HsaINT0035163 @ hg19
Intron Retention
Gene
ENSG00000138435 | CHRNA1
Description
cholinergic receptor, nicotinic, alpha 1 (muscle) [Source:HGNC Symbol;Acc:1955]
Coordinates
chr2:175624059-175624361:-
Coord C1 exon
chr2:175624216-175624361
Coord A exon
chr2:175624104-175624215
Coord C2 exon
chr2:175624059-175624103
Length
112 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGA
5' ss Score
5.46
3' ss Seq
ATCCTTATTTTTTTTTCCAGGAT
3' ss Score
10.14
Exon sequences
Seq C1 exon
CTGGCCTCGTCCTGGGCTCCGAACATGAGACCCGTCTGGTGGCAAAGCTATTTAAAGACTACAGCAGCGTGGTGCGGCCAGTGGAAGACCACCGCCAGGTCGTGGAGGTCACCGTGGGCCTGCAGCTGATACAGCTCATCAATGTG
Seq A exon
GTGAGACAAGAGCACTGGGGGCCTGCCCACACACCCACACCTCTCACCCCTGGGTTTCCTCCCCTGGGTCCCCTCTCTCCCCCATAAAAATGATCCTTATTTTTTTTTCCAG
Seq C2 exon
GATGAAGTAAATCAGATCGTGACAACCAATGTGCGTCTGAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138435-CHRNA1:NM_000079:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PU(69.6=79.6)
A:
NA
C2:
PF0293118=Neur_chan_LBD=FE(25.0=100),PF0293118=Neur_chan_LBD=PU(1.4=6.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGTCCTGGGCTCCGAA
R:
CTGTTTCAGACGCACATTGGT
Band lengths:
186-298
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)