HsaEX6066578 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51789281-51794641:+
Coord C1 exon
chr12:51789281-51789418
Coord A exon
chr12:51790398-51790502
Coord C2 exon
chr12:51794371-51794641
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTTCTTCTTCCCTCCTTTACTTC
3' ss Score
2.8
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
CCTGATGAGCAGCCTAAGTATGAGGACAATATCTACATGTACATCTATTTTGTCATCTTCATCATCTTCGGCTCCTTCTTCACCCTGAACCTGTTCATTGGTGTCATCATTGATAACTTCAATCAACAAAAGAAAAAG
Seq A exon
TTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACTACAATGCCATGAAAAAGCTGGGCTCAAAGAAGCCACAGAAACCTATTCCCCGCCCCTTG
Seq C2 exon
AACAAAATCCAAGGAATCGTCTTTGATTTTGTCACTCAGCAAGCCTTTGACATTGTTATCATGATGCTCATCTGCCTTAACATGGTGACAATGATGGTGGAGACAGACACTCAAAGCAAGCAGATGGAGAACATCCTCTACTGGATTAACCTGGTGTTTGTTATCTTCTTCACCTGTGAGTGTGTGCTCAAAATGTTTGCGTTGAGGCACTACTACTTCACCATTGGCTGGAACATCTTCGACTTCGTGGTAGTCATCCTCTCCATTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'59-53,'59-52,60-53=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(15.2=76.1)
A:
NO
C2:
PF0052026=Ion_trans=PU(20.5=47.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCCTTCTTCACCCTGAACC
R:
AGCACACACTCACAGGTGAAG
Band lengths:
256-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains