HsaEX7009515 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63972136-63972918:-
Coord C1 exon
chr17:63972569-63972918
Coord A exon
chr17:63972352-63972470
Coord C2 exon
chr17:63972136-63972225
Length
119 bp
Sequences
Splice sites
3' ss Seq
CAGCCTCTCTCCCACCTTAGACC
3' ss Score
8.35
5' ss Seq
TGCATATCC
5' ss Score
-13.7
Exon sequences
Seq C1 exon
CCAGCACCCCGGGGCTGCGCACTGCAGCTCCCCAGGCCACCCACCACCCTTCTGGTCTCTGAGCCCAGGATGCGAGGATGGCCAGACCATCTCTGTGCACCCTGGTGCCTCTGGGCCCTGAGTGCTTGCGCCCCTTCACCCGGGAGTCACTGGCAGCCATAGAACAGCGGGCGGTGGAGGAGGAGGCCCGGCTGCAGCGGAATAAGCAGATGGAGATTGAGGAGCCCGAACGGAAGCCACGAAGTGACTTGGAGGCTGGCAAGAACCTACCCATGATCTACGGAGACCCCCCGCCGGAGGTCATCGGCATCCCCCTGGAGGACCTGGATCCCTACTACAGCAATAAGAAG
Seq A exon
ACCTTCATCGTACTCAACAAGGGCAAGGCCATCTTCCGCTTCTCCGCCACACCTGCTCTCTACCTGCTGAGCCCCTTCAGCGTAGTCAGGCGCGGGGCCATCAAGGTGCTCATCCATGC
Seq C2 exon
GCTGTTCAGCATGTTCATCATGATCACCATCTTGACCAACTGCGTATTCATGACCATGAGTGACCCGCCTCCCTGGTCCAAGAATGTGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'0-1,'0-0,1-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.220 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0052026=Ion_trans=PU(0.7=6.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGCGGAATAAGCAGATGG
R:
TCCACATTCTTGGACCAGGGA
Band lengths:
248-367
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains