Special

HsaINT1007698 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232539992-232540425:+
Coord C1 exon
chr2:232539992-232540131
Coord A exon
chr2:232540132-232540380
Coord C2 exon
chr2:232540381-232540425
Length
249 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGC
5' ss Score
8.69
3' ss Seq
CTACACCCTTGCACCCCCAGAAC
3' ss Score
7.68
Exon sequences
Seq C1 exon
GGGCCCAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACCAACCTCATCTCCCTG
Seq A exon
GTAAGCCGCAGGACGGAGGAGGGGTCAGCGCACCACGCCCTGGGACCTGCTGGGGATAGCATGGGGTGGCTCCAGCCACCAAGAGGTTGGAGGGCCCTAAATCGGACAGGCTGGGGTCTGGAAAACCCCCATGGTTGTGGGGGGAGTACTATCAAGAGGCTGGGGGATGCTTGGCCCCATTGGTGGCCTGTGGGGACTGGCACTGAAGTCGGGGGCTGAGCCCTCCATACTACACCCTTGCACCCCCAG
Seq C2 exon
AACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811:ENST00000389494:2
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=PU(41.1=83.0)
A:
NA
C2:
PF0293118=Neur_chan_LBD=FE(14.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCGGAACCAGGAGGAG
R:
GACATTGGTGGTGAGGGCTTC
Band lengths:
165-414
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains