MmuEX6069784 @ mm9
Exon Skipping
Gene
ENSMUSG00000032511 | Scn5a
Description
sodium channel, voltage-gated, type V, alpha [Source:MGI Symbol;Acc:MGI:98251]
Coordinates
chr9:119401167-119404906:-
Coord C1 exon
chr9:119404625-119404906
Coord A exon
chr9:119402179-119402232
Coord C2 exon
chr9:119401167-119401304
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCATGGTCTCTTCCTCACAGGCG
3' ss Score
9.74
5' ss Seq
GGGGTAGGT
5' ss Score
6.59
Exon sequences
Seq C1 exon
GTGGTGGTCAACGCGCTGGTGGGCGCCATCCCCTCCATCATGAATGTCCTCCTCGTCTGCCTCATCTTCTGGCTCATCTTCAGCATCATGGGCGTGAACCTCTTCGCCGGGAAGTTCGGTAGGTGCATCAACCAGACCGAAGGGGACCTGCCTCTGAACTACACCATTGTGAACAACAAGAGCGAGTGTGAGTCCTTCAACGTGACTGGAGAGTTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCTGGGTACCTGGCCCTGCTGCAGGTG
Seq A exon
GCGACATTTAAAGGCTGGATGGACATCATGTATGCGGCTGTGGACTCCAGAGGG
Seq C2 exon
TATGAAGAGCAGCCGCAGTGGGAGGACAACCTCTACATGTACATCTACTTCGTCGTCTTCATCATCTTCGGCTCCTTCTTCACCCTCAACCTGTTTATTGGTGTCATCATTGATAACTTCAACCAGCAGAAGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000032511-'26-29,'26-28,27-29=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
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAACTTTGACAACGTGGGGG
R:
GTTGAGGGTGAAGAAGGAGCC
Band lengths:
137-191
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]
Other AS DBs: