HsaINT1007700 @ hg38
Intron Retention
Gene
ENSG00000196811 | CHRNG
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232541374-232542520:+
Coord C1 exon
chr2:232541374-232541529
Coord A exon
chr2:232541530-232542422
Coord C2 exon
chr2:232542423-232542520
Length
893 bp
Sequences
Splice sites
5' ss Seq
CCAGTGAGG
5' ss Score
4.09
3' ss Seq
CTTTCCTCGGTGACTCCCAGGTC
3' ss Score
6.64
Exon sequences
Seq C1 exon
CGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCA
Seq A exon
GTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAG
Seq C2 exon
GTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811:ENST00000389494:5
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=0.015
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(24.1=100)
A:
NA
C2:
PF0293118=Neur_chan_LBD=PD(3.2=8.8),PF0293118=Neur_chan_LBD=PU(45.2=97.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGGACGGTGTCTTCGAG
R:
CTGTGAAGGCCTCAGGGTCAA
Band lengths:
254-1147
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains