Special

HsaINT1007699 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232540381-232540711:+
Coord C1 exon
chr2:232540381-232540425
Coord A exon
chr2:232540426-232540601
Coord C2 exon
chr2:232540602-232540711
Length
176 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
3' ss Seq
AACTGCCCCTCCCCCTGCAGCAG
3' ss Score
9.65
Exon sequences
Seq C1 exon
AACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATG
Seq A exon
GTAAGAGGCCACCCTGCCACCCTCCTTCCATCAGGGGTCCCACCCCACCACCCCAAGGCCTCCTGAGAGTTGCCTGCCCCGTTCCTGCCTCTTCTGTCCTCTTGGGCTGGATGCCCACTCCTAGGGCTGTGGTGCAGCAGAGGGCAGAGGCCTAGCAACTGCCCCTCCCCCTGCAG
Seq C2 exon
CAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811:ENST00000389494:3
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=FE(14.7=100)
A:
NA
C2:
PF0293118=Neur_chan_LBD=FE(37.9=100),PF0293118=Neur_chan_LBD=PU(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACGAGCGAGAGGAAGCCC
R:
TGTTCTCCAGCACGATATCCG
Band lengths:
154-330
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains