HsaEX0015328 @ hg38
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232526529-232528371:+
Coord C1 exon
chr2:232526529-232526674
Coord A exon
chr2:232527401-232527445
Coord C2 exon
chr2:232528262-232528371
Length
45 bp
Sequences
Splice sites
3' ss Seq
GCCCTACCGTCTAATTACAGAAA
3' ss Score
6.89
5' ss Seq
CACGTAAGA
5' ss Score
7.45
Exon sequences
Seq C1 exon
GCAGCTGGGGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTGTTTCAAGAGAAGGGCTACAACAAGGAGCTCCGGCCCGTGGCACACAAAGAGGAGAGTGTGGACGTTGCCCTGGCCCTCACACTCTCCAACCTCATCTCCCTG
Seq A exon
AAAGAAGTTGAGGAGACCCTCACTACCAATGTGTGGATAGAGCAC
Seq C2 exon
GGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PU(95.3=83.7),PF0293118=Neur_chan_LBD=PU(2.7=6.1)
A:
PF0293118=Neur_chan_LBD=FE(16.7=100)
C2:
PF0293118=Neur_chan_LBD=PD(0.1=0.0),PF0293118=Neur_chan_LBD=FE(32.7=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATCCGGCACCTGTTTCAAG
R:
ATTCCACTTCAGCCGGTTGTC
Band lengths:
146-191
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development