HsaEX6024196 @ hg19
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]
Coordinates
chr17:62015914-62021210:-
Coord C1 exon
chr17:62021106-62021210
Coord A exon
chr17:62020186-62020456
Coord C2 exon
chr17:62015914-62019353
Length
271 bp
Sequences
Splice sites
3' ss Seq
CACTCCCACCCATGCTGCAGAAC
3' ss Score
5.58
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
Exon sequences
Seq C1 exon
TTAGGGGGGAAAGACATCTTTATGACGGAGGAACAGAAGAAATACTATAACGCCATGAAGAAGCTTGGCTCCAAGAAGCCTCAGAAGCCAATTCCCCGGCCCCAG
Seq A exon
AACAAGATCCAGGGCATGGTGTATGACCTCGTGACGAAGCAGGCCTTCGACATCACCATCATGATCCTCATCTGCCTCAACATGGTCACCATGATGGTGGAGACAGACAACCAGAGCCAGCTCAAGGTGGACATCCTGTACAACATCAACATGATCTTCATCATCATCTTCACAGGGGAGTGCGTGCTCAAGATGCTCGCCCTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGTCGTCATCCTGTCCATTGTGG
Seq C2 exon
GCCTTGCCCTCTCTGACCTGATCCAGAAGTACTTCGTGTCACCCACGCTGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGTCCTGCGGCTGATCCGCGGGGCCAAGGGCATCCGGACGCTGCTGTTCGCCCTCATGATGTCGCTGCCTGCCCTCTTCAACATCGGCCTCCTCCTCTTCCTGGTCATGTTCATCTACTCCATCTTCGGCATGTCCAACTTTGCCTACGTCAAGAAGGAGTCGGGCATCGATGATATGTTCAACTTCGAGACCTTCGGCAACAGCATCATCTGCCTGTTCGAGATCACCACGTCGGCCGGCTGGGACGGGCTCCTCAACCCCATCCTCAACAGCGGGCCCCCAGACTGTGACCCCAACCTGGAGAACCCGGGCACCAGTGTCAAGGGTGACTGCGGCAACCCCTCCATCGGCATCTGCTTCTTCTGCAGCTATATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATCGCCATC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'22-23,'22-22,23-23=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=0.029 A=0.000 C2=0.260
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(20.4=47.3)
C2:
PF0052026=Ion_trans=PD(79.1=40.9),PF0061222=IQ=WD(100=5.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATGAAGAAGCTTGGCTCCA
R:
GATGCCCGACTCCTTCTTGAC
Band lengths:
304-575
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)