HsaINT0035267 @ hg38
Intron Retention
Gene
ENSG00000196811 | CHRNG
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232542882-232543389:+
Coord C1 exon
chr2:232542882-232543082
Coord A exon
chr2:232543083-232543274
Coord C2 exon
chr2:232543275-232543389
Length
192 bp
Sequences
Splice sites
5' ss Seq
AGGGTACCT
5' ss Score
4.24
3' ss Seq
AGCCTCTCGGTCATGGATAGCTG
3' ss Score
2.21
Exon sequences
Seq C1 exon
AGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGG
Seq A exon
GTACCTGGAGCCTATGGGAAGGAGCCATCCAGTAGCACAGGGGACACCTGGGAGGCCGGGGTGGGCCCTGCCTGGGGAACAGAGTGGCATTACGACCCAGGACAGAGGCAGCGGGCTACTTCTGGGGTAAGGGGTTCCTCTGTGGGTGGGGGAGGTAGGAACCTGCTCTGAGAGCCTCTCGGTCATGGATAG
Seq C2 exon
CTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811:ENST00000389494:7
Average complexity
IR
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=PD(53.4=57.4),PF0293211=Neur_chan_memb=PU(8.6=30.9)
A:
NA
C2:
PF0293211=Neur_chan_memb=FE(15.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCCAAGATGCTCCTGGAC
R:
TGGCCACAAGGAAGAGGAAGA
Band lengths:
243-435
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