HsaEX6024194 @ hg19
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]
Coordinates
chr17:62021106-62022420:-
Coord C1 exon
chr17:62022367-62022420
Coord A exon
chr17:62022033-62022170
Coord C2 exon
chr17:62021106-62021210
Length
138 bp
Sequences
Splice sites
3' ss Seq
CCACCCTGTGGCTCCCACAGAAG
3' ss Score
8.06
5' ss Seq
AAGATGAGT
5' ss Score
2.29
Exon sequences
Seq C1 exon
GCCACCTTCAAGGGTTGGATGGACATCATGTATGCAGCCGTGGACTCCCGGGAG
Seq A exon
AAGGAGGAGCAGCCGCAGTACGAGGTGAACCTCTACATGTACCTCTACTTTGTCATCTTCATCATCTTTGGCTCCTTCTTCACCCTCAACCTCTTCATTGGCGTCATCATTGACAACTTCAACCAGCAGAAGAAGAAG
Seq C2 exon
TTAGGGGGGAAAGACATCTTTATGACGGAGGAACAGAAGAAATACTATAACGCCATGAAGAAGCTTGGCTCCAAGAAGCCTCAGAAGCCAATTCCCCGGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'20-21,'20-20,21-21=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=0.029
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(7.5=100)
A:
PF0052026=Ion_trans=PD(15.4=76.1)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACCTTCAAGGGTTGGATGG
R:
CTGGGGCCGGGGAATTGG
Band lengths:
158-296
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)