HsaEX0056547 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165162556-165164520:-
Coord C1 exon
chr2:165164392-165164520
Coord A exon
chr2:165163802-165163893
Coord C2 exon
chr2:165162556-165162828
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-'8-15,'8-13,9-15
Average complexity
ME(1-2[98=100])
Mappability confidence:
100%=100=60%
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