HsaEX6019171 @ hg38
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232531352-232534135:+
Coord C1 exon
chr2:232531352-232531463
Coord A exon
chr2:232531542-232531656
Coord C2 exon
chr2:232533931-232534135
Length
115 bp
Sequences
Splice sites
3' ss Seq
AGCTGAGTGTTTGCCCACAGGTT
3' ss Score
7.55
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GTGGTGAGAAGACATCAGTGGCCATCTCGGTGCTCCTGGCTCAGTCTGTCTTCCTGCTGCTCATCTCCAAGCGTCTGCCTGCCACATCCATGGCCATCCCCCTTATCGGCAA
Seq A exon
GTTCCTGCTCTTCGGCATGGTGCTGGTCACCATGGTTGTGGTGATCTGTGTCATCGTGCTCAACATCCACTTCCGAACACCCAGCACCCATGTGCTGTCTGAGGGGGTCAAGAAG
Seq C2 exon
CTCTTCCTGGAGACCCTGCCGGAGCTCCTGCACATGTCCCGCCCAGCAGAGGATGGACCCAGCCCTGGGGCCCTGGTGCGGAGGAGCAGCTCCCTGGGATACATCTCCAAGGCCGAGGAGTACTTCCTGCTCAAGTCCCGCAGTGACCTCATGTTCGAGAAGCAGTCAGAGCGGCATGGGCTGGCCAGGCGCCTCACCACTGCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902-'9-10,'9-9,11-10=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=0.203
Domain overlap (PFAM):
C1:
PF0293211=Neur_chan_memb=FE(15.6=100)
A:
PF0293211=Neur_chan_memb=FE(16.0=100)
C2:
PF0293211=Neur_chan_memb=FE(28.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCTGTCTTCCTGCTGCTCA
R:
CGCTCTGACTGCTTCTCGAAC
Band lengths:
243-358
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains