HsaEX7001801 @ hg38
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232525993-232527445:+
Coord C1 exon
chr2:232525993-232526267
Coord A exon
chr2:232526529-232526674
Coord C2 exon
chr2:232527401-232527445
Length
146 bp
Sequences
Splice sites
3' ss Seq
TTGTCGCTGACCCTCCCCAGGCA
3' ss Score
6.62
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
Exon sequences
Seq C1 exon
TCCGAGCTGCGGGGAGTCCCAGCCTGGGATCTTTGCCTCATGTCCTTGGGCTCCTGCCCTGGCTGGCCCGTCCCCCACCGCCATGAGGTGTCAGATTGTGTTTCCGGCTGCCTCTTCCCGTTGACCCCCTCCTCCCCCAACACCTGTCCCCTCTCCCGCCCACCCTCATTCCACAGCCCTGTAGACAGGAGGGGCAGATGCACGTCCCAGTCAGAGGGATGGGATGGAGGGGCCAGTGCTGACACTGGGGCTGCTGGCTGCCCTGGCGGTGTGTG
Seq A exon
GCAGCTGGGGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTGTTTCAAGAGAAGGGCTACAACAAGGAGCTCCGGCCCGTGGCACACAAAGAGGAGAGTGTGGACGTTGCCCTGGCCCTCACACTCTCCAACCTCATCTCCCTG
Seq C2 exon
AAAGAAGTTGAGGAGACCCTCACTACCAATGTGTGGATAGAGCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902-'0-2,'0-0,1-2=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:
NO
A:
PF0293118=Neur_chan_LBD=PU(95.3=83.7),PF0293118=Neur_chan_LBD=PU(2.7=6.1)
C2:
PF0293118=Neur_chan_LBD=FE(16.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCCATGAGGTGTCAGATTGT
R:
GTGCTCTATCCACACATTGGT
Band lengths:
242-388
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains