGATCTACCCGGACATCACCTATGCCTTCGTCATCCGGCGGCTGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGCCTGCTCATCTCCTGCCTCACCGTGCTGGTCTTCTACCTGCCCTCCGAGTGTGGCGAGAAGATCACGCTGTGCATCTCCGTGCTGCTGTCGCTCACCGTCTTCCTGCTGCTCATCACCGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101204_MULTIEX1-2/2=C1-C2
Average complexity
ME(1-2[94=100])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.196 A=0.000 C2=0.348
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(17.4=100)
A:
PF0293118=Neur_chan_LBD=PD(7.1=20.6)
C2:
PF0293118=Neur_chan_LBD=PD(55.6=25.1),PF0293211=Neur_chan_memb=PU(91.1=73.2)
Main Inclusion Isoform:
ENST00000370263fB12395
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GAGTGGCACGACTACAAGCTG
R:
CAGGTCGATCTTGGCCTTGTC
Band lengths:
300-522
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains