HsaEX6024186 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63959265-63963825:-
Coord C1 exon
chr17:63963672-63963825
Coord A exon
chr17:63961193-63961431
Coord C2 exon
chr17:63959265-63959438
Length
239 bp
Sequences
Splice sites
3' ss Seq
TGCTACCACCCCTCTCCCAGAAC
3' ss Score
6.88
5' ss Seq
CTGGTAGGG
5' ss Score
6.35
Exon sequences
Seq C1 exon
GCCAAGGCCGCCCAAGCTCTGGAAGGTGGGGAGGCAGATGGGGACCCAGCCCATGGCAAAGACTGCAATGGCAGCCTGGACACATCGCAAGGGGAGAAGGGAGCCCCGAGGCAGAGCAGCAGCGGAGACAGCGGCATCTCCGACGCCATGGAAG
Seq A exon
AACTGGAAGAGGCCCACCAAAAGTGCCCACCATGGTGGTACAAGTGCGCCCACAAAGTGCTCATATGGAACTGCTGCGCCCCGTGGCTGAAGTTCAAGAACATCATCCACCTGATCGTCATGGACCCGTTCGTGGACCTGGGCATCACCATCTGCATCGTGCTCAACACCCTCTTCATGGCCATGGAACATTACCCCATGACGGAGCACTTTGACAACGTGCTCACTGTGGGCAACCTG
Seq C2 exon
GTCTTCACAGGCATCTTCACAGCAGAGATGGTTCTGAAGCTGATTGCCATGGACCCCTACGAGTATTTCCAGCAGGGTTGGAATATCTTCGACAGCATCATCGTCACCCTCAGCCTGGTAGAGCTAGGCCTGGCCAACGTACAGGGACTGTCTGTGCTACGCTCCTTCCGTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'12-14,'12-13,14-14
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.808 A=0.013 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(1.6=3.8)
C2:
PF0052026=Ion_trans=FE(30.0=100)
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:
AAGCTCTGGAAGGTGGGGAG
R:
CAGACAGTCCCTGTACGTTGG
Band lengths:
295-534
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains