HsaEX6066580 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51786542-51789418:+
Coord C1 exon
chr12:51786542-51786826
Coord A exon
chr12:51788695-51788748
Coord C2 exon
chr12:51789281-51789418
Length
54 bp
Sequences
Splice sites
3' ss Seq
TGACTGACTCTGTTTGCCAGGCA
3' ss Score
6.51
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GTGGTGGTGAATGCCTTGGTGGGCGCCATCCCCTCCATCATGAATGTGCTGCTGGTGTGTCTCATCTTCTGGCTGATTTTCAGCATCATGGGAGTTAACTTGTTTGCGGGAAAGTACCACTACTGCTTTAATGAGACTTCTGAAATCCGATTTGAAATTGAAGATGTCAACAATAAAACTGAATGTGAAAAGCTTATGGAGGGGAACAATACAGAGATCAGATGGAAGAACGTGAAGATCAACTTTGACAATGTTGGGGCAGGATACCTGGCCCTTCTTCAAGTA
Seq A exon
GCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAG
Seq C2 exon
CCTGATGAGCAGCCTAAGTATGAGGACAATATCTACATGTACATCTATTTTGTCATCTTCATCATCTTCGGCTCCTTCTTCACCCTGAACCTGTTCATTGGTGTCATCATTGATAACTTCAATCAACAAAAGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'55-51,'55-50,57-51=AN
Average complexity
A_C2
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=FE(40.9=100)
A:
PF0052026=Ion_trans=FE(11.3=100)
C2:
PF0052026=Ion_trans=PD(15.2=76.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGACAATGTTGGGGCAGGA
R:
GTTCAGGGTGAAGAAGGAGCC
Band lengths:
132-186
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains