HsaEX6024185 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63961193-63964677:-
Coord C1 exon
chr17:63964468-63964677
Coord A exon
chr17:63963672-63963825
Coord C2 exon
chr17:63961193-63961431
Length
154 bp
Sequences
Splice sites
3' ss Seq
TCACTCTTGCTGGTCTACAGGCC
3' ss Score
7.99
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ACCCTTCGAGCAGCTGGCAAGACCTACATGATCTTCTTCGTGGTCATCATCTTCCTGGGCTCTTTCTACCTCATCAATCTGATCCTGGCCGTGGTGGCCATGGCATATGCCGAGCAGAATGAGGCCACCCTGGCCGAGGATAAGGAGAAAGAGGAGGAGTTTCAGCAGATGCTTGAGAAGTTCAAAAAGCACCAGGAGGAGCTGGAGAAG
Seq A exon
GCCAAGGCCGCCCAAGCTCTGGAAGGTGGGGAGGCAGATGGGGACCCAGCCCATGGCAAAGACTGCAATGGCAGCCTGGACACATCGCAAGGGGAGAAGGGAGCCCCGAGGCAGAGCAGCAGCGGAGACAGCGGCATCTCCGACGCCATGGAAG
Seq C2 exon
AACTGGAAGAGGCCCACCAAAAGTGCCCACCATGGTGGTACAAGTGCGCCCACAAAGTGCTCATATGGAACTGCTGCGCCCCGTGGCTGAAGTTCAAGAACATCATCCACCTGATCGTCATGGACCCGTTCGTGGACCTGGGCATCACCATCTGCATCGTGCTCAACACCCTCTTCATGGCCATGGAACATTACCCCATGACGGAGCACTTTGACAACGTGCTCACTGTGGGCAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'11-13,'11-11,12-13
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.129 A=0.808 C2=0.013
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(10.8=44.3)
A:
NO
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTCATCATCTTCCTGGGCT
R:
CGCAGCAGTTCCATATGAGCA
Band lengths:
248-402
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains