HsaEX0015329 @ hg38
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232528501-232530139:+
Coord C1 exon
chr2:232528501-232528656
Coord A exon
chr2:232528862-232528971
Coord C2 exon
chr2:232529939-232530139
Length
110 bp
Sequences
Splice sites
3' ss Seq
CTGCCCATTGCCCTCCCCAGTTC
3' ss Score
6.98
5' ss Seq
CAGGTGCTG
5' ss Score
4.87
Exon sequences
Seq C1 exon
CAATGACGGCTCCTTCCAGATCTCCTACTCCTGCAACGTGCTTGTCTACCACTACGGCTTCGTGTACTGGCTGCCACCTGCCATCTTCCGCTCCTCCTGCCCCATCTCTGTCACCTATTTCCCCTTCGACTGGCAGAACTGCTCCCTCAAGTTCAG
Seq A exon
TTCCCTCAAGTATACGGCCAAAGAGATCACCCTGAGCCTGAAACAGGATGCCAAGGAGAACCGCACCTACCCCGTGGAGTGGATCATCATTGATCCTGAAGGCTTCACAG
Seq C2 exon
AGAACGGGGAGTGGGAGATAGTCCACCGGCCGGCCAGGGTCAACGTGGACCCCAGAGCCCCTCTGGACAGCCCCAGCCGCCAGGACATCACCTTCTACCTCATCATCCGCCGCAAGCCCCTCTTCTACATCATCAACATCCTGGTGCCCTGCGTGCTCATCTCCTTCATGGTCAACCTGGTCTTCTACCTACCGGCTGACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902_MULTIEX1-1/2=C1-2
Average complexity
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=0.243
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(23.4=100)
A:
PF0293118=Neur_chan_LBD=FE(16.7=100)
C2:
PF0293118=Neur_chan_LBD=PD(17.6=57.4),PF0293211=Neur_chan_memb=PU(8.9=30.9)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTTGTCTACCACTACGGC
R:
GATGTAGAAGAGGGGCTTGCG
Band lengths:
250-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development