Special

HsaEX1008779 @ hg38

Exon Skipping

Gene
ENSG00000147432 | CHRNB3
Description
cholinergic receptor nicotinic beta 3 subunit [Source:HGNC Symbol;Acc:HGNC:1963]
Coordinates
chr8:42697419-42708868:+
Coord C1 exon
chr8:42697419-42697598
Coord A exon
chr8:42704349-42704481
Coord C2 exon
chr8:42708717-42708868
Length
133 bp
Sequences
Splice sites
3' ss Seq
CATGCTTTTTGTTAATTCAGACG
3' ss Score
5.49
5' ss Seq
TGCGTAAGT
5' ss Score
9.73
Exon sequences
Seq C1 exon
TGTTGCTGTCCTCTTGGGTTCCACTTCGGATTTTGAACCCCTGTATTTTCTTTTCAAAACCCCCTTTTCCAGTGGAAATGCTCTGTTGTTAAAAAGGAAGAAACTGTCTTTCTGAAACTGACATCACGATGCTCCCAGATTTTATGCTGGTTCTCATCGTCCTTGGCATCCCTTCCTCAG
Seq A exon
ACGGAAAGTGCACCTTCTGACAGTGGTAACACAGGTGGAGATGTATGCTGTGCGTGAAAGAGCAGAGCTGCTTGCTGCCCCTGGATCTTGGTGAGGAGCAGGATTCCTGTACCTTCACAGGGAGCACAGCTGC
Seq C2 exon
CCACCACAGGTTTCAACTCAATCGCCGAAAATGAAGATGCCCTCCTCAGACATTTGTTCCAAGGTTATCAGAAATGGGTCCGCCCTGTATTACATTCTAATGACACCATAAAAGTATATTTTGGATTGAAAATATCCCAGCTTGTAGATGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147432_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

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

C1:
NO
A:
NA
C2:
PF0293118=Neur_chan_LBD=PU(19.0=76.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCTCTTGGGTTCCACTTCG
R:
GGCGGACCCATTTCTGATAACC
Band lengths:
257-390
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains