HsaEX0056547 @ hg19
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium channel, voltage-gated, type III, alpha subunit [Source:HGNC Symbol;Acc:10590]
Coordinates
chr2:166019066-166021030:-
Coord C1 exon
chr2:166020902-166021030
Coord A exon
chr2:166020312-166020403
Coord C2 exon
chr2:166019066-166019338
Length
92 bp
Sequences
Splice sites
3' ss Seq
ACTCTGATTTAATTCTGCAGGTA
3' ss Score
9.48
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GTACACATTCACTGGAATCTATACCTTTGAGTCACTTATAAAAATCTTGGCAAGAGGGTTTTGCTTAGAAGATTTTACGTTTCTTCGTGATCCATGGAACTGGCTGGATTTCAGTGTCATTGTGATGGC
Seq A exon
GTATGTAACAGAATTTGTAAGCCTAGGCAATGTTTCAGCCCTTCGAACTTTCAGAGTCTTGAGAGCTCTGAAAACTATTTCTGTAATTCCAG
Seq C2 exon
GTTTAAAGACCATTGTGGGGGCCCTGATCCAGTCGGTAAAGAAGCTTTCTGATGTGATGATCCTGACTGTGTTCTGTCTGAGCGTGTTTGCTCTCATTGGGCTGCAGCTGTTCATGGGCAATCTGAGGAATAAATGTTTGCAGTGGCCCCCAAGCGATTCTGCTTTTGAAACCAACACCACTTCCTACTTTAATGGCACAATGGATTCAAATGGGACATTTGTTAATGTAACAATGAGCACATTTAACTGGAAGGATTACATTGGAGATGACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253_MULTIEX1-1/2=C1-C2
Average complexity
ME(1-2[98=100])
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(16.0=100)
A:
PF0052026=Ion_trans=FE(11.6=100)
C2:
PF0052026=Ion_trans=FE(34.0=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGATCCATGGAACTGGCTGG
R:
AGATTGCCCATGAACAGCTGC
Band lengths:
167-259
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)