HsaEX6024192 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63945007-63947167:-
Coord C1 exon
chr17:63947045-63947167
Coord A exon
chr17:63945360-63945638
Coord C2 exon
chr17:63945007-63945060
Length
279 bp
Sequences
Splice sites
3' ss Seq
ATGGACCCCCTGGCCCCCAGGTG
3' ss Score
6.98
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GTCTCCATCATCAGCTTGGTGGCCAACTGGCTGGGCTACTCGGAGCTGGGACCCATCAAATCCCTGCGGACACTGCGGGCCCTGCGTCCCCTGAGGGCACTGTCCCGATTCGAGGGCATGAGG
Seq A exon
GTGGTGGTGAACGCCCTCCTAGGCGCCATCCCCTCCATCATGAATGTGCTGCTTGTCTGCCTCATCTTCTGGCTGATCTTCAGCATCATGGGTGTCAACCTGTTTGCCGGCAAGTTCTACTACTGCATCAACACCACCACCTCTGAGAGGTTCGACATCTCCGAGGTCAACAACAAGTCTGAGTGCGAGAGCCTCATGCACACAGGCCAGGTCCGCTGGCTCAATGTCAAGGTCAACTACGACAACGTGGGTCTGGGCTACCTCTCCCTCCTGCAGGTG
Seq C2 exon
GCCACCTTCAAGGGTTGGATGGACATCATGTATGCAGCCGTGGACTCCCGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'23-29,'23-27,26-29=AN
Average complexity
A_S
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(17.5=100)
A:
PF0052026=Ion_trans=FE(40.4=100)
C2:
PF0052026=Ion_trans=FE(7.5=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:
GTCTCCATCATCAGCTTGGTG
R:
GGGAGTCCACGGCTGCATA
Band lengths:
172-451
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains