HsaEX6024186 @ hg19
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]
Coordinates
chr17:62036625-62041185:-
Coord C1 exon
chr17:62041032-62041185
Coord A exon
chr17:62038553-62038791
Coord C2 exon
chr17:62036625-62036798
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-'10-11,'10-10,11-11=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=0.808 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 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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)