HsaEX0056552 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63947045-63948765:-
Coord C1 exon
chr17:63948611-63948765
Coord A exon
chr17:63947890-63948063
Coord C2 exon
chr17:63947045-63947167
Length
174 bp
Sequences
Splice sites
3' ss Seq
GGTGGTGCTGGTGCCCCCAGGCC
3' ss Score
6.67
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
CCTGCGTGCAGCGCTGGCCCTGCCTCTACGTGGACATCTCCCAGGGCCGTGGGAAGAAGTGGTGGACTCTGCGCAGGGCCTGCTTCAAGATTGTCGAGCACAACTGGTTCGAGACCTTCATTGTCTTCATGATCCTGCTCAGCAGTGGGGCTCTG
Seq A exon
GCCTTCGAGGACATCTACATTGAGCAGCGGCGAGTCATTCGCACCATCCTAGAATATGCCGACAAGGTCTTCACCTACATCTTCATCATGGAGATGCTGCTCAAATGGGTGGCCTACGGCTTTAAGGTGTACTTCACCAACGCCTGGTGCTGGCTCGACTTCCTCATCGTGGAT
Seq C2 exon
GTCTCCATCATCAGCTTGGTGGCCAACTGGCTGGGCTACTCGGAGCTGGGACCCATCAAATCCCTGCGGACACTGCGGGCCCTGCGTCCCCTGAGGGCACTGTCCCGATTCGAGGGCATGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314_CASSETTE1
Average complexity
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:
PF065128=Na_trans_assoc=PD(19.5=84.6)
A:
PF0052026=Ion_trans=PU(17.1=67.2)
C2:
PF0052026=Ion_trans=FE(17.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCTCTACGTGGACATCTCC
R:
CTCATGCCCTCGAATCGGGA
Band lengths:
257-431
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development