HsaINT0035178 @ hg38
Intron Retention
Gene
ENSG00000120903 | CHRNA2
Description
cholinergic receptor nicotinic alpha 2 subunit [Source:HGNC Symbol;Acc:HGNC:1956]
Coordinates
chr8:27469335-27469981:-
Coord C1 exon
chr8:27469761-27469981
Coord A exon
chr8:27469380-27469760
Coord C2 exon
chr8:27469335-27469379
Length
381 bp
Sequences
Splice sites
5' ss Seq
GTGGTGCGC
5' ss Score
4.59
3' ss Seq
TCTGTCTCTCTCTGGGCCAGGAT
3' ss Score
8.87
Exon sequences
Seq C1 exon
GTGGAGAGGAAGCTAAGCGCCCACCTCCCAGGGCTCCTGGAGACCCACTCTCCTCTCCCAGTCCCACGGCATTGCCGCAGGGAGGCTCGCATACCGAGACTGAGGACCGGCTCTTCAAACACCTCTTCCGGGGCTACAACCGCTGGGCGCGCCCGGTGCCCAACACTTCAGACGTGGTGATTGTGCGCTTTGGACTGTCCATCGCTCAGCTCATCGATGTG
Seq A exon
GTGCGCCTGTCTTCCCACCGCTGGCCCGAGGAAGGAGATCCCAGACCACCCACCGCTTTCCCCCTGCTCCTTCCTCTACCCCAGCCCTGCCCTCACGCACAGCAGTGACTTGGGGTGGGGTTGGGGATGGCTCTTCCCAGGGCGGCTACGCTCTCCCCTCTCCCAGCTCTGGAGCTCCCTCCTAGGAGGGCATTGATTGGCAGCAGTGCCTGTGTGACCCTGGAGAATCTGAGTAAGGGTGGCAGGTTTCAGAGTGGGTGGCGGGCGGGCTGGGCTTGGGGTGTCCTATCAGAGGGTCTGAAAACAGCCCATCCCACTCCACCCTGTCTTCTGGGGCTGGGCCCACCCCTTTAATTGCTCCTCTGTCTCTCTCTGGGCCAG
Seq C2 exon
GATGAGAAGAACCAAATGATGACCACCAACGTCTGGCTAAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120903:ENST00000407991:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.449 A=NA C2=0.095
Domain overlap (PFAM):
C1:
PF0315410=Atrophin-1=PD(93.4=77.0),PF0293118=Neur_chan_LBD=PU(40.6=52.7)
A:
NA
C2:
PF0293118=Neur_chan_LBD=FE(14.6=100)
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:
GTGGAGAGGAAGCTAAGCGC
R:
CCAGACGTTGGTGGTCATCAT
Band lengths:
257-638
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development