HsaEX6016809 @ hg38
Exon Skipping
Gene
ENSG00000138435 | CHRNA1
Description
cholinergic receptor nicotinic alpha 1 subunit [Source:HGNC Symbol;Acc:HGNC:1955]
Coordinates
chr2:174748580-174753740:-
Coord C1 exon
chr2:174753503-174753740
Coord A exon
chr2:174749946-174750169
Coord C2 exon
chr2:174748580-174748819
Length
224 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTGGTCTTTTCAGGGG
3' ss Score
10.99
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GAAAGCGACCAGCCAGACCTGAGCAACTTCATGGAGAGCGGGGAGTGGGTGATCAAGGAGTCCCGGGGCTGGAAGCACTCCGTGACCTATTCCTGCTGCCCCGACACCCCCTACCTGGACATCACCTACCACTTCGTCATGCAGCGCCTGCCCCTCTACTTCATCGTCAACGTCATCATCCCCTGCCTGCTCTTCTCCTTCTTAACTGGCCTGGTATTCTACCTGCCCACAGACTCAG
Seq A exon
GGGAGAAGATGACTCTGAGCATCTCTGTCTTACTGTCTTTGACTGTGTTCCTTCTGGTCATCGTGGAGCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAAATACATGCTGTTCACCATGGTGTTCGTCATTGCCTCCATCATCATCACTGTCATCGTCATCAACACACACCACCGCTCACCCAGCACCCATGTCATGCCCAACTGGGTGCGGAAG
Seq C2 exon
GTTTTTATCGACACTATCCCAAATATCATGTTTTTCTCCACAATGAAAAGACCATCCAGAGAAAAGCAAGACAAAAAGATTTTTACAGAAGACATTGATATCTCTGACATTTCTGGAAAGCCAGGGCCTCCACCCATGGGCTTCCACTCTCCCCTGATCAAACACCCCGAGGTGAAAAGTGCCATCGAGGGCATCAAGTACATCGCAGAGACCATGAAGTCAGACCAGGAGTCTAACAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138435-'12-18,'12-17,14-18=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PD(31.2=62.5),PF0293211=Neur_chan_memb=PU(15.3=27.5)
A:
PF0293211=Neur_chan_memb=FE(73.3=100),PF0293211=Neur_chan_memb=PU(0.1=0.0)
C2:
PF0293211=Neur_chan_memb=PD(31.9=57.5),PF0293211=Neur_chan_memb=PU(56.0=52.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTACCACTTCGTCATGCAGC
R:
TCGATGGCACTTTTCACCTCG
Band lengths:
302-526
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains