HsaINT0035266 @ hg19
Intron Retention
Gene
ENSG00000196811 | CHRNG
Description
cholinergic receptor, nicotinic, gamma (muscle) [Source:HGNC Symbol;Acc:1967]
Coordinates
chr2:233407133-233407792:+
Coord C1 exon
chr2:233407133-233407230
Coord A exon
chr2:233407231-233407591
Coord C2 exon
chr2:233407592-233407792
Length
361 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACC
5' ss Score
8.66
3' ss Seq
GCCTGCCTGCCTGCCCGCAGAGA
3' ss Score
11.02
Exon sequences
Seq C1 exon
GTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAG
Seq A exon
GTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCATCCAATCTCCCACCCCACTTCTGTCCCTCAAGGGTGCCTCCCCTGCTGGTGCTCCTTAGGGCACATGCTGCCCTTGCAGCTGGGTCACTCGGCTGCAGGGATCTGCCTAGCTCACGCTTCTTGTGCCCACTCCTGCCTGCCTGCCTGCCCGCAG
Seq C2 exon
AGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-CHRNG:NM_005199:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PD(3.2=8.8),PF0293118=Neur_chan_LBD=PU(45.2=97.1)
A:
NA
C2:
PF0293118=Neur_chan_LBD=PD(18.1=57.4),PF0293211=Neur_chan_memb=PU(8.6=30.9)
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:
GTCCCAGACTTACAGCACCAA
R:
TGGCAGGAAGGAAGTGGATGA
Band lengths:
296-657
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)