HsaEX6066587 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51706422-51746035:+
Coord C1 exon
chr12:51706422-51706715
Coord A exon
chr12:51721546-51721908
Coord C2 exon
chr12:51745903-51746035
Length
363 bp
Sequences
Splice sites
3' ss Seq
TTCCCTGTCTGCCCCTGCAGTCA
3' ss Score
9.9
5' ss Seq
GAGGTGAAA
5' ss Score
2.91
Exon sequences
Seq C1 exon
GCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAG
Seq A exon
TCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAG
Seq C2 exon
GCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'27-28,'27-25,28-28=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.898 A=0.419 C2=0.093
Domain overlap (PFAM):
C1:
PF0310514=SPX=FE(46.9=100),PF119333=DUF3451=PU(31.3=68.4)
A:
PF119333=DUF3451=FE(52.4=100)
C2:
PF119333=DUF3451=PD(17.0=86.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGGCCACTTCAGCAGGAAC
R:
GGAGGCTAATTGGTCCATGGA
Band lengths:
358-721
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains