HsaALTD1041856-1/2 @ hg38
Alternative 5'ss
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51721546-51746035:+
Coord C1 exon
chr12:51721546-51721908
Coord A exon
NA
Coord C2 exon
chr12:51745903-51746035
Length
0 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAAA
5' ss Score
2.91
3' ss Seq
TTCTTTTTTTTTTTTTAAAGGCT
3' ss Score
9.23
Exon sequences
Seq C1 exon
TCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAG
Seq A exon
NA
Seq C2 exon
GCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-28-28,29-28-1/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.433 A=NA C2=0.093
Domain overlap (PFAM):
C1:
PF119333=DUF3451=FE(52.4=100)
A:
NA
C2:
PF119333=DUF3451=PD(17.0=86.7)
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACAGCACGGTGGACTGCAA
R:
AGAGATCCAGGGCCTTTCTTCT
Band lengths:
125-158
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains