RnoEX6038202 @ rn6
Exon Skipping
Gene
ENSRNOG00000015049 | Scn5a
Description
sodium voltage-gated channel alpha subunit 5 [Source:RGD Symbol;Acc:3637]
Coordinates
chr8:128177849-128181036:-
Coord C1 exon
chr8:128180755-128181036
Coord A exon
chr8:128178890-128178943
Coord C2 exon
chr8:128177849-128177986
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCACACTCTCTTCCTCACAGGCG
3' ss Score
10.1
5' ss Seq
GGGGTAGGT
5' ss Score
6.59
Exon sequences
Seq C1 exon
GTGGTGGTCAATGCGCTGGTGGGCGCCATCCCCTCCATCATGAACGTCCTCCTCGTCTGCCTCATCTTCTGGCTCATCTTCAGCATCATGGGTGTGAACCTCTTCGCCGGGAAGTTCGGTAGGTGCATCAACCAGACAGAAGGGGACCTGCCTCTGAACTACACCATCGTGAACAACAAGAGTGAGTGCGAGTCCTTCAACGTGACCGGAGAGTTGTACTGGACCAAGGTGAAGGTCAACTTTGACAACGTGGGAGCCGGGTACCTGGCCCTCCTGCAGGTG
Seq A exon
GCGACATTTAAAGGCTGGATGGACATCATGTATGCGGCTGTGGACTCCAGAGGG
Seq C2 exon
TATGAGGAGCAGCCGCAGTGGGAAGACAACCTCTACATGTACATCTACTTTGTCGTCTTCATCATCTTCGGCTCCTTCTTCACCCTCAACCTCTTCATCGGTGTCATCATTGACAACTTCAACCAGCAGAAGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSRNOG00000015049-'33-35,'33-34,34-35=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=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(40.6=100)
A:
PF0052026=Ion_trans=FE(7.4=100)
C2:
PF0052026=Ion_trans=PD(15.3=76.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AACTTTGACAACGTGGGAGCC
R:
ACCGATGAAGAGGTTGAGGGT
Band lengths:
147-201
Functional annotations
There are 1 annotated functions for this event
PMID: 20398673
HsaEX0056554 encodes 18 amino acids in the D3 pore region. Isoforms lacking HsaEX0056554 were tested by exogenous expression in Xenopus oocytes and HEK293 cells. Electrophysiological recordings of these cells suggest that the isoform is non-functional. Skipping this exon is speculated to be relevant for limiting Nav1.5 sodium currents in several tissues, including brain.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]