Special

HsaEX0015325 @ hg19

Exon Skipping

Gene
ENSG00000117971 | CHRNB4
Description
cholinergic receptor, nicotinic, beta 4 (neuronal) [Source:HGNC Symbol;Acc:1964]
Coordinates
chr15:78921309-78923527:-
Coord C1 exon
chr15:78923418-78923527
Coord A exon
chr15:78923270-78923303
Coord C2 exon
chr15:78921309-78922287
Length
34 bp
Sequences
Splice sites
3' ss Seq
CCCATCTCTGCTTTACCCAGCCT
3' ss Score
4.64
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GAATGGACTGATTACCGCCTGACCTGGAACAGCTCCCGCTACGAGGGTGTGAACATCCTGAGGATCCCTGCAAAGCGCATCTGGTTGCCTGACATCGTGCTTTACAACAA
Seq A exon
CCTTCCAGGCCATCAAGCTAGAAGAGAAACAGAG
Seq C2 exon
CGCCGACGGGACCTATGAGGTGTCTGTCTACACCAACTTGATAGTCCGGTCCAACGGCAGCGTCCTGTGGCTGCCCCCTGCCATCTACAAGAGCGCCTGCAAGATTGAGGTGAAGTACTTTCCCTTCGACCAGCAGAACTGCACCCTCAAGTTCCGCTCCTGGACCTATGACCACACGGAGATAGACATGGTCCTCATGACGCCCACAGCCAGCATGGATGACTTTACTCCCAGTGGTGAGTGGGACATAGTGGCCCTCCCAGGGAGAAGGACAGTGAACCCACAAGACCCCAGCTACGTGGACGTGACTTACGACTTCATCATCAAGCGCAAGCCTCTGTTCTACACCATCAACCTCATCATCCCCTGCGTGCTCACCACCTTGCTGGCCATCCTCGTCTTCTACCTGCCATCCGACTGCGGCGAGAAGATGACACTGTGCATCTCAGTGCTGCTGGCACTGACATTCTTCCTGCTGCTCATCTCCAAGATCGTGCCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117971-'3-4,'3-3,4-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.333 C2=0.039
Domain overlap (PFAM):

C1:
PF0293118=Neur_chan_LBD=FE(17.5=100)
A:
PF0293118=Neur_chan_LBD=FE(10.2=100)
C2:
PF0293118=Neur_chan_LBD=PD(54.4=34.3),PF103294=DUF2417=WD(100=38.2),PF0293211=Neur_chan_memb=PU(86.2=63.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
TGCCTGACATCGTGCTTTACA
R:
TTGCAGGCGCTCTTGTAGATG
Band lengths:
127-161
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