Special

HsaEX6019176 @ hg38

Exon Skipping

Gene
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232543585-232544902:+
Coord C1 exon
chr2:232543585-232543699
Coord A exon
chr2:232544367-232544580
Coord C2 exon
chr2:232544772-232544902
Length
214 bp
Sequences
Splice sites
3' ss Seq
TGAAGCCACCCCCTCTCTAGGTG
3' ss Score
7.86
5' ss Seq
TAGGTGAGA
5' ss Score
6.95
Exon sequences
Seq C1 exon
GTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAG
Seq A exon
GTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAG
Seq C2 exon
AGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-'9-10,'9-9,10-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(15.5=100)
A:
PF0293211=Neur_chan_memb=FE(29.0=100)
C2:
PF0293211=Neur_chan_memb=FE(17.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTACCTGACCTTCCTCCTGGT
R:
TCAAAGTGACTCTGCTGGTGC
Band lengths:
242-456
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains