HsaEX0015313 @ hg19
Exon Skipping
Gene
ENSG00000169684 | CHRNA5
Description
cholinergic receptor, nicotinic, alpha 5 (neuronal) [Source:HGNC Symbol;Acc:1959]
Coordinates
chr15:78882147-78887611:+
Coord C1 exon
chr15:78882147-78882446
Coord A exon
chr15:78882569-78882978
Coord C2 exon
chr15:78885434-78887611
Length
410 bp
Sequences
Splice sites
3' ss Seq
CTATCTTCCTTCAAATGAAGGTG
3' ss Score
6.8
5' ss Seq
GAGGTCTGT
5' ss Score
5.39
Exon sequences
Seq C1 exon
TGCAGATGGACGTTTTGAAGGGACCAGTACGAAAACAGTCATCAGGTACAATGGCACTGTCACCTGGACTCCACCGGCAAACTACAAAAGTTCCTGTACCATAGATGTCACGTTTTTCCCATTTGACCTTCAGAACTGTTCCATGAAATTTGGTTCTTGGACTTATGATGGATCACAGGTTGATATAATTCTAGAGGACCAAGATGTAGACAAGAGAGATTTTTTTGATAATGGAGAATGGGAGATTGTGAGTGCAACAGGGAGCAAAGGAAACAGAACCGACAGCTGTTGCTGGTATCC
Seq A exon
GTGAAAAGATTTGTCTCTGCACTTCAGTACTTGTGTCTTTGACTGTCTTCCTTCTGGTTATTGAAGAGATCATACCATCATCTTCAAAAGTCATACCTCTAATTGGAGAGTATCTGGTATTTACCATGATTTTTGTGACACTGTCAATTATGGTAACCGTCTTCGCTATCAACATTCATCATCGTTCTTCCTCAACACATAATGCCATGGCGCCTTTGGTCCGCAAGATATTTCTTCACACGCTTCCCAAACTGCTTTGCATGAGAAGTCATGTAGACAGGTACTTCACTCAGAAAGAGGAAACTGAGAGTGGTAGTGGACCAAAATCTTCTAGAAACACATTGGAAGCTGCGCTCGATTCTATTCGCTACATTACAAGACACATCATGAAGGAAAATGATGTCCGTGAG
Seq C2 exon
GTTGTTGAAGATTGGAAATTCATAGCCCAGGTTCTTGATCGGATGTTTCTGTGGACTTTTCTTTTCGTTTCAATTGTTGGATCTCTTGGGCTTTTTGTTCCTGTTATTTATAAATGGGCAAATATATTAATACCAGTTCATATTGGAAATGCAAATAAGTGAAGCCTCCCAAGGGACTGAAGTATACATTTAGTTAACACACATATATCTGATGGCACCTATAAAATTATGAAAATGTAAGTTATGTGTTAAATTTAGTGCAAGCTTTAACAGACTAAGTTGCTAACCTCAATTTATGTTAACAGATGATCCATTTGAACAGTTGGCTGTATGACTGAAGTAATAACTGATGAGATACATTTGATCTTGTAAAAATAGCAAAATATTATCTGAACTGGACTAGTGAAAAATCTAGTATTTGTATCCTGGCAAATAATACTAATTTATAATCCACAGTAAAGTTCATCCTTTGACTGTGCTGGAGAATTCCAGTTGTATTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169684_CASSETTE3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
Show structural model
Features
Disorder rate (Iupred):
C1=0.016 A=0.016 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PD(54.9=40.3),PF0293211=Neur_chan_memb=WD(100=46.0),PF0293211=Neur_chan_memb=PU(58.2=16.5)
A:
PF0293118=Neur_chan_LBD=PD(54.9=40.3),PF0293211=Neur_chan_memb=WD(100=46.0),PF0293211=Neur_chan_memb=PU(58.2=16.5)
C2:
PF0293211=Neur_chan_memb=PD(39.2=57.4)
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGATGGACGTTTTGAAGGGA
R:
CATCCGATCAAGAACCTGGGC
Band lengths:
344-754
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)