HsaEX6066588 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51705417-51723140:+
Coord C1 exon
chr12:51705417-51705623
Coord A exon
chr12:51706422-51706715
Coord C2 exon
chr12:51721546-51723140
Length
294 bp
Sequences
Splice sites
3' ss Seq
TGCTGTGGCTTCTTTCCTAGGCT
3' ss Score
8.65
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
ACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAG
Seq A exon
GCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAG
Seq C2 exon
TCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGTGAAAATTGATAAGGCAGCTACCGATGACAGTGTAAGGAAGAACACAAATAGATCGAGGCTAGGCATGGCAGTCTCCCCCGCTCCTTCCCCTCCTCTTTCCCTGCTCTGCCCATCCCACTTGGTCTGTCTGGACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'26-25,'26-23,27-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.116 A=0.898 C2=0.382
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(12.4=44.9),PF0310514=SPX=PU(19.3=58.0)
A:
PF0310514=SPX=FE(46.9=100),PF119333=DUF3451=PU(31.3=68.4)
C2:
PF0310514=SPX=PD(32.4=50.8),PF119333=DUF3451=FE(61.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGTGGCCATGGCTTATGAA
R:
ATGGGGATGAAGAGGGAGTCC
Band lengths:
296-590
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains