HsaEX6024195 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63942826-63944810:-
Coord C1 exon
chr17:63944673-63944810
Coord A exon
chr17:63943746-63943850
Coord C2 exon
chr17:63942826-63943096
Length
105 bp
Sequences
Splice sites
3' ss Seq
CAAGCCCTATCCCACTATACTTA
3' ss Score
-4.58
5' ss Seq
CAGGTACAG
5' ss Score
8.68
Exon sequences
Seq C1 exon
AAGGAGGAGCAGCCGCAGTACGAGGTGAACCTCTACATGTACCTCTACTTTGTCATCTTCATCATCTTTGGCTCCTTCTTCACCCTCAACCTCTTCATTGGCGTCATCATTGACAACTTCAACCAGCAGAAGAAGAAG
Seq A exon
TTAGGGGGGAAAGACATCTTTATGACGGAGGAACAGAAGAAATACTATAACGCCATGAAGAAGCTTGGCTCCAAGAAGCCTCAGAAGCCAATTCCCCGGCCCCAG
Seq C2 exon
AACAAGATCCAGGGCATGGTGTATGACCTCGTGACGAAGCAGGCCTTCGACATCACCATCATGATCCTCATCTGCCTCAACATGGTCACCATGATGGTGGAGACAGACAACCAGAGCCAGCTCAAGGTGGACATCCTGTACAACATCAACATGATCTTCATCATCATCTTCACAGGGGAGTGCGTGCTCAAGATGCTCGCCCTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGTCGTCATCCTGTCCATTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'28-33,'28-32,29-33=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=0.029 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(15.4=76.1)
A:
NO
C2:
PF0052026=Ion_trans=PU(20.4=47.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTCCTTCTTCACCCTCAA
R:
GCACTCCCCTGTGAAGATGATG
Band lengths:
253-358
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains