HsaEX6024184 @ hg19
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]
Coordinates
chr17:62041032-62043603:-
Coord C1 exon
chr17:62043462-62043603
Coord A exon
chr17:62041828-62042037
Coord C2 exon
chr17:62041032-62041185
Length
210 bp
Sequences
Splice sites
3' ss Seq
CCCTCTCCCTCCACTCCCAGACC
3' ss Score
10.95
5' ss Seq
AAGGTCTGG
5' ss Score
3.93
Exon sequences
Seq C1 exon
GCACTGCCCTGAGGGTTATGAGTGCATCAAGACCGGGCGGAACCCCAACTATGGCTACACCAGCTATGACACCTTCAGCTGGGCCTTCTTGGCTCTCTTCCGCCTCATGACACAGGACTATTGGGAGAACCTCTTCCAGCTG
Seq A exon
ACCCTTCGAGCAGCTGGCAAGACCTACATGATCTTCTTCGTGGTCATCATCTTCCTGGGCTCTTTCTACCTCATCAATCTGATCCTGGCCGTGGTGGCCATGGCATATGCCGAGCAGAATGAGGCCACCCTGGCCGAGGATAAGGAGAAAGAGGAGGAGTTTCAGCAGATGCTTGAGAAGTTCAAAAAGCACCAGGAGGAGCTGGAGAAG
Seq C2 exon
GCCAAGGCCGCCCAAGCTCTGGAAGGTGGGGAGGCAGATGGGGACCCAGCCCATGGCAAAGACTGCAATGGCAGCCTGGACACATCGCAAGGGGAGAAGGGAGCCCCGAGGCAGAGCAGCAGCGGAGACAGCGGCATCTCCGACGCCATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'8-9,'8-8,9-9=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=0.129 C2=0.808
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(16.3=100)
A:
PF0052026=Ion_trans=PD(10.8=44.3)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGCCCTGAGGGTTATGAGT
R:
CTTCCATGGCGTCGGAGAT
Band lengths:
294-504
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)