HsaEX6066577 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51790398-51812864:+
Coord C1 exon
chr12:51790398-51790502
Coord A exon
chr12:51794371-51794641
Coord C2 exon
chr12:51806282-51812864
Length
271 bp
Sequences
Splice sites
3' ss Seq
TTCCTTCCCTTCCTCCCCAGAAC
3' ss Score
11.74
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
TTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACTACAATGCCATGAAAAAGCTGGGCTCAAAGAAGCCACAGAAACCTATTCCCCGCCCCTTG
Seq A exon
AACAAAATCCAAGGAATCGTCTTTGATTTTGTCACTCAGCAAGCCTTTGACATTGTTATCATGATGCTCATCTGCCTTAACATGGTGACAATGATGGTGGAGACAGACACTCAAAGCAAGCAGATGGAGAACATCCTCTACTGGATTAACCTGGTGTTTGTTATCTTCTTCACCTGTGAGTGTGTGCTCAAAATGTTTGCGTTGAGGCACTACTACTTCACCATTGGCTGGAACATCTTCGACTTCGTGGTAGTCATCCTCTCCATTGTGG
Seq C2 exon
GAATGTTCCTGGCAGATATAATTGAGAAATACTTTGTTTCCCCAACCCTATTCCGAGTCATCCGATTGGCCCGTATTGGGCGCATCTTGCGTCTGATCAAAGGCGCCAAAGGGATTCGTACCCTGCTCTTTGCCTTAATGATGTCCTTGCCTGCCCTGTTCAACATCGGCCTTCTGCTCTTCCTGGTCATGTTCATCTTCTCCATTTTTGGGATGTCCAATTTTGCATATGTGAAGCACGAGGCTGGTATCGATGACATGTTCAACTTTGAGACATTTGGCAACAGCATGATCTGCCTGTTTCAAATCACAACCTCAGCTGGTTGGGATGGCCTGCTGCTGCCCATCCTAAACCGCCCCCCTGACTGCAGCCTAGATAAGGAACACCCAGGGAGTGGCTTTAAGGGAGATTGTGGGAACCCCTCAGTGGGCATCTTCTTCTTTGTAAGCTACATCATCATCTCTTTCCTAATTGTCGTGAACATGTACATTGCCATCATC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'60-55,'60-53,62-55=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.175
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(20.5=47.3)
C2:
PF0052026=Ion_trans=PD(79.0=43.3),PF0061222=IQ=WD(100=5.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCTCAAAGAAGCCACAGAA
R:
TGTCATCGATACCAGCCTCGT
Band lengths:
298-569
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains