Special

HsaEX6019175 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, gamma (muscle) [Source:HGNC Symbol;Acc:1967]
Coordinates
chr2:233409077-233411113:+
Coord C1 exon
chr2:233409077-233409290
Coord A exon
chr2:233409482-233409612
Coord C2 exon
chr2:233410253-233411113
Length
131 bp
Sequences
Splice sites
3' ss Seq
TTACCCTTTCTCTTTATCAGAGA
3' ss Score
9.97
5' ss Seq
AATGTAAGC
5' ss Score
6.12
Exon sequences
Seq C1 exon
GTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAG
Seq A exon
AGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAAT
Seq C2 exon
GGGAATGAGGAGTGGTTCCTGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCATGCTCTCGCTCTTCATCTGTGGCACAGCTGGCATCTTCCTCATGGCCCACTACAACCGGGTGCCGGCCCTGCCATTCCCTGGAGATCCACGCCCCTACCTGCCCTCACCAGACTGAGCCAACCAACCACTGTGGGGCATGTGGGAGTCACACACGTGGGTCACACTGAGTCTTATCAGCCACGTTCTCCTACTGAGGTCCTAAGTGTGCTCTTTGGGAAGTGCCCTTCAGGACTGTGTGAGCCAAACAGCCCTGAGAAAAGCTGGGGAAACAGTCTGAGCTGGAGTCCGAGAGTGGTTGGGGGTGGGCCGTGGCTAGTGTCCTGCTGCAGTCAGCACACACGTGGGATTGGCTAGCTCATCCTGGCACCAGCCACCCCTCCACTCAGTGCACTCCCCTCACTTAGGCAAAGCATTATTCATTCCCATCAGTCTGAAGCCCGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-'10-10,'10-9,11-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.053
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(29.0=100)
A:
PF0293211=Neur_chan_memb=FE(17.6=100)
C2:
PF0293211=Neur_chan_memb=PD(12.7=53.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGTGAACTCCTCTTCCAGC
R:
GTTGGTTGGCTCAGTCTGGTG
Band lengths:
250-381
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains